HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy - Revision history

Sumire.Kitahara: /* Characteristic Chromosomal or Other Global Mutational Patterns */

2026-02-17T23:34:48Z

Characteristic Chromosomal or Other Global Mutational Patterns

← Older revision		Revision as of 18:34, 17 February 2026
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	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|Near-haploid (NH) ~~with hypodiploidy~~ (24–31 chromosomes)		\|Near-haploid (NH) (24–31 chromosomes)
	\|Near haploidy may be the primary event with loss of chromosomes, followed by a secondary event of doubling of chromosomes indicating uniparental isodisomy (UPID), microdeletions if any may occur after the secondary event<ref name=":5">{{Cite journal\|last=Safavi\|first=S.\|last2=Forestier\|first2=E.\|last3=Golovleva\|first3=I.\|last4=Barbany\|first4=G.\|last5=Nord\|first5=K. H.\|last6=Moorman\|first6=A. V.\|last7=Harrison\|first7=C. J.\|last8=Johansson\|first8=B.\|last9=Paulsson\|first9=K.\|date=2013\|title=Loss of chromosomes is the primary event in near-haploid and low-hypodiploid acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/22889820\|journal=Leukemia\|volume=27\|issue=1\|pages=248–250\|doi=10.1038/leu.2012.227\|issn=1476-5551\|pmid=22889820}}</ref>. The chromosomal loss alone may be enough for leukemogenesis and the unconserved random chromosomes may contain specific genes that increase the oncogenic potential of leukemic cells<ref name=":15">{{Cite journal\|last=Harrison\|first=Christine J.\|last2=Moorman\|first2=Anthony V.\|last3=Barber\|first3=Kerry E.\|last4=Broadfield\|first4=Zoë J.\|last5=Cheung\|first5=Kan L.\|last6=Harris\|first6=Rachel L.\|last7=Jalali\|first7=G. Reza\|last8=Robinson\|first8=Hazel M.\|last9=Strefford\|first9=Jonathan C.\|date=2005-05\|title=Interphase molecular cytogenetic screening for chromosomal abnormalities of prognostic significance in childhood acute lymphoblastic leukaemia: a UK Cancer Cytogenetics Group Study\|url=https://pubmed.ncbi.nlm.nih.gov/15877734\|journal=British Journal of Haematology\|volume=129\|issue=4\|pages=520–530\|doi=10.1111/j.1365-2141.2005.05497.x\|issn=0007-1048\|pmid=15877734}}</ref><ref>{{Cite journal\|last=Raimondi\|first=Susana C.\|last2=Zhou\|first2=Yinmei\|last3=Mathew\|first3=Susan\|last4=Shurtleff\|first4=Sheila A.\|last5=Sandlund\|first5=John T.\|last6=Rivera\|first6=Gaston K.\|last7=Behm\|first7=Frederick G.\|last8=Pui\|first8=Ching-Hon\|date=2003-12-15\|title=Reassessment of the prognostic significance of hypodiploidy in pediatric patients with acute lymphoblastic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/14669294\|journal=Cancer\|volume=98\|issue=12\|pages=2715–2722\|doi=10.1002/cncr.11841\|issn=0008-543X\|pmid=14669294}}</ref>.		\|Near haploidy may be the primary event with loss of chromosomes, followed by a secondary event of doubling of chromosomes indicating uniparental isodisomy (UPID), microdeletions if any may occur after the secondary event<ref name=":5">{{Cite journal\|last=Safavi\|first=S.\|last2=Forestier\|first2=E.\|last3=Golovleva\|first3=I.\|last4=Barbany\|first4=G.\|last5=Nord\|first5=K. H.\|last6=Moorman\|first6=A. V.\|last7=Harrison\|first7=C. J.\|last8=Johansson\|first8=B.\|last9=Paulsson\|first9=K.\|date=2013\|title=Loss of chromosomes is the primary event in near-haploid and low-hypodiploid acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/22889820\|journal=Leukemia\|volume=27\|issue=1\|pages=248–250\|doi=10.1038/leu.2012.227\|issn=1476-5551\|pmid=22889820}}</ref>. The chromosomal loss alone may be enough for leukemogenesis and the unconserved random chromosomes may contain specific genes that increase the oncogenic potential of leukemic cells<ref name=":15">{{Cite journal\|last=Harrison\|first=Christine J.\|last2=Moorman\|first2=Anthony V.\|last3=Barber\|first3=Kerry E.\|last4=Broadfield\|first4=Zoë J.\|last5=Cheung\|first5=Kan L.\|last6=Harris\|first6=Rachel L.\|last7=Jalali\|first7=G. Reza\|last8=Robinson\|first8=Hazel M.\|last9=Strefford\|first9=Jonathan C.\|date=2005-05\|title=Interphase molecular cytogenetic screening for chromosomal abnormalities of prognostic significance in childhood acute lymphoblastic leukaemia: a UK Cancer Cytogenetics Group Study\|url=https://pubmed.ncbi.nlm.nih.gov/15877734\|journal=British Journal of Haematology\|volume=129\|issue=4\|pages=520–530\|doi=10.1111/j.1365-2141.2005.05497.x\|issn=0007-1048\|pmid=15877734}}</ref><ref>{{Cite journal\|last=Raimondi\|first=Susana C.\|last2=Zhou\|first2=Yinmei\|last3=Mathew\|first3=Susan\|last4=Shurtleff\|first4=Sheila A.\|last5=Sandlund\|first5=John T.\|last6=Rivera\|first6=Gaston K.\|last7=Behm\|first7=Frederick G.\|last8=Pui\|first8=Ching-Hon\|date=2003-12-15\|title=Reassessment of the prognostic significance of hypodiploidy in pediatric patients with acute lymphoblastic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/14669294\|journal=Cancer\|volume=98\|issue=12\|pages=2715–2722\|doi=10.1002/cncr.11841\|issn=0008-543X\|pmid=14669294}}</ref>.
	\|Rare (0.5%)<ref name=":8" />		\|Rare (0.5%)<ref name=":8" />
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	Near-haploid and low-hypodiploid B-ALL/LBL may undergo doubling, resulting in a pseudohyperdiploid or near-triploid clone containing up to 78 chromosomes, and can present as a diagnostic challenge. If the original hypodiploid clone is not present, the hypodiploidy is regarded as masked, and the case may be mistaken for high-hyperdiploid B-ALL/LBL, resulting in an inappropriate prognostication<ref name=":1" /><ref>{{Cite journal\|last=Carroll\|first=Andrew J.\|last2=Shago\|first2=Mary\|last3=Mikhail\|first3=Fady M.\|last4=Raimondi\|first4=Susana C.\|last5=Hirsch\|first5=Betsy A.\|last6=Loh\|first6=Mignon L.\|last7=Raetz\|first7=Elizabeth A.\|last8=Borowitz\|first8=Michael J.\|last9=Wood\|first9=Brent L.\|date=2019-10\|title=Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group\|url=https://pubmed.ncbi.nlm.nih.gov/31425927\|journal=Cancer Genetics\|volume=238\|pages=62–68\|doi=10.1016/j.cancergen.2019.07.009\|issn=2210-7762\|pmc=6768693\|pmid=31425927}}</ref><ref>{{Cite journal\|last=Creasey\|first=Thomas\|last2=Enshaei\|first2=Amir\|last3=Nebral\|first3=Karin\|last4=Schwab\|first4=Claire\|last5=Watts\|first5=Kathryn\|last6=Cuthbert\|first6=Gavin\|last7=Vora\|first7=Ajay\|last8=Moppett\|first8=John\|last9=Harrison\|first9=Christine J.\|date=2021-09\|title=Single nucleotide polymorphism array-based signature of low hypodiploidy in acute lymphoblastic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/33938069\|journal=Genes, Chromosomes & Cancer\|volume=60\|issue=9\|pages=604–615\|doi=10.1002/gcc.22956\|issn=1098-2264\|pmc=8600946\|pmid=33938069}}</ref>. The two subtypes may be differentiated by SNP array analysis, demonstrating copy-neutral loss of heterozygosity for doubled monosomic chromosomes. The DNA index assessed by flow cytometry may also be helpful if distinct peaks representing the hypodiploid and doubled clones are both detectable<ref>{{Cite journal\|last=Yu\|first=Chih-Hsiang\|last2=Lin\|first2=Tze-Kang\|last3=Jou\|first3=Shiann-Tarng\|last4=Lin\|first4=Chien-Yu\|last5=Lin\|first5=Kai-Hsin\|last6=Lu\|first6=Meng-Yao\|last7=Chen\|first7=Shu-Huey\|last8=Cheng\|first8=Chao-Neng\|last9=Wu\|first9=Kang-Hsi\|date=2020-07-13\|title=MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/32661308\|journal=Scientific Reports\|volume=10\|issue=1\|pages=11501\|doi=10.1038/s41598-020-68311-9\|issn=2045-2322\|pmc=7359332\|pmid=32661308}}</ref>.		Near-haploid and low-hypodiploid B-ALL/LBL may undergo doubling, resulting in a pseudohyperdiploid or near-triploid clone containing up to 78 chromosomes, and can present as a diagnostic challenge. If the original hypodiploid clone is not present, the hypodiploidy is regarded as masked, and the case may be mistaken for high-hyperdiploid B-ALL/LBL, resulting in an inappropriate prognostication<ref name=":1" /><ref>{{Cite journal\|last=Carroll\|first=Andrew J.\|last2=Shago\|first2=Mary\|last3=Mikhail\|first3=Fady M.\|last4=Raimondi\|first4=Susana C.\|last5=Hirsch\|first5=Betsy A.\|last6=Loh\|first6=Mignon L.\|last7=Raetz\|first7=Elizabeth A.\|last8=Borowitz\|first8=Michael J.\|last9=Wood\|first9=Brent L.\|date=2019-10\|title=Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group\|url=https://pubmed.ncbi.nlm.nih.gov/31425927\|journal=Cancer Genetics\|volume=238\|pages=62–68\|doi=10.1016/j.cancergen.2019.07.009\|issn=2210-7762\|pmc=6768693\|pmid=31425927}}</ref><ref>{{Cite journal\|last=Creasey\|first=Thomas\|last2=Enshaei\|first2=Amir\|last3=Nebral\|first3=Karin\|last4=Schwab\|first4=Claire\|last5=Watts\|first5=Kathryn\|last6=Cuthbert\|first6=Gavin\|last7=Vora\|first7=Ajay\|last8=Moppett\|first8=John\|last9=Harrison\|first9=Christine J.\|date=2021-09\|title=Single nucleotide polymorphism array-based signature of low hypodiploidy in acute lymphoblastic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/33938069\|journal=Genes, Chromosomes & Cancer\|volume=60\|issue=9\|pages=604–615\|doi=10.1002/gcc.22956\|issn=1098-2264\|pmc=8600946\|pmid=33938069}}</ref>. The two subtypes may be differentiated by SNP array analysis, demonstrating copy-neutral loss of heterozygosity for doubled monosomic chromosomes. The DNA index assessed by flow cytometry may also be helpful if distinct peaks representing the hypodiploid and doubled clones are both detectable<ref>{{Cite journal\|last=Yu\|first=Chih-Hsiang\|last2=Lin\|first2=Tze-Kang\|last3=Jou\|first3=Shiann-Tarng\|last4=Lin\|first4=Chien-Yu\|last5=Lin\|first5=Kai-Hsin\|last6=Lu\|first6=Meng-Yao\|last7=Chen\|first7=Shu-Huey\|last8=Cheng\|first8=Chao-Neng\|last9=Wu\|first9=Kang-Hsi\|date=2020-07-13\|title=MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/32661308\|journal=Scientific Reports\|volume=10\|issue=1\|pages=11501\|doi=10.1038/s41598-020-68311-9\|issn=2045-2322\|pmc=7359332\|pmid=32661308}}</ref>.
	\|-		\|-
	\|Low-hypodiploid (LH) ~~with hypodiploidy~~ (32–39 chromosomes)		\|Low-hypodiploid (LH) (32–39 chromosomes)
	\|More than 90% of low-hypodiploid patients have been identified with ''TP53'' mutations, which occur in virtually all low-hypodiploid B-ALL cases due to the very recurrent loss of chromosome 17<ref name=":6" /><ref name=":9">{{Cite journal\|last=Safavi\|first=Setareh\|last2=Olsson\|first2=Linda\|last3=Biloglav\|first3=Andrea\|last4=Veerla\|first4=Srinivas\|last5=Blendberg\|first5=Molly\|last6=Tayebwa\|first6=Johnbosco\|last7=Behrendtz\|first7=Mikael\|last8=Castor\|first8=Anders\|last9=Hansson\|first9=Markus\|date=2015\|title=Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/26544893\|journal=Oncotarget\|volume=6\|issue=40\|pages=42793–42802\|doi=10.18632/oncotarget.6000\|issn=1949-2553\|pmc=4767471\|pmid=26544893}}</ref><ref name=":10">{{Cite journal\|last=Stengel\|first=Anna\|last2=Schnittger\|first2=Susanne\|last3=Weissmann\|first3=Sandra\|last4=Kuznia\|first4=Sabrina\|last5=Kern\|first5=Wolfgang\|last6=Kohlmann\|first6=Alexander\|last7=Haferlach\|first7=Torsten\|last8=Haferlach\|first8=Claudia\|date=2014-07-10\|title=TP53 mutations occur in 15.7% of ALL and are associated with MYC-rearrangement, low hypodiploidy, and a poor prognosis\|url=https://pubmed.ncbi.nlm.nih.gov/24829203\|journal=Blood\|volume=124\|issue=2\|pages=251–258\|doi=10.1182/blood-2014-02-558833\|issn=1528-0020\|pmid=24829203}}</ref>. p53 is one of the most prominent tumor suppressors. Its activation as a transcription factor stimulates downstream pathways leading to protective cellular processes, including cell-cycle arrest, apoptosis, and senescence, to prevent the propagation of genetically altered cells<ref>{{Cite journal\|last=Vogelstein\|first=B.\|last2=Lane\|first2=D.\|last3=Levine\|first3=A. J.\|date=2000-11-16\|title=Surfing the p53 network\|url=https://pubmed.ncbi.nlm.nih.gov/11099028\|journal=Nature\|volume=408\|issue=6810\|pages=307–310\|doi=10.1038/35042675\|issn=0028-0836\|pmid=11099028}}</ref>.		\|More than 90% of low-hypodiploid patients have been identified with ''TP53'' mutations, which occur in virtually all low-hypodiploid B-ALL cases due to the very recurrent loss of chromosome 17<ref name=":6" /><ref name=":9">{{Cite journal\|last=Safavi\|first=Setareh\|last2=Olsson\|first2=Linda\|last3=Biloglav\|first3=Andrea\|last4=Veerla\|first4=Srinivas\|last5=Blendberg\|first5=Molly\|last6=Tayebwa\|first6=Johnbosco\|last7=Behrendtz\|first7=Mikael\|last8=Castor\|first8=Anders\|last9=Hansson\|first9=Markus\|date=2015\|title=Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/26544893\|journal=Oncotarget\|volume=6\|issue=40\|pages=42793–42802\|doi=10.18632/oncotarget.6000\|issn=1949-2553\|pmc=4767471\|pmid=26544893}}</ref><ref name=":10">{{Cite journal\|last=Stengel\|first=Anna\|last2=Schnittger\|first2=Susanne\|last3=Weissmann\|first3=Sandra\|last4=Kuznia\|first4=Sabrina\|last5=Kern\|first5=Wolfgang\|last6=Kohlmann\|first6=Alexander\|last7=Haferlach\|first7=Torsten\|last8=Haferlach\|first8=Claudia\|date=2014-07-10\|title=TP53 mutations occur in 15.7% of ALL and are associated with MYC-rearrangement, low hypodiploidy, and a poor prognosis\|url=https://pubmed.ncbi.nlm.nih.gov/24829203\|journal=Blood\|volume=124\|issue=2\|pages=251–258\|doi=10.1182/blood-2014-02-558833\|issn=1528-0020\|pmid=24829203}}</ref>. p53 is one of the most prominent tumor suppressors. Its activation as a transcription factor stimulates downstream pathways leading to protective cellular processes, including cell-cycle arrest, apoptosis, and senescence, to prevent the propagation of genetically altered cells<ref>{{Cite journal\|last=Vogelstein\|first=B.\|last2=Lane\|first2=D.\|last3=Levine\|first3=A. J.\|date=2000-11-16\|title=Surfing the p53 network\|url=https://pubmed.ncbi.nlm.nih.gov/11099028\|journal=Nature\|volume=408\|issue=6810\|pages=307–310\|doi=10.1038/35042675\|issn=0028-0836\|pmid=11099028}}</ref>.
	\|Rare in children, recurrent in adolescents, young adults, and adults		\|Rare in children, recurrent in adolescents, young adults, and adults
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	The most common targets of aneuploidy are chromosomes 2–4, 7, 9, 12–13, 15–17 and 20<ref name=":7" />.		The most common targets of aneuploidy are chromosomes 2–4, 7, 9, 12–13, 15–17 and 20<ref name=":7" />.
	\|-		\|-
	\|High-hypodiploid ~~B-ALL/LBL with hypodiploidy~~ (40–43 chromosomes)		\|High-hypodiploid (40–43 chromosomes)
	\|Genetic alterations involve ''CDKN2A'' and ''TP53''<ref name=":9" />.		\|Genetic alterations involve ''CDKN2A'' and ''TP53''<ref name=":9" />.
	\|Rare, occurring in approximately 4% of diagnosed cases of hypodiploidy in both children and adults, but with a predominance of the younger group<ref name=":11" /><ref name=":12">{{Cite journal\|last=Moorman\|first=Anthony V.\|date=2016\|title=New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/27033238\|journal=Haematologica\|volume=101\|issue=4\|pages=407–416\|doi=10.3324/haematol.2015.141101\|issn=1592-8721\|pmc=5004393\|pmid=27033238}}</ref>.		\|Rare, occurring in approximately 4% of diagnosed cases of hypodiploidy in both children and adults, but with a predominance of the younger group<ref name=":11" /><ref name=":12">{{Cite journal\|last=Moorman\|first=Anthony V.\|date=2016\|title=New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/27033238\|journal=Haematologica\|volume=101\|issue=4\|pages=407–416\|doi=10.3324/haematol.2015.141101\|issn=1592-8721\|pmc=5004393\|pmid=27033238}}</ref>.

Sumire.Kitahara: /* Gene Mutations (SNV/INDEL) */

2026-02-17T23:33:21Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 18:33, 17 February 2026
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	\|-		\|-
	\|''TP53''<br />		\|''TP53''<br />
	\|~~The majority are missense~~ mutations ~~located in exon~~ 7, ~~exon~~ 8, ~~exon~~ 6, and ~~exon~~ 5. ~~Less~~ frequent ~~frameshift mutations in exon~~ 4 and 7 ~~have been described~~<ref name=":6" />. ~~In general are predicted to be~~ loss of function (LOF) mutations.		\|Missense mutations most common (exons 7, 8, 6, and 5).
			Frameshift mutations less frequent (exons 4 and 7)<ref name=":6" />.
			Typically loss of function (LOF) mutations.
	\|Tumor supressor gene		\|Tumor supressor gene
	\|Common (>90%)		\|Common (>90%)
	\|~~No established significance~~		\|D: may indicate need for genetic counseling for Li-Fraumeni syndrome in pediatric population
			P: poor outcome
	\|No (NCCN)		\|No (NCCN)
	\|These alterations correlate with low-hypodiploid ALL (32–39 chromosomes) and poorer clinical outcomes<ref name=":2" />. Approximately 50% of children with low-hypodiploid B-ALL/LBL carry germline ''TP53'' variants associated with Li–Fraumeni syndrome. Accordingly, genetic counseling is recommended for children with low-hypodiploid B-ALL carrying ''TP53'' mutations, and their relatives<ref name=":17" />. In contrast to childhood cases, ''TP53'' mutations in low-hypodiploid adult B-ALL are somatic, are not found in healthy hematopoietic cells, and not detectable in remission samples<ref name=":2" /><ref name=":6" />.		\|These alterations correlate with low-hypodiploid ALL (32–39 chromosomes) and poorer clinical outcomes<ref name=":2" />. Approximately 50% of children with low-hypodiploid B-ALL/LBL carry germline ''TP53'' variants associated with Li–Fraumeni syndrome. Accordingly, genetic counseling is recommended for children with low-hypodiploid B-ALL carrying ''TP53'' mutations, and their relatives<ref name=":17" />. In contrast to childhood cases, ''TP53'' mutations in low-hypodiploid adult B-ALL are somatic, are not found in healthy hematopoietic cells, and not detectable in remission samples<ref name=":2" /><ref name=":6" />.

Sumire.Kitahara: /* Familial Forms */

2026-02-17T23:20:37Z

Familial Forms

Show changes

Sumire.Kitahara: /* Gene Mutations (SNV/INDEL) */

2026-02-15T05:07:27Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 00:07, 15 February 2026
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	\|No (NCCN)		\|No (NCCN)
	\|Chromosome abnormalities include whole chromosome loss, specifically one sex chromosome and often chromosomes 7, 9, and/or 13. Also detected are structural anomalies especially dicentric chromosomes involving chromosomes 7, 9 or 12.		\|Chromosome abnormalities include whole chromosome loss, specifically one sex chromosome and often chromosomes 7, 9, and/or 13. Also detected are structural anomalies especially dicentric chromosomes involving chromosomes 7, 9 or 12.
	\|}~~<blockquote class="blockedit">~~		\|}
	~~<center>~~
	~~----~~
	~~</blockquote>~~
	==Gene Mutations (SNV/INDEL)==		==Gene Mutations (SNV/INDEL)==
	Holmfeldt et al sequenced 124 cases of low-hypodiploid B-ALL and showed that more than two-thirds (70.6%) of near-haploid ALL cases harbored genetic alterations known or predicted to result in activation of RTK or Ras signaling, including deletion, amplification and/or sequence mutation of ''NF1'', ''NRAS'', ''KRAS'', ''MAPK1'', ''FLT3'' or ''PTPN11<ref name=":2" />''.		Holmfeldt et al sequenced 124 cases of low-hypodiploid B-ALL and showed that more than two-thirds (70.6%) of near-haploid ALL cases harbored genetic alterations known or predicted to result in activation of RTK or Ras signaling, including deletion, amplification and/or sequence mutation of ''NF1'', ''NRAS'', ''KRAS'', ''MAPK1'', ''FLT3'' or ''PTPN11<ref name=":2" />''.
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	\|Associated with near-haploid B-ALL. It was identified as a putative RAS signaling inhibitor and have a negative regulatory function in proximal B-cell receptor signaling<ref name=":2" />.		\|Associated with near-haploid B-ALL. It was identified as a putative RAS signaling inhibitor and have a negative regulatory function in proximal B-cell receptor signaling<ref name=":2" />.
	\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.		\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

	~~<blockquote class="blockedit"></blockquote>~~


	==Epigenomic Alterations==		==Epigenomic Alterations==

	In near haploid 19% of the cases had focal deletions of histone gene cluster at 6p22, however, non-hypodiploid ALL had 8%, lower frequency of these deletions<ref name=":2" />. Of the 25 next generation sequenced haploid cases 16 (64%) cases had twenty six histone modifier gene mutations and of the 15 low hypodiploid ALL cases 9 (60%) cases had 9 mutations; the most common mutation (32%) of the near haploid cases was transcriptional co-activator and histone acetyltransferase ''CREBBP''<ref name=":2" />.		In near haploid 19% of the cases had focal deletions of histone gene cluster at 6p22, however, non-hypodiploid ALL had 8%, lower frequency of these deletions<ref name=":2" />. Of the 25 next generation sequenced haploid cases 16 (64%) cases had twenty-six histone modifier gene mutations and of the 15 low hypodiploid ALL cases 9 (60%) cases had 9 mutations; the most common mutation (32%) of the near haploid cases was transcriptional co-activator and histone acetyltransferase ''CREBBP''<ref name=":2" />.

	==Genes and Main Pathways Involved==		==Genes and Main Pathways Involved==
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	\|Not fully elucidated in this entity		\|Not fully elucidated in this entity
	\|}		\|}
			==Genetic Diagnostic Testing Methods==

	<~~blockquote class~~="~~blockedit~~">~~<center>~~		Karyotype, flow cytometry DNA index, FISH, and SNP arrays are all useful in establishing the diagnosis<ref name=":13" />.
	~~----~~
	~~</blockquote>~~		When using FISH or karyotype, approximately 16% to 30% of the ALL cases yield no or inadequate cytogenetic results due to inadequate specimens and absent or few mitotic cells.
	~~==Genetic Diagnostic Testing Methods==~~

	Karyotype, flow cytometry DNA index, FISH, and SNP arrays are all useful in establishing the diagnosis<ref name=":13" />. When using FISH or karyotype, approximately 16% to 30% of the ALL cases yield no or inadequate cytogenetic results due to inadequate specimens and absent or few mitotic cells. Among those with a cytogenetic result, 15% to 25% have a normal karyotype<ref>{{Cite journal\|last=Moorman\|first=Anthony V.\|last2=Ensor\|first2=Hannah M.\|last3=Richards\|first3=Sue M.\|last4=Chilton\|first4=Lucy\|last5=Schwab\|first5=Claire\|last6=Kinsey\|first6=Sally E.\|last7=Vora\|first7=Ajay\|last8=Mitchell\|first8=Chris D.\|last9=Harrison\|first9=Christine J.\|date=2010-05\|title=Prognostic effect of chromosomal abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: results from the UK Medical Research Council ALL97/99 randomised trial\|url=https://pubmed.ncbi.nlm.nih.gov/20409752\|journal=The Lancet. Oncology\|volume=11\|issue=5\|pages=429–438\|doi=10.1016/S1470-2045(10)70066-8\|issn=1474-5488\|pmid=20409752}}</ref>. High-resolution SNP array can detect IKZF1 deletions and other cryptic copy number aberrations as well as CN-LOH that are not detectable by chromosome analysis<ref name=":19">{{Cite journal\|last=Wang\|first=Yunhong\|last2=Miller\|first2=Sue\|last3=Roulston\|first3=Diane\|last4=Bixby\|first4=Dale\|last5=Shao\|first5=Lina\|date=2016\|title=Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma\|url=https://www.ncbi.nlm.nih.gov/pubmed/27161658\|journal=The Journal of molecular diagnostics: JMD\|volume=18\|issue=4\|pages=595–603\|doi=10.1016/j.jmoldx.2016.03.004\|issn=1943-7811\|pmid=27161658}}</ref>.		Among those with a cytogenetic result, 15% to 25% have a normal karyotype<ref>{{Cite journal\|last=Moorman\|first=Anthony V.\|last2=Ensor\|first2=Hannah M.\|last3=Richards\|first3=Sue M.\|last4=Chilton\|first4=Lucy\|last5=Schwab\|first5=Claire\|last6=Kinsey\|first6=Sally E.\|last7=Vora\|first7=Ajay\|last8=Mitchell\|first8=Chris D.\|last9=Harrison\|first9=Christine J.\|date=2010-05\|title=Prognostic effect of chromosomal abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: results from the UK Medical Research Council ALL97/99 randomised trial\|url=https://pubmed.ncbi.nlm.nih.gov/20409752\|journal=The Lancet. Oncology\|volume=11\|issue=5\|pages=429–438\|doi=10.1016/S1470-2045(10)70066-8\|issn=1474-5488\|pmid=20409752}}</ref>. High-resolution SNP array can detect ''IKZF1'' deletions and other cryptic copy number aberrations as well as CN-LOH that are not detectable by chromosome analysis<ref name=":19">{{Cite journal\|last=Wang\|first=Yunhong\|last2=Miller\|first2=Sue\|last3=Roulston\|first3=Diane\|last4=Bixby\|first4=Dale\|last5=Shao\|first5=Lina\|date=2016\|title=Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma\|url=https://www.ncbi.nlm.nih.gov/pubmed/27161658\|journal=The Journal of molecular diagnostics: JMD\|volume=18\|issue=4\|pages=595–603\|doi=10.1016/j.jmoldx.2016.03.004\|issn=1943-7811\|pmid=27161658}}</ref>.

	==Familial Forms==		==Familial Forms==

Sumire.Kitahara: /* Gene Rearrangements */

2026-02-15T05:04:20Z

Gene Rearrangements

← Older revision		Revision as of 00:04, 15 February 2026
Line 58:		Line 58:
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==

	Hypodiploid B-ALL is characterized by widespread genomic losses consistent with the hypodiploid karyotype<ref name=":13" />~~. Please refer to section "Characteristic Chromosomal or Other Global Mutational Patterns" below~~.		Hypodiploid B-ALL is characterized by widespread genomic losses consistent with the hypodiploid karyotype<ref name=":13" />.
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 66:		Line 66:
	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|~~<span class~~="~~blue-text">EXAMPLE:</span>~~		\| colspan="7" \|Please refer to section "Characteristic Chromosomal or Other Global Mutational Patterns" below.
	7
	~~\|<span class=~~"~~blue-text">EXAMPLE:</span> Loss~~
	\|~~<span class=~~"~~blue-text~~"~~>EXAMPLE:</span>~~
	~~chr7~~
	~~\|<span class="blue-text">EXAMPLE:</span>~~
	~~Unknown~~
	~~\|<span class="blue-text">EXAMPLE:</span> D, P~~
	~~\|<span class="blue-text">EXAMPLE:</span> No~~
	~~\|<span class="blue-text">EXAMPLE:</span>~~
	Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
	\|}		\|}

	~~<blockquote class="blockedit">~~
	~~<center>~~
	~~----~~
	~~</blockquote>~~
	==Characteristic Chromosomal or Other Global Mutational Patterns==		==Characteristic Chromosomal or Other Global Mutational Patterns==
	This entity is defined by the presence of neoplastic lymphoblasts containing less than 46 chromosomes, and can be subdivided into near-haploid B-ALL/LBL with hypodiploidy (24–31 chromosomes); low-hypodiploid B-ALL/LBL with hypodiploidy (32–39 chromosomes); and high-hypodiploid B-ALL/LBL with hypodiploidy (40–43 chromosomes)<ref name=":13" /><ref name=":18">{{Cite journal\|last=Harrison\|first=Christine J.\|last2=Moorman\|first2=Anthony V.\|last3=Broadfield\|first3=Zoë J.\|last4=Cheung\|first4=Kan L.\|last5=Harris\|first5=Rachel L.\|last6=Reza Jalali\|first6=G.\|last7=Robinson\|first7=Hazel M.\|last8=Barber\|first8=Kerry E.\|last9=Richards\|first9=Sue M.\|date=2004\|title=Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/15147369\|journal=British Journal of Haematology\|volume=125\|issue=5\|pages=552–559\|doi=10.1111/j.1365-2141.2004.04948.x\|issn=0007-1048\|pmid=15147369}}</ref>. Of note, near-diploid cases (44–45 chromosomes) are not included in the hypodiploid category in clinical therapy–directed classification schemes because they do not share the poor prognosis observed<ref name=":14" />. In a study, for patients with 44 chromosomes, monosomy 7, the presence of a dicentric chromosome, or both predicted a worse event-free survival (EFS) but similar overall survival (OS)<ref name=":3">{{Cite journal\|last=Nachman\|first=James B.\|last2=Heerema\|first2=Nyla A.\|last3=Sather\|first3=Harland\|last4=Camitta\|first4=Bruce\|last5=Forestier\|first5=Erik\|last6=Harrison\|first6=Christine J.\|last7=Dastugue\|first7=Nicole\|last8=Schrappe\|first8=Martin\|last9=Pui\|first9=Ching-Hon\|date=2007\|title=Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/17473063\|journal=Blood\|volume=110\|issue=4\|pages=1112–1115\|doi=10.1182/blood-2006-07-038299\|issn=0006-4971\|pmc=1939895\|pmid=17473063}}</ref>.		This entity is defined by the presence of neoplastic lymphoblasts containing less than 46 chromosomes, and can be subdivided into near-haploid B-ALL/LBL with hypodiploidy (24–31 chromosomes); low-hypodiploid B-ALL/LBL with hypodiploidy (32–39 chromosomes); and high-hypodiploid B-ALL/LBL with hypodiploidy (40–43 chromosomes)<ref name=":13" /><ref name=":18">{{Cite journal\|last=Harrison\|first=Christine J.\|last2=Moorman\|first2=Anthony V.\|last3=Broadfield\|first3=Zoë J.\|last4=Cheung\|first4=Kan L.\|last5=Harris\|first5=Rachel L.\|last6=Reza Jalali\|first6=G.\|last7=Robinson\|first7=Hazel M.\|last8=Barber\|first8=Kerry E.\|last9=Richards\|first9=Sue M.\|date=2004\|title=Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/15147369\|journal=British Journal of Haematology\|volume=125\|issue=5\|pages=552–559\|doi=10.1111/j.1365-2141.2004.04948.x\|issn=0007-1048\|pmid=15147369}}</ref>. Of note, near-diploid cases (44–45 chromosomes) are not included in the hypodiploid category in clinical therapy–directed classification schemes because they do not share the poor prognosis observed<ref name=":14" />. In a study, for patients with 44 chromosomes, monosomy 7, the presence of a dicentric chromosome, or both predicted a worse event-free survival (EFS) but similar overall survival (OS)<ref name=":3">{{Cite journal\|last=Nachman\|first=James B.\|last2=Heerema\|first2=Nyla A.\|last3=Sather\|first3=Harland\|last4=Camitta\|first4=Bruce\|last5=Forestier\|first5=Erik\|last6=Harrison\|first6=Christine J.\|last7=Dastugue\|first7=Nicole\|last8=Schrappe\|first8=Martin\|last9=Pui\|first9=Ching-Hon\|date=2007\|title=Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/17473063\|journal=Blood\|volume=110\|issue=4\|pages=1112–1115\|doi=10.1182/blood-2006-07-038299\|issn=0006-4971\|pmc=1939895\|pmid=17473063}}</ref>.

Sumire.Kitahara at 05:01, 15 February 2026

2026-02-15T05:01:28Z

← Older revision		Revision as of 00:01, 15 February 2026
Line 1:		Line 1:
	{{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with hypodiploidy}}		{{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with hypodiploidy}}[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

	[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

	~~{{Under Construction}}~~

	<blockquote class="blockedit">{{Box-round\|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification\|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:B-Lymphoblastic Leukemia/Lymphoma with Hypodiploidy]].
	~~}}</blockquote>~~

	<span style="color:#0070C0">(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)</span>

	==Primary Author(s)*==		==Primary Author(s)*==
Line 38:		Line 29:

	{\| class="wikitable"		{\| class="wikitable"
	\|+
	\|Acceptable		\|Acceptable
	\|N/A		\|N/A
Line 57:		Line 47:
	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span> ''ABL1''\|~~\|~~<span class="blue-text">EXAMPLE:<~~/~~span> ''BCR::ABL1''~~\|~~\|<span class="blue-text">EXAMPLE:<~~/~~span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.~~\|~~\|<span class="blue-text">EXAMPLE:<~~/~~span> t(9;22)(q34;q11.2)~~		\|N/A
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span> Common (CML)~~		\|N/A
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span> D, P, T~~		\|N/A
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span> Yes (WHO, NCCN)~~		\|N/A
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span>~~		\|N/A
	The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).		\|N/A
			\|N/A
			\|N/A
	\|}		\|}

	~~<blockquote class="blockedit">~~
	~~<center>~~
	~~----~~
	~~</blockquote>~~
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==

Miguel.GonzalezMancera: /* Genes and Main Pathways Involved */

2025-11-21T15:28:28Z

Genes and Main Pathways Involved

← Older revision		Revision as of 10:28, 21 November 2025
Line 260:		Line 260:
	\|Propagation of genetically altered cells.		\|Propagation of genetically altered cells.
	\|-		\|-
	\|''IKZF1, IKZF2, IKZF3, PAX5, EBF1, VPREB1''		\|''IKZF1, IKZF2, IKZF3, PAX5, EBF1, VPREB1''<ref name=":16" />
	\|B-cell development		\|B-cell development
	\|Altered lymphoid development and differentiation.		\|Altered lymphoid development and differentiation.
	\|-		\|-
	\|''PAG1''		\|''PAG1<ref name=":16" />''
	\|BCR signaling		\|BCR signaling
	\|Altered regulatory function in proximal B cell–receptor signaling.		\|Altered regulatory function in proximal B cell–receptor signaling.
	\|-		\|-
	\|''ETV6''		\|''ETV6<ref name=":16" />''
	\|Hematopoiesis		\|Hematopoiesis
	\|Not fully elucidated in this entity		\|Not fully elucidated in this entity
	\|-		\|-
	\|''ARPP21''		\|''ARPP21<ref name=":16" />''
	\|Calmodulin signaling		\|Calmodulin signaling
	\|Not fully elucidated in this entity		\|Not fully elucidated in this entity
	\|-		\|-
	\|''SLX4IP''		\|''SLX4IP<ref name=":16" />''
	\|Telomere length maintenance		\|Telomere length maintenance
	\|Not fully elucidated in this entity		\|Not fully elucidated in this entity
	\|-		\|-
	\|''CUL5''		\|''CUL5<ref name=":16" />''
	\|Ubiquitin pathway		\|Ubiquitin pathway
	\|Not fully elucidated in this entity		\|Not fully elucidated in this entity
	\|-		\|-
	\|''FAM53B''		\|''FAM53B<ref name=":16" />''
	\|Wnt signaling		\|Wnt signaling
	\|Not fully elucidated in this entity		\|Not fully elucidated in this entity
	\|-		\|-
	\|''PDS5B''		\|''PDS5B<ref name=":16" />''
	\|Cohesis complex		\|Cohesis complex
	\|Not fully elucidated in this entity		\|Not fully elucidated in this entity
	\|-		\|-
	\|''ANKRD11, DMD''		\|''ANKRD11, DMD<ref name=":16" />''
	\|Cell adhesion		\|Cell adhesion
	\|Not fully elucidated in this entity		\|Not fully elucidated in this entity

Miguel.GonzalezMancera: /* Characteristic Chromosomal or Other Global Mutational Patterns */

2025-11-21T13:32:22Z

Characteristic Chromosomal or Other Global Mutational Patterns

← Older revision		Revision as of 08:32, 21 November 2025
Line 97:		Line 97:
	</blockquote>		</blockquote>
	==Characteristic Chromosomal or Other Global Mutational Patterns==		==Characteristic Chromosomal or Other Global Mutational Patterns==
	This entity is defined by the presence of neoplastic lymphoblasts containing less than 46 chromosomes<ref name=":0">Borowitz MJ, et al., (2017). B-Lymphoblastic leukaemia/lymphoma with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p206.</ref>, and can be subdivided into near-haploid B-ALL/LBL with hypodiploidy (24–31 chromosomes); low-hypodiploid B-ALL/LBL with hypodiploidy (32–39 chromosomes); and high-hypodiploid B-ALL/LBL with hypodiploidy (40–43 chromosomes)<ref name=":13" /><ref name=":18">{{Cite journal\|last=Harrison\|first=Christine J.\|last2=Moorman\|first2=Anthony V.\|last3=Broadfield\|first3=Zoë J.\|last4=Cheung\|first4=Kan L.\|last5=Harris\|first5=Rachel L.\|last6=Reza Jalali\|first6=G.\|last7=Robinson\|first7=Hazel M.\|last8=Barber\|first8=Kerry E.\|last9=Richards\|first9=Sue M.\|date=2004\|title=Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/15147369\|journal=British Journal of Haematology\|volume=125\|issue=5\|pages=552–559\|doi=10.1111/j.1365-2141.2004.04948.x\|issn=0007-1048\|pmid=15147369}}</ref>. Of note, near-diploid cases (44–45 chromosomes) are not included in the hypodiploid category in clinical therapy–directed classification schemes because they do not share the poor prognosis observed<ref name=":14" />. In a study, for patients with 44 chromosomes, monosomy 7, the presence of a dicentric chromosome, or both predicted a worse event-free survival (EFS) but similar overall survival (OS)<ref name=":3">{{Cite journal\|last=Nachman\|first=James B.\|last2=Heerema\|first2=Nyla A.\|last3=Sather\|first3=Harland\|last4=Camitta\|first4=Bruce\|last5=Forestier\|first5=Erik\|last6=Harrison\|first6=Christine J.\|last7=Dastugue\|first7=Nicole\|last8=Schrappe\|first8=Martin\|last9=Pui\|first9=Ching-Hon\|date=2007\|title=Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/17473063\|journal=Blood\|volume=110\|issue=4\|pages=1112–1115\|doi=10.1182/blood-2006-07-038299\|issn=0006-4971\|pmc=1939895\|pmid=17473063}}</ref>.		This entity is defined by the presence of neoplastic lymphoblasts containing less than 46 chromosomes, and can be subdivided into near-haploid B-ALL/LBL with hypodiploidy (24–31 chromosomes); low-hypodiploid B-ALL/LBL with hypodiploidy (32–39 chromosomes); and high-hypodiploid B-ALL/LBL with hypodiploidy (40–43 chromosomes)<ref name=":13" /><ref name=":18">{{Cite journal\|last=Harrison\|first=Christine J.\|last2=Moorman\|first2=Anthony V.\|last3=Broadfield\|first3=Zoë J.\|last4=Cheung\|first4=Kan L.\|last5=Harris\|first5=Rachel L.\|last6=Reza Jalali\|first6=G.\|last7=Robinson\|first7=Hazel M.\|last8=Barber\|first8=Kerry E.\|last9=Richards\|first9=Sue M.\|date=2004\|title=Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/15147369\|journal=British Journal of Haematology\|volume=125\|issue=5\|pages=552–559\|doi=10.1111/j.1365-2141.2004.04948.x\|issn=0007-1048\|pmid=15147369}}</ref>. Of note, near-diploid cases (44–45 chromosomes) are not included in the hypodiploid category in clinical therapy–directed classification schemes because they do not share the poor prognosis observed<ref name=":14" />. In a study, for patients with 44 chromosomes, monosomy 7, the presence of a dicentric chromosome, or both predicted a worse event-free survival (EFS) but similar overall survival (OS)<ref name=":3">{{Cite journal\|last=Nachman\|first=James B.\|last2=Heerema\|first2=Nyla A.\|last3=Sather\|first3=Harland\|last4=Camitta\|first4=Bruce\|last5=Forestier\|first5=Erik\|last6=Harrison\|first6=Christine J.\|last7=Dastugue\|first7=Nicole\|last8=Schrappe\|first8=Martin\|last9=Pui\|first9=Ching-Hon\|date=2007\|title=Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/17473063\|journal=Blood\|volume=110\|issue=4\|pages=1112–1115\|doi=10.1182/blood-2006-07-038299\|issn=0006-4971\|pmc=1939895\|pmid=17473063}}</ref>.
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-

Miguel.GonzalezMancera: /* Individual Region Genomic Gain/Loss/LOH */

2025-11-21T13:31:19Z

Individual Region Genomic Gain/Loss/LOH

← Older revision		Revision as of 08:31, 21 November 2025
Line 71:		Line 71:
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==

	Please refer to section "Characteristic Chromosomal or Other Global Mutational Patterns" below.		Hypodiploid B-ALL is characterized by widespread genomic losses consistent with the hypodiploid karyotype<ref name=":13" />. Please refer to section "Characteristic Chromosomal or Other Global Mutational Patterns" below.
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-

Miguel.GonzalezMancera: /* Genes and Main Pathways Involved */

2025-11-21T13:17:38Z

Genes and Main Pathways Involved

← Older revision		Revision as of 08:17, 21 November 2025
Line 256:		Line 256:
	\|Constitutive activation of mitogenic and anti-apoptotic pathways, driving uncontrolled cell proliferation, survival, and malignant transformation.		\|Constitutive activation of mitogenic and anti-apoptotic pathways, driving uncontrolled cell proliferation, survival, and malignant transformation.
	\|-		\|-
	\|''CDKN2A/B, TP53, RB1''; Loss of function mutations		\|''CDKN2A/B, TP53, RB1''; Loss of function mutations<ref name=":2" />
	\|Cell cycle and apoptosis		\|Cell cycle and apoptosis
	\|Propagation of genetically altered cells.		\|Propagation of genetically altered cells.