CNS5:Diffuse astrocytoma, MYB- or MYBL1-altered: Difference between revisions

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==Gene Mutations (SNV/INDEL)==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
{| class="wikitable sortable"
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!'''Clinical Relevance Details/Other Notes'''
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''


<br />
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|<span class="blue-text">EXAMPLE:</span> T
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
<br />
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|<span class="blue-text">EXAMPLE:</span> P
|
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|<span class="blue-text">EXAMPLE:</span> T
|
|
|-
|
|
|
|
|
|
|
|}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.
==Epigenomic Alterations==
Put your text here
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==


Latest revision as of 13:41, 21 April 2026


Central Nervous System Tumours (WHO Classification, 5th ed.)

(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 HUGO-approved gene names and symbols (italicized when appropriate), HGVS-based nomenclature for variants, 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support.)

Primary Author(s)*

Scott C. Smith, PhD, FACMG; SUNY Upstate Medical University

WHO Classification of Disease

Structure Disease
Book Central Nervous System Tumours (5th ed.)
Category Gliomas, glioneuronal tumours, and neuronal tumours
Family Gliomas, glioneuronal tumours, and neuronal tumours
Type Paediatric-type diffuse low-grade gliomas
Subtype(s) Diffuse astrocytoma, MYB- or MYBL1-altered

Related Terminology

Acceptable N/A
Not Recommended Isomorphic astrocytoma variant; isomorphic diffuse glioma

Gene Rearrangements

Put your text here and fill in the table (Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Driver Gene Fusion(s) and Common Partner Genes Molecular Pathogenesis Typical Chromosomal Alteration(s) Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease) Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE: ABL1 EXAMPLE: BCR::ABL1 EXAMPLE: The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1. EXAMPLE: t(9;22)(q34;q11.2) EXAMPLE: Common (CML) EXAMPLE: D, P, T EXAMPLE: Yes (WHO, NCCN) EXAMPLE:

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).

EXAMPLE: CIC EXAMPLE: CIC::DUX4 EXAMPLE: Typically, the last exon of CIC is fused to DUX4. The fusion breakpoint in CIC is usually intra-exonic and removes an inhibitory sequence, upregulating PEA3 genes downstream of CIC including ETV1, ETV4, and ETV5. EXAMPLE: t(4;19)(q25;q13) EXAMPLE: Common (CIC-rearranged sarcoma) EXAMPLE: D EXAMPLE:

DUX4 has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).

EXAMPLE: ALK EXAMPLE: ELM4::ALK


Other fusion partners include KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1

EXAMPLE: Fusions result in constitutive activation of the ALK tyrosine kinase. The most common ALK fusion is EML4::ALK, with breakpoints in intron 19 of ALK. At the transcript level, a variable (5’) partner gene is fused to 3’ ALK at exon 20. Rarely, ALK fusions contain exon 19 due to breakpoints in intron 18. EXAMPLE: N/A EXAMPLE: Rare (Lung adenocarcinoma) EXAMPLE: T EXAMPLE:

Both balanced and unbalanced forms are observed by FISH (add references).

EXAMPLE: ABL1 EXAMPLE: N/A EXAMPLE: Intragenic deletion of exons 2–7 in EGFR removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways. EXAMPLE: N/A EXAMPLE: Recurrent (IDH-wildtype Glioblastoma) EXAMPLE: D, P, T


Add content below into table above -       MYB or MYBL1 rearrangement

MYB or MYBL1 amplification

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
6q23.3 rearrangement Yes Yes Multiple potential  partners
8q13.1 rearrangement Yes Yes Multiple potential  partners
del(6)(q23.3q26); t(6;6)(q23.3;q26) MYB::QKI Yes Yes Creates fusion oncogenic protein


Individual Region Genomic Gain/Loss/LOH

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.)

Chr # Gain, Loss, Amp, LOH Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size] Relevant Gene(s) Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:

7

EXAMPLE: Loss EXAMPLE:

chr7

EXAMPLE:

Unknown

EXAMPLE: D, P EXAMPLE: No EXAMPLE:

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).

EXAMPLE:

8

EXAMPLE: Gain EXAMPLE:

chr8

EXAMPLE:

Unknown

EXAMPLE: D, P EXAMPLE:

Common recurrent secondary finding for t(8;21) (add references).

EXAMPLE:

17

EXAMPLE: Amp EXAMPLE:

17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]

EXAMPLE:

ERBB2

EXAMPLE: D, P, T EXAMPLE:

Amplification of ERBB2 is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.


Add content below into table above -       MYB or MYBL1 copy number variation as identified by chromosomal microarray or FISH

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
6 Amp/Loss/Gain 135502446-135540310 [GRCh37] 6q23.3 Yes Yes Yes[1] [2][3][4]
8 Amp/Loss/Gain 67474410-67525453 [GRCh37] 8q13.1 Yes Yes Unknown [5][6]


Characteristic Chromosomal or Other Global Mutational Patterns

Put your text here and fill in the table (Instructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Chromosomal Pattern Molecular Pathogenesis Prevalence -

Common >20%, Recurrent 5-20% or Rare <5% (Disease)

Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:

Co-deletion of 1p and 18q

EXAMPLE: See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). EXAMPLE: Common (Oligodendroglioma) EXAMPLE: D, P
EXAMPLE:

Microsatellite instability - hypermutated

EXAMPLE: Common (Endometrial carcinoma) EXAMPLE: P, T


Add content below into table above -       Possible detection of double minutes or homogeneously stained regions by G-banding for amplification; will require confirmation of being associated with MYB or MYBL (likely by chromosomal microarray)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
6q23.3 hsr;  MYB amplification Scott C. Smith,

PhD, FACMG; SUNY Upstate Medical University

No Unknown Unknown
8q13.1 hsr; MYBL1 amplificationScott C. Smith,

PhD, FACMG; SUNY Upstate Medical University

No Unknown Unknown

Gene Mutations (SNV/INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Gene Genetic Alteration Tumor Suppressor Gene, Oncogene, Other Prevalence -

Common >20%, Recurrent 5-20% or Rare <5% (Disease)

Diagnostic, Prognostic, and Therapeutic Significance - D, P, T   Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:EGFR


EXAMPLE: Exon 18-21 activating mutations EXAMPLE: Oncogene EXAMPLE: Common (lung cancer) EXAMPLE: T EXAMPLE: Yes (NCCN) EXAMPLE: Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
EXAMPLE: TP53; Variable LOF mutations


EXAMPLE: Variable LOF mutations EXAMPLE: Tumor Supressor Gene EXAMPLE: Common (breast cancer) EXAMPLE: P EXAMPLE: >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
EXAMPLE: BRAF; Activating mutations EXAMPLE: Activating mutations EXAMPLE: Oncogene EXAMPLE: Common (melanoma) EXAMPLE: T

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations

Put your text here

Genes and Main Pathways Involved

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
MYB/MYBL1 3’-deletion MYB/MYBL1 protooncogene Deregulation of MYB/MYBL1
MYB/MYBL1 amplification MYB/MYBL1 protooncogene Overexpression of MYB/MYBL1

Genetic Diagnostic Testing Methods

Sequencing, PCR, RT-PCR, chromosomal microarray, FISH, possibly detection of double minutes or homogenously stained regions by G-banding

Familial Forms

N/A

Additional Information

This disease is defined/characterized as detailed below:

  • Diffuse astrocytoma, MYB or MYBL1-altered is one of several newly recognized tumor types in the 5th edition of the WHO Classification of Tumors of the Central Nervous System. The newly recognized classifications were in response to advances in understanding of pediatric-type gliomas, facilitated by an increased molecular characterization of these tumors. Diffuse astrocytoma, MYB or MYBL1-altered is a subset of diffuse low-grade glioma with amplifications, structural variants, and fusions involving the MYB and MYBL1 protooncogenes. Diffuse astrocytoma, MYB or MYBL1-altered subtypes are without characteristic histological features of angiocentric glioma[7][8]. A related group of diffuse gliomas, the isomorphic glioma, occur predominantly in adults and are typically well-differentiated, low to moderately cellular, comprised of astrocytes with rounded nuclei and regular chromatin structures, and have low proliferative indices[9][10]. These adult diffuse gliomas exhibit alterations of MYBL1 rather than MYB. Gene fusions with multiple partners characterize the pediatric MYB or MYBL1-altered gliomas[11][12]. The most frequently identified fusion is with QKI[13][14]. The MYB or MYBL1-altered diffuse gliomas in both children and adults are generally indolent and behave in a WHO grade 1 fashion.

The clinical features of this disease are detailed below:

  • Medically refractory epilepsy since childhood.
  • Signs and symptoms - History of epilepsy or seizure; Magnetic resonance imaging (MRI): well-delineated, occasionally infiltrative-appearing, non-enhancing T1-hypointense, T2-fluid attenuated inversion recovery-hyperintense lesion without restricted diffusion[15]
  • Laboratory findings - Genetics: Negative for IDH1 p.R132H, BRAF p.V600E; positive for MYBL1 or MYB rearrangement, amplification, or copy number change

The sites of involvement of this disease are detailed below:

  • Supratentorial (adult), cortical and subcortical regions of the cerebral cortex (pediatric)[16]

The morphologic features of this disease are detailed below:

  • Histomorphology: minimally to moderately hypercellular tumor; diffuse infiltration by monomorphic cells with ovoid to elongated nuclei, scant cytoplasm, fibrillary background[17][18]

The immunophenotype of this disease is detailed below:

  • Positivity for GFAP, below 1% Ki-67 index, negative for OLIG2 and IDH1 R132H[19]
  • Positive (universal) - GFAP
  • Positive (subset) - Ki-67 index below 1%
  • Negative (universal) - OLIG2, IDH1 R132H

Links

None

References

  1. ↑ Trkova, Katerina; Sumerauer, David; Krskova, Lenka; Vicha, Ales; Koblizek, Miroslav; Votava, Tomas; Priban, Vladimir; Zapotocky, Michal (2023-09). "DIPG-like MYB-altered diffuse astrocytoma with durable response to intensive chemotherapy". Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery. 39 (9): 2509–2513. doi:10.1007/s00381-023-05976-3. ISSN 1433-0350. PMC 10432314. PMID 37165121. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link)
  2. ↑ Ramkissoon, Lori A.; Horowitz, Peleg M.; Craig, Justin M.; Ramkissoon, Shakti H.; Rich, Benjamin E.; Schumacher, Steven E.; McKenna, Aaron; Lawrence, Michael S.; Bergthold, Guillaume (2013-05-14). "Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1". Proceedings of the National Academy of Sciences of the United States of America. 110 (20): 8188–8193. doi:10.1073/pnas.1300252110. ISSN 1091-6490. PMC 3657784. PMID 23633565.
  3. ↑ Bale, Tejus A.; Rosenblum, Marc K. (2022-07). "The 2021 WHO Classification of Tumors of the Central Nervous System: An update on pediatric low-grade gliomas and glioneuronal tumors". Brain Pathology (Zurich, Switzerland). 32 (4): e13060. doi:10.1111/bpa.13060. ISSN 1750-3639. PMC 9245930. PMID 35218102. {{cite journal}}: Check date values in: |date= (help)CS1 maint: article number as page number (link)
  4. ↑ Trkova, Katerina; Sumerauer, David; Krskova, Lenka; Vicha, Ales; Koblizek, Miroslav; Votava, Tomas; Priban, Vladimir; Zapotocky, Michal (2023-09). "DIPG-like MYB-altered diffuse astrocytoma with durable response to intensive chemotherapy". Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery. 39 (9): 2509–2513. doi:10.1007/s00381-023-05976-3. ISSN 1433-0350. PMC 10432314. PMID 37165121. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link)
  5. ↑ Ramkissoon, Lori A.; Horowitz, Peleg M.; Craig, Justin M.; Ramkissoon, Shakti H.; Rich, Benjamin E.; Schumacher, Steven E.; McKenna, Aaron; Lawrence, Michael S.; Bergthold, Guillaume (2013-05-14). "Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1". Proceedings of the National Academy of Sciences of the United States of America. 110 (20): 8188–8193. doi:10.1073/pnas.1300252110. ISSN 1091-6490. PMC 3657784. PMID 23633565.
  6. ↑ Bale, Tejus A.; Rosenblum, Marc K. (2022-07). "The 2021 WHO Classification of Tumors of the Central Nervous System: An update on pediatric low-grade gliomas and glioneuronal tumors". Brain Pathology (Zurich, Switzerland). 32 (4): e13060. doi:10.1111/bpa.13060. ISSN 1750-3639. PMC 9245930. PMID 35218102. {{cite journal}}: Check date values in: |date= (help)CS1 maint: article number as page number (link)
  7. ↑ Slegers, Rutger Juriaan; Blumcke, Ingmar (2020-03-09). "Low-grade developmental and epilepsy associated brain tumors: a critical update 2020". Acta Neuropathologica Communications. 8 (1): 27. doi:10.1186/s40478-020-00904-x. ISSN 2051-5960. PMC 7063704. PMID 32151273.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  8. ↑ Bandopadhayay, Pratiti; Ramkissoon, Lori A.; Jain, Payal; Bergthold, Guillaume; Wala, Jeremiah; Zeid, Rhamy; Schumacher, Steven E.; Urbanski, Laura; O'Rourke, Ryan (2016-03). "MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism". Nature Genetics. 48 (3): 273–282. doi:10.1038/ng.3500. ISSN 1546-1718. PMC 4767685. PMID 26829751. {{cite journal}}: Check date values in: |date= (help)
  9. ↑ Wefers, Annika K.; Stichel, Damian; Schrimpf, Daniel; Coras, Roland; Pages, Mélanie; Tauziède-Espariat, Arnault; Varlet, Pascale; Schwarz, Daniel; Söylemezoglu, Figen (2020-01). "Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course". Acta Neuropathologica. 139 (1): 193–209. doi:10.1007/s00401-019-02078-w. ISSN 1432-0533. PMC 7477753. PMID 31563982. {{cite journal}}: Check date values in: |date= (help)
  10. ↑ Chiang, Jason; Harreld, Julie H.; Tinkle, Christopher L.; Moreira, Daniel C.; Li, Xiaoyu; Acharya, Sahaja; Qaddoumi, Ibrahim; Ellison, David W. (2019-12). "A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration". Acta Neuropathologica. 138 (6): 1091–1092. doi:10.1007/s00401-019-02081-1. ISSN 1432-0533. PMC 7467132. PMID 31595312. {{cite journal}}: Check date values in: |date= (help)
  11. ↑ Ramkissoon, Lori A.; Horowitz, Peleg M.; Craig, Justin M.; Ramkissoon, Shakti H.; Rich, Benjamin E.; Schumacher, Steven E.; McKenna, Aaron; Lawrence, Michael S.; Bergthold, Guillaume (2013-05-14). "Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1". Proceedings of the National Academy of Sciences of the United States of America. 110 (20): 8188–8193. doi:10.1073/pnas.1300252110. ISSN 1091-6490. PMC 3657784. PMID 23633565.
  12. ↑ Barinfeld, Orit; Zahavi, Alon; Weiss, Shirel; Toledano, Helen; Michowiz, Shalom; Goldenberg-Cohen, Nitza (2022). "Genetic Alteration Analysis of IDH1, IDH2, CDKN2A, MYB and MYBL1 in Pediatric Low-Grade Gliomas". Frontiers in Surgery. 9: 880048. doi:10.3389/fsurg.2022.880048. ISSN 2296-875X. PMC 9096721. PMID 35574540.{{cite journal}}: CS1 maint: article number as page number (link) CS1 maint: unflagged free DOI (link)
  13. ↑ Suh, Ye Yoon; Lee, Kwanghoon; Shim, Yu-Mi; Phi, Ji Hoon; Park, Chul-Kee; Kim, Seung-Ki; Choi, Seung Hong; Yun, Hongseok; Park, Sung-Hye (2023-02-21). "MYB/MYBL1::QKI fusion-positive diffuse glioma". Journal of Neuropathology and Experimental Neurology. 82 (3): 250–260. doi:10.1093/jnen/nlac123. ISSN 1554-6578. PMC 9941827. PMID 36592415.
  14. ↑ Jain, Payal; Resnick, Adam C. (2017-03-04). "MYB-QKI drives childhood brain tumors via tripartite mechanism". Cell Cycle (Georgetown, Tex.). 16 (5): 390–391. doi:10.1080/15384101.2016.1260990. ISSN 1551-4005. PMC 5351923. PMID 27973981.
  15. ↑ Fabbri, Viscardo Paolo; Caporalini, Chiara; Asioli, Sofia; Buccoliero, Annamaria (2022-12). "Paediatric-type diffuse low-grade gliomas: a clinically and biologically distinct group of tumours with a favourable outcome". Pathologica. 114 (6): 410–421. doi:10.32074/1591-951X-828. ISSN 1591-951X. PMC 9763978. PMID 36534420. {{cite journal}}: Check date values in: |date= (help)
  16. ↑ Fabbri, Viscardo Paolo; Caporalini, Chiara; Asioli, Sofia; Buccoliero, Annamaria (2022-12). "Paediatric-type diffuse low-grade gliomas: a clinically and biologically distinct group of tumours with a favourable outcome". Pathologica. 114 (6): 410–421. doi:10.32074/1591-951X-828. ISSN 1591-951X. PMC 9763978. PMID 36534420. {{cite journal}}: Check date values in: |date= (help)
  17. ↑ Fabbri, Viscardo Paolo; Caporalini, Chiara; Asioli, Sofia; Buccoliero, Annamaria (2022-12). "Paediatric-type diffuse low-grade gliomas: a clinically and biologically distinct group of tumours with a favourable outcome". Pathologica. 114 (6): 410–421. doi:10.32074/1591-951X-828. ISSN 1591-951X. PMC 9763978. PMID 36534420. {{cite journal}}: Check date values in: |date= (help)
  18. ↑ Suh, Ye Yoon; Lee, Kwanghoon; Shim, Yu-Mi; Phi, Ji Hoon; Park, Chul-Kee; Kim, Seung-Ki; Choi, Seung Hong; Yun, Hongseok; Park, Sung-Hye (2023-02-21). "MYB/MYBL1::QKI fusion-positive diffuse glioma". Journal of Neuropathology and Experimental Neurology. 82 (3): 250–260. doi:10.1093/jnen/nlac123. ISSN 1554-6578. PMC 9941827. PMID 36592415.
  19. ↑ Wefers, Annika K.; Stichel, Damian; Schrimpf, Daniel; Coras, Roland; Pages, Mélanie; Tauziède-Espariat, Arnault; Varlet, Pascale; Schwarz, Daniel; Söylemezoglu, Figen (2020-01). "Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course". Acta Neuropathologica. 139 (1): 193–209. doi:10.1007/s00401-019-02078-w. ISSN 1432-0533. PMC 7477753. PMID 31563982. {{cite journal}}: Check date values in: |date= (help)

Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the Associate Editor or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

Prior Author(s): *Citation of this Page: “Diffuse astrocytoma, MYB- or MYBL1-altered”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 04/21/2026, https://ccga.io/index.php/CNS5:Diffuse astrocytoma, MYB- or MYBL1-altered.

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