Compendium of Cancer Genome Aberrations

BRST5:Adenoid cystic carcinoma: Difference between revisions

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==Primary Author(s)*==
==Primary Author(s)*==
Katherine Geiersbach, MD, Mayo Clinic, and Jun Liao, PhD, Columbia University Irving Medical Center


__TOC__
__TOC__
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==Cancer Category/Type==
==Cancer Category/Type==


Breast Cancer / Epithelial Tumours of the Breast
Breast cancer


==Cancer Sub-Classification / Subtype==
==Cancer Sub-Classification / Subtype==


Rare and Salivary Gland-type Tumours / Adenoid cystic carcinoma
Put your text here


==Definition / Description of Disease==
==Definition / Description of Disease==


Invasive carcinoma with a characteristic histologic pattern, comprised of epithelial and myoepithelial cells. Epithelial cells form glands with lumina containing mucoid material; associated stromal matrix is present, forming irregular spaces called pseudolumina. Subtypes include classic adenoid cystic carcinoma, solid-basaloid adenoid cystic carcinoma, and adenoid cystic carcinoma with high-grade transformation.
Put your text here


==Synonyms / Terminology==
==Synonyms / Terminology==


Cylindroma (Historical)
Put your text here


==Epidemiology / Prevalence==
==Epidemiology / Prevalence==


Rare; approximately 0.1% of all breast cancers
Put your text here


==Clinical Features==
==Clinical Features==
{| class="wikitable"
 
|'''Signs and Symptoms'''
Put your text here
|Palpable breast mass, mainly in elderly patients
Suspicious lesion on mammography
|-
|'''Laboratory Findings'''
|N/A
|}


==Sites of Involvement==
==Sites of Involvement==


Any quadrant of the breast; retroareolar most common
Put your text here


==Morphologic Features==
==Morphologic Features==


Tubular, cribriform, and solid patterns are observed.
Put your text here


The classic subtype contains epithelial and myoepithelial cells with spaces called pseudolamina that contain stromal matrix with stromal cells (endothelial cells, fibroblasts) and basement membrane material (stains positive for collagen IV and laminin). Two cell populations are observed: an epithelial component that stains with low molecular weight cytokeratins (CK7, CK8), EMA, and sometimes CK5/6, and a myoepithelial component that stains with high molecular weight cytokeratins (CK14, CK5/6, p63) and typically also with myoepithelial markers (heavy-chain myosin, calponin, S100, CD10).
==Immunophenotype==
 
The solid basaloid subtype contains solid nests of basaloid cells with high grade nuclear features (marked nuclear atypia, high mitotic count, and necrosis).
 
Rare cases of adenoid cystic carcinoma can undergo high-grade transformation.
[[File:10x AdCC HE stain.tif|none|thumb|844x844px|H&E stained section of an adenoid cystic carcinoma of the left breast in an 81 year old female. Stromal elements surround and infiltrate into the nests of neoplastic cells, forming pseudolumina (bottom left). Image captured at 10x magnification by light microscopy.]]
<br />


==Immunophenotype==
Put your text here and/or fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
! Finding   !! Marker
|-
|-
|Positive (universal)||Epithelial cells: low molecular weight cytokeratins CK7 and CK8; EMA; SOX10<ref name=":0">{{Cite journal|last=Yang|first=Chen|last2=Zhang|first2=Lingxin|last3=Sanati|first3=Souzan|date=2019|title=SOX10 Is a Sensitive Marker for Breast and Salivary Gland Adenoid Cystic Carcinoma: Immunohistochemical Characterization of Adenoid Cystic Carcinomas|url=https://pubmed.ncbi.nlm.nih.gov/31105427|journal=Breast Cancer: Basic and Clinical Research|volume=13|pages=1178223419842185|doi=10.1177/1178223419842185|issn=1178-2234|pmc=6501487|pmid=31105427}}</ref>
|Positive (universal) || EXAMPLE CD1
Myoepithelial cells: MYB<ref>{{Cite journal|last=Poling|first=Justin S.|last2=Yonescu|first2=Raluca|last3=Subhawong|first3=Andrea P.|last4=Sharma|first4=Rajni|last5=Argani|first5=Pedram|last6=Ning|first6=Yi|last7=Cimino-Mathews|first7=Ashley|date=2017-07|title=MYB Labeling by Immunohistochemistry Is More Sensitive and Specific for Breast Adenoid Cystic Carcinoma than MYB Labeling by FISH|url=https://pubmed.ncbi.nlm.nih.gov/28498281|journal=The American Journal of Surgical Pathology|volume=41|issue=7|pages=973–979|doi=10.1097/PAS.0000000000000878|issn=1532-0979|pmid=28498281}}</ref>; CK14, CK5/6, SOX10<ref name=":0" />
|-
|-
|Positive (subset)||Epithelial cells: KIT (CD117)
|Positive (subset) || EXAMPLE CD2
Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10, p63
|-
|-
|Negative (universal)||ER, PR, HER2, neuroendocrine markers (chromogranin, synaptophysin)
|Negative (universal) || EXAMPLE CD3
|-
|-
|Negative (subset)||
|Negative (subset) || EXAMPLE CD4
|}
|}


==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions)==
Recurrent rearrangements of ''MYB'' (or, more rarely, the paralogous gene ''MYBL1'') preserve the N-terminal DNA binding domain and transactivation domain in the chimeric gene product. The C-terminal regulatory domains of ''MYB'' or ''MYBL1'' is generally absent in the active fusion, but the intact gene sequence is preserved in reported cases of ''MYB'' amplification and in some ''MYBL1'' rearrangements.<ref name=":1">{{Cite journal|last=Persson|first=Marta|last2=Andrén|first2=Ywonne|last3=Mark|first3=Joachim|last4=Horlings|first4=Hugo M.|last5=Persson|first5=Fredrik|last6=Stenman|first6=Göran|date=2009-11-03|title=Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck|url=https://pubmed.ncbi.nlm.nih.gov/19841262|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=106|issue=44|pages=18740–18744|doi=10.1073/pnas.0909114106|issn=1091-6490|pmc=2773970|pmid=19841262}}</ref><ref name=":2">{{Cite journal|last=Kim|first=Jisun|last2=Geyer|first2=Felipe C.|last3=Martelotto|first3=Luciano G.|last4=Ng|first4=Charlotte Ky|last5=Lim|first5=Raymond S.|last6=Selenica|first6=Pier|last7=Li|first7=Anqi|last8=Pareja|first8=Fresia|last9=Fusco|first9=Nicola|date=2018-02|title=MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene|url=https://pubmed.ncbi.nlm.nih.gov/29149504|journal=The Journal of Pathology|volume=244|issue=2|pages=143–150|doi=10.1002/path.5006|issn=1096-9896|pmc=5839480|pmid=29149504}}</ref> Single cases of other fusions have been reported, including a  ''KMT2C''::''WEE2'' fusion reported by Schwartz and others<ref name=":8">{{Cite journal|last=Schwartz|first=Christopher J.|last2=Brogi|first2=Edi|last3=Marra|first3=Antonio|last4=Da Cruz Paula|first4=Arnaud F.|last5=Nanjangud|first5=Gouri J.|last6=da Silva|first6=Edaise M.|last7=Patil|first7=Sujata|last8=Shah|first8=Shreena|last9=Ventura|first9=Katia|date=2022-02|title=The clinical behavior and genomic features of the so-called adenoid cystic carcinomas of the solid variant with basaloid features|url=https://pubmed.ncbi.nlm.nih.gov/34599282|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=35|issue=2|pages=193–201|doi=10.1038/s41379-021-00931-6|issn=1530-0285|pmc=9197148|pmid=34599282}}</ref>, 
 
Put your text here and/or fill in the table
 
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
! 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
|-
|-
|t(6;9)(q23.3;p23)||''MYB''::''NFIB''||der(6)||54%
|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
|Yes
|No
|Yes
|Most common fusion breakpoints involve exon 14 of ''MYB'' fused to exon 9 or exon 8c of ''NFIB''.<ref name=":1" /><ref>{{Cite journal|last=D'Alfonso|first=Timothy M.|last2=Mosquera|first2=Juan Miguel|last3=MacDonald|first3=Theresa Y.|last4=Padilla|first4=Jessica|last5=Liu|first5=Yi-Fang|last6=Rubin|first6=Mark A.|last7=Shin|first7=Sandra J.|date=2014-11|title=MYB-NFIB gene fusion in adenoid cystic carcinoma of the breast with special focus paid to the solid variant with basaloid features|url=https://pubmed.ncbi.nlm.nih.gov/25217885|journal=Human Pathology|volume=45|issue=11|pages=2270–2280|doi=10.1016/j.humpath.2014.07.013|issn=1532-8392|pmid=25217885}}</ref><ref name=":3">{{Cite journal|last=Martelotto|first=Luciano G.|last2=De Filippo|first2=Maria R.|last3=Ng|first3=Charlotte K. Y.|last4=Natrajan|first4=Rachael|last5=Fuhrmann|first5=Laetitia|last6=Cyrta|first6=Joanna|last7=Piscuoglio|first7=Salvatore|last8=Wen|first8=Huei-Chi|last9=Lim|first9=Raymond S.|date=2015-10|title=Genomic landscape of adenoid cystic carcinoma of the breast|url=https://pubmed.ncbi.nlm.nih.gov/26095796|journal=The Journal of Pathology|volume=237|issue=2|pages=179–189|doi=10.1002/path.4573|issn=1096-9896|pmc=4676955|pmid=26095796}}</ref>
|-
|-
|t(8;9)(q13.1;p23)
|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
|''MYBL1''::''NFIB''
|
|
|
|
|
|Reported breakpoints involve exon 14 of ''MYBL1'' fused to exon 9 of ''NFIB''<ref name=":2" />
|-
|t(6;v)(q23.3;v)
|''MYB''
|
|
|
|
|
|Fusions involving ''MYB'' with other gene partners or complex structural abnormalities associated with ''MYB'' gene fusion generate more complex karyotypes. Loss of 3' portion of ''MYB'' reported in one case<ref name=":2" />. Other reported ''MYB'' fusion partners include ''EWSR1'' (with ''EWSR1'' as the 5' partner, exon 10, fused to exon 2 of ''MYB'')<ref>{{Cite journal|last=Lei|first=Ting|last2=Shi|first2=Yongqiang|last3=Da|first3=Wenyue|last4=Xia|first4=Cunyan|last5=Wang|first5=Hui|date=2023-01-31|title=A novel EWSR1-MYB fusion in an aggressive advanced breast adenoid cystic carcinoma with mixed classical and solid-basaloid components|url=https://pubmed.ncbi.nlm.nih.gov/36719454|journal=Virchows Archiv: An International Journal of Pathology|doi=10.1007/s00428-023-03500-1|issn=1432-2307|pmid=36719454}}</ref>.
|-
|t(8;v)(q13.1;v)
|''MYBL1''
|
|
|
|
|
|Fusions involving ''MYBL1'' with other gene partners or more complex structural abnormalities associated with ''MYBL1'' gene fusion generate more complex karyotypes. Other reported ''MYBL1'' gene partners include ''ACTN1''<ref name=":2" />.
|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Characteristic Chromosomal Aberrations / Patterns==


Amplification or copy state transitions (gain or loss) on 6q23.3 associated with ''MYB'' rearrangement are the most commonly reported alterations in adenoid cystic carcinoma. Other individually reported alterations include gains of 1p36.12–p35.3, 11p15.5, 12p13.31, 16p13.3, and 19p13, and losses of 6q25.3-q26 and 9p11.1–q21.11 in an array CGH study of 14 adenoid cystic carcinomas by Wetterskog and others<ref name=":4">{{Cite journal|last=Wetterskog|first=Daniel|last2=Lopez-Garcia|first2=Maria Angeles|last3=Lambros|first3=Maryou B.|last4=A'Hern|first4=Roger|last5=Geyer|first5=Felipe C.|last6=Milanezi|first6=Fernanda|last7=Cabral|first7=Maria C.|last8=Natrajan|first8=Rachael|last9=Gauthier|first9=Arnaud|date=2012-01|title=Adenoid cystic carcinomas constitute a genomically distinct subgroup of triple-negative and basal-like breast cancers|url=https://pubmed.ncbi.nlm.nih.gov/22015727|journal=The Journal of Pathology|volume=226|issue=1|pages=84–96|doi=10.1002/path.2974|issn=1096-9896|pmid=22015727}}</ref>, gains of 17q21-q25.1 and losses of 12q12-q14.1 detected by whole exome sequencing on 12 adenoid cystic carcinoma in a study by Martelotto and others<ref name=":3" />, and a terminal 6q loss in one case (6q23.3-6q27) and whole chromosome losses (-4, -7, -14, -X) in a second case by targeted next generation sequencing in a study by Fusco and others<ref name=":6">{{Cite journal|last=Fusco|first=Nicola|last2=Geyer|first2=Felipe C.|last3=De Filippo|first3=Maria R.|last4=Martelotto|first4=Luciano G.|last5=Ng|first5=Charlotte K. Y.|last6=Piscuoglio|first6=Salvatore|last7=Guerini-Rocco|first7=Elena|last8=Schultheis|first8=Anne M.|last9=Fuhrmann|first9=Laetitia|date=2016-11|title=Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer|url=https://pubmed.ncbi.nlm.nih.gov/27491809|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=29|issue=11|pages=1292–1305|doi=10.1038/modpathol.2016.134|issn=1530-0285|pmc=5083185|pmid=27491809}}</ref>. A terminal loss on 6q (6q23.3-6q27) detected by array CGH was separately reported in a case with ''MYB'' rearrangement by Kovacs and others<ref name=":7">{{Cite journal|last=Kovács|first=Anikó|last2=Persson|first2=Fredrik|last3=Persson|first3=Marta|last4=Andersson|first4=Mattias K.|last5=Stenman|first5=Göran|date=2017-09|title=Genomic imbalances and MYB fusion in synchronous bilateral adenoid cystic carcinoma and invasive lobular carcinoma of the breast|url=https://pubmed.ncbi.nlm.nih.gov/28894575|journal=Molecular and Clinical Oncology|volume=7|issue=3|pages=322–326|doi=10.3892/mco.2017.1330|issn=2049-9450|pmc=5582535|pmid=28894575}}</ref>. Recurrent copy number alterations reported in a study by Masse and others included losses on 12q, losses or gains on 17p, and amplification of ''CCND1'' on 11q13.3 detected by array CGH<ref name=":5" />. The common recurrent alterations are shown in the table below.
Put your text here
 
==Genomic Gain/Loss/LOH==
 
Put your text here and/or fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|6
|Amp
|chr6:135,502,453-135,540,311 [GRCh37/hg19]
|6q23.3
|Yes
|No
|No
|''MYB'' amplification in one case reported as a range of 3-10 copies by FISH associated with ''MYB'' overexpression<ref name=":2" />; two others reported in a study by Yao and others without copy number specified<ref>{{Cite journal|last=Yao|first=Qian|last2=Hou|first2=Wei|last3=Chen|first3=Junbing|last4=Bai|first4=Yanhua|last5=Long|first5=Mengping|last6=Huang|first6=Xiaozheng|last7=Zhao|first7=Chen|last8=Zhou|first8=Lixin|last9=Niu|first9=Dongfeng|date=2022|title=Comparative proteomic and clinicopathological analysis of breast adenoid cystic carcinoma and basal-like triple-negative breast cancer|url=https://pubmed.ncbi.nlm.nih.gov/35966872|journal=Frontiers in Medicine|volume=9|pages=943887|doi=10.3389/fmed.2022.943887|issn=2296-858X|pmc=9366086|pmid=35966872}}</ref>
|-
|6
|Gain or Loss
|chr6:135,502,453-135,540,311 [GRCh37/hg19]
|6q23.3
|Yes
|No
|No
|Copy state transitions within ''MYB'' gene region typically associated with ''MYB'' fusion<ref name=":6" /><ref name=":7" />
|}
==Characteristic Chromosomal Patterns==
 
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|-
|N/A
|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
|N/A
|}
|N/A
|N/A
|N/A
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==


Common recurrent mutations are shown in the table below. Others include ''ARID1A''<ref name=":5" />, ''PIK3R1''<ref name=":5" />, and ''TLN2''<ref name=":3" />.
Put your text here and/or fill in the tables


{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC / TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other)
!'''Diagnostic Significance (Yes, No or Unknown)'''
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|-
|''NOTCH1'', ''NOTCH2'', and ''NOTCH3''; sequence variants <ref name=":5">{{Cite journal|last=Massé|first=Julie|last2=Truntzer|first2=Caroline|last3=Boidot|first3=Romain|last4=Khalifa|first4=Emmanuel|last5=Pérot|first5=Gaëlle|last6=Velasco|first6=Valérie|last7=Mayeur|first7=Laétitia|last8=Billerey-Larmonier|first8=Claire|last9=Blanchard|first9=Larry|date=2020-06|title=Solid-type adenoid cystic carcinoma of the breast, a distinct molecular entity enriched in NOTCH and CREBBP mutations|url=https://pubmed.ncbi.nlm.nih.gov/31857685|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=33|issue=6|pages=1041–1055|doi=10.1038/s41379-019-0425-3|issn=1530-0285|pmid=31857685}}</ref>
| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
|Gain of function
|}
|22-28% solid basaloid subtype <ref name=":8" /> <ref name=":5" />
|
===Other Mutations===
|
{| class="wikitable sortable"
|
|
|
|Mostly solid basaloid subtype, with poorer prognosis <ref name=":8" /> NOTCH mutations cause resistance to BET bromodomain inhibitors<br />
|-
|-
|''CREBBP''; inactivating sequence variants <ref name=":5" />
! Type !! Gene/Region/Other
|Loss of function
|17-33% solid basaloid subtype <ref name=":8" /><ref name=":5" />
|
|
|
|
|
|Mostly solid basaloid subtype, with poorer prognosis
|-
|-
|''KMT2C''; inactivating sequence variants, deletion <ref name=":5" />
| Concomitant Mutations || EXAMPLE IDH1 R123H
|Loss of function
|22% solid basaloid subtype in one study <ref name=":8" />
|
|
|
|
|
|Mostly solid basaloid subtype, with poorer prognosis
|-
|-
|''KDM6A''; inactivating sequence variants
| Secondary Mutations || EXAMPLE Trisomy 7
|Loss of function
|22% solid basaloid subtype in one study <ref name=":8" />
|
|
|
|
|
|Mostly solid basaloid subtype, with poorer prognosis
|-
|-
|''CDK12''; missense<ref name=":5" />
|Mutually Exclusive || EXAMPLE EGFR Amplification
|Loss of function
|38% solid basaloid subtype in one study <ref name=":5" />
|
|
|
|
|
|Mostly solid basaloid subtype, with poorer prognosis
|}
|}
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases.


==Epigenomic Alterations==
==Epigenomics (Methylation)==


<br />
Put your text here


==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
{| class="wikitable sortable"
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|''MYB''; gene fusion or amplification
|Cell cycle (MYC and NOTCH signaling), DNA replication, DNA repair
|Promotes cellular proliferation
|-
|''MYBL1''; gene fusion
|Cell cycle (MYC and NOTCH signaling), DNA replication, DNA repair
|Promotes cellular proliferation
|-
|''NOTCH1'', ''NOTCH2'', ''NOTCH3''
|NOTCH signaling
|Promotes cellular proliferation
|}
A study of adenoid cystic carcinoma of salivary glands by Drier and others delineates the mechanism of ''MYB'' gene pathway upregulation via rearrangements that increase MYB expression. ''MYB'' rearrangements typically juxtapose ''MYB'' with strong enhancers in regions downstream of ''NFIB, TGFBR3'' and ''RAD51B.'' Gene fusions most often occur on the 3' side of ''MYB'', a subset of gene fusions occur on the 5' side, and all serve to bring the ''MYB'' gene locus close to strong enhancer elements, thus upregulating MYB expression. The authors note that TP63 signaling is active in the myoepithelial component of low grade adenoid cystic carcinomas, while Notch signaling is active in luminal epithelial components. Furthermore, the authors suggest that Notch pathway mutations may underlie the switch to solid histology and the more aggressive clinical course of these tumors.<ref>{{Cite journal|last=Drier|first=Yotam|last2=Cotton|first2=Matthew J.|last3=Williamson|first3=Kaylyn E.|last4=Gillespie|first4=Shawn M.|last5=Ryan|first5=Russell J. H.|last6=Kluk|first6=Michael J.|last7=Carey|first7=Christopher D.|last8=Rodig|first8=Scott J.|last9=Sholl|first9=Lynette M.|date=2016-03|title=An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/26829750|journal=Nature Genetics|volume=48|issue=3|pages=265–272|doi=10.1038/ng.3502|issn=1546-1718|pmc=4767593|pmid=26829750}}</ref>


==Genetic Diagnostic Testing Methods==
Put your text here
 
==Diagnostic Testing Methods==
 
Put your text here
 
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==


FISH for MYB rearrangement; RT-PCR for MYB-NFIB fusion transcript; RNA-based sequencing (whole transcriptome or targeted)
Put your text here
[[File:MYB FISH break-apart probe.png|none|thumb|FISH with a break-apart probe targeting the 5' (red) and 3' (green) ''MYB'' gene region. Juxtaposed red and green signals indicate alleles with an intact ''MYB'' gene locus, and split / separated red and green signals indicate alleles with ''MYB'' rearrangement. The separation in this case is small, suggesting an inversion (i.e., intrachromosomal rearrangement).]]
<br />


==Familial Forms==
==Familial Forms==
<br />
==Additional Information==


<br />
Put your text here
 
==Other Information==
 
Put your text here


==Links==
==Links==


<br />
Put your links here
 
==References==
 
=== EXAMPLE Book ===
#Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
 
=== EXAMPLE Journal Article ===
#Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.


==Reference==
== Notes ==
<references />
==Notes==
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