BRST5:Adenoid cystic carcinoma

Breast 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)*

Jun Liao, PhD, Columbia University Irving Medical Center, NY, USA

Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA

WHO Classification of Disease

Structure	Disease
Book	Breast Tumours (5th ed.)
Category	Epithelial tumours of the breast
Family	Rare and salivary gland-type tumours: Introduction
Type	Adenoid cystic carcinoma
Subtype(s)	N/A

WHO Essential and Desirable Genetic Diagnostic Criteria

(Instructions: The table will have the diagnostic criteria from the WHO book autocompleted; remove any non-genetics related criteria. If applicable, add text about other classification systems that define this entity and specify how the genetics-related criteria differ.)

WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)*
Other Classification

*Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours.

Related Terminology

(Instructions: The table will have the related terminology from the WHO autocompleted.)

Acceptable
Not Recommended

Gene Rearrangements

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
MYB	MYB::NFIB	Fusion transcripts most commonly join exon 8 or exon 14 of MYB with exon 9 of NFIB and result in overexpression of MYB. Fusions translocate super-enhancers in the partner gene to MYB. Fusion transcripts lack MYB exon 15 including the 3' UTR, which contains target sites for microRNAs that negatively regulate MYB.	t(6;9)(q23.3;p23)	Common	D	Yes (WHO)	Some breast cancers express more than one MYB::NFIB transcript or splice variant
MYBL1	MYBL1::NFIB	Fusions most commonly join exon 8 or exon 14 of MYBL1 with exon 11 of NFIB.	t(8;9)(q13.1;p23)	Rare	D	Yes (WHO)

Individual Region Genomic Gain/Loss/LOH

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
6	Amp	6q23.3	MYB	D	Yes (WHO)	Documented molecular pathogenesis in rare case lacking translocations of MYB or MYBL1
12	Loss	12q12-q14.1	Unknown	None	No
17	Gain	17q21-q25.1	Unknown	None	No

Characteristic Chromosomal or Other Global Mutational Patterns

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

Gene Mutations (SNV/INDEL)

Recurrent mutations are shown in the table below. Adenoid cystic carcinoma does not share the typical mutation profile of most triple negative breast cancers and generally lacks mutations in TP53, PIK3CA, and BRCA1. Progression to high-grade triple-negative breast cancer has been described, with additional sub-clonal mutations in genes including MYB.

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
MYB	Activating mutations	Oncogene	Recurrent
BRAF	Activating mutations	Oncogene	Recurrent
NOTCH1	Activating mutations	Oncogene	Rare			Enriched in solid-type adenoid cystic carcinomas of the breast
KMT2C	Activating mutations	Oncogene	Rare			Enriched in solid-type adenoid cystic carcinomas of the breast
CREBBP	Activating mutations	Oncogene	Rare			Enriched in solid-type adenoid cystic carcinomas of the breast
FBXW7	Inactivating mutations	Tumor Suppressor Gene	Rare
SMARCA5	Inactivating mutations	Tumor Suppressor Gene	Rare
SF3B1	Activating mutations	Other	Rare
FGFR2	Activating mutations	Oncogene	Rare
MTOR	Activating mutations	Oncogene	Rare

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.

Genes and Main Pathways Involved

Gene; Genetic Alteration	Pathway	Pathophysiologic Outcome
MYB or MYBL1; activating fusions most common; rarely other sequence or structural alterations or amplification	Transcription factor	Increased cell growth and proliferation

Genetic Diagnostic Testing Methods

Next generation sequencing for fusion detection and gene mutation profiling as applicable. Fluorescence in situ hybridization (FISH) for MYB rearrangement, typically with a "break-apart" probe design using differentially labeled 5' and 3' flanking probes to detect rearrangements of the MYB gene locus. Immunohistochemistry for MYB expression was more sensitive and specific than FISH in one study but was demonstrated to be less specific with MYB staining also present in adenomyoepithelioma of the breast in another study.

Familial Forms

None

Additional Information

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Links

https://www.pathologyoutlines.com/topic/breastmalignantadenoidcystic.html

Notes

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Prior Author(s):

References

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*Citation of this Page: “Adenoid cystic carcinoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 03/27/2025, https://ccga.io/index.php/BRST5:Adenoid cystic carcinoma.