BRST5:Acinic cell carcinoma: Difference between revisions
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[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]] | [[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]] | ||
<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).'' </span> | |||
==Primary Author(s)*== | |||
Katherine Geiersbach, MD | Katherine Geiersbach, MD | ||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
Latest revision as of 13:51, 21 April 2026
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).
Primary Author(s)*
Katherine Geiersbach, MD
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 | Acinic cell carcinoma |
| Subtype(s) | N/A |
Related Terminology
| Acceptable | N/A |
| Not Recommended | N/A |
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 |
|---|---|---|---|---|---|---|---|
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 |
|---|---|---|---|---|---|---|
Characteristic Chromosomal or Other Global Mutational Patterns
Often high complexity genomic copy number profile, similar to other triple negative breast cancers, in contrast to other rare salivary gland type neoplasia of the breast.[1][2]
| 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)
| 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 |
|---|---|---|---|---|---|---|
| TP53 | SNV, deletion | Tumor suppressor gene | Common | P | Similar to other triple negative breast cancers[1][3][4][5] | |
| PIK3CA | SNV | Oncogene | Recurrent |
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
Genes and Main Pathways Involved
Put your text here and fill in the table (Instructions: Please include references throughout the table. Do not delete the table.)
| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
| TP53 | DNA damage response | DNA damage, genomic instability |
| PIK3CA | PI3K/Akt/mTOR pathway | Increased cell growth and proliferation |
Genetic Diagnostic Testing Methods
Familial Forms
Additional Information
Links
https://www.pathologyoutlines.com/topic/breastmalignantaciniccellcarcinoma.html
References
- ↑ 1.0 1.1 Geyer, Felipe C.; Pareja, Fresia; Weigelt, Britta; Rakha, Emad; Ellis, Ian O.; Schnitt, Stuart J.; Reis-Filho, Jorge S. (2017-10). "The Spectrum of Triple-Negative Breast Disease: High- and Low-Grade Lesions". The American Journal of Pathology. 187 (10): 2139–2151. doi:10.1016/j.ajpath.2017.03.016. ISSN 1525-2191. PMC 5809519. PMID 28736315.
{{cite journal}}: Check date values in:|date=(help) - ↑ Guerini-Rocco, Elena; Hodi, Zsolt; Piscuoglio, Salvatore; Ng, Charlotte K. Y.; Rakha, Emad A.; Schultheis, Anne M.; Marchiò, Caterina; da Cruz Paula, Arnaud; De Filippo, Maria R. (2015-10). "The repertoire of somatic genetic alterations of acinic cell carcinomas of the breast: an exploratory, hypothesis-generating study". The Journal of Pathology. 237 (2): 166–178. doi:10.1002/path.4566. ISSN 1096-9896. PMC 5011405. PMID 26011570.
{{cite journal}}: Check date values in:|date=(help) - ↑ Beca, Francisco; Lee, Simon S. K.; Pareja, Fresia; Da Cruz Paula, Arnaud; Selenica, Pier; Ferrando, Lorenzo; Gularte-Mérida, Rodrigo; Wen, Hannah Y.; Zhang, Hong (2019-12). "Whole-exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast". Histopathology. 75 (6): 931–937. doi:10.1111/his.13962. ISSN 1365-2559. PMC 6878125. PMID 31361912.
{{cite journal}}: Check date values in:|date=(help) - ↑ Geyer, Felipe C.; Berman, Samuel H.; Marchiò, Caterina; Burke, Kathleen A.; Guerini-Rocco, Elena; Piscuoglio, Salvatore; Ng, Charlotte Ky; Pareja, Fresia; Wen, Hannah Y. (2017-01). "Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 30 (1): 69–84. doi:10.1038/modpathol.2016.161. ISSN 1530-0285. PMC 5221420. PMID 27713419.
{{cite journal}}: Check date values in:|date=(help) - ↑ Ajkunic, Azra; Skenderi, Faruk; Shaker, Nada; Akhtar, Saghir; Lamovec, Janez; Gatalica, Zoran; Vranic, Semir (2022-12). "Acinic cell carcinoma of the breast: A comprehensive review". Breast (Edinburgh, Scotland). 66: 208–216. doi:10.1016/j.breast.2022.10.012. ISSN 1532-3080. PMC 9636467. PMID 36332545.
{{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: “Acinic cell carcinoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 04/21/2026, https://ccga.io/index.php/BRST5:Acinic cell carcinoma.