Secretory carcinoma

From Compendium of Cancer Genome Aberrations
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Breast Tumours (WHO Classification, 5th ed.)

Primary Author(s)*

Hui Chen, MD, PhD, The University of Texas MD Anderson Cancer Center, Houston, TX, 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 Secretory carcinoma
Subtype(s) N/A

WHO Essential and Desirable Genetic Diagnostic Criteria

WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)* ETV6::NTRK3 fusion
Other Classification

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

Related Terminology

Acceptable
Not Recommended

Gene Rearrangements

Gene fusion diagram showing the canonical breakpoints in exon 5 of ETV6 (NM_001987) and exon 15 of NTRK3 (NM_001012338). Alternate fusion breakpoints include exon 4 of ETV6 and exon 14 of NTRK3.


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
NTRK3 ETV6::NTRK3[1] Fusion results in constitutive activation of NTRK3 tyrosine kinase t(12;15)(p13;q25) Common D, P, T The ETV6::NTRK3 fusion is diagnostic of secretory carcinoma in the appropriate morphologic and clinical context.[2][3][4] This fusion is responsive to TRK inhibitor therapies such as larotrectinib abd entrectinib.


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


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

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


Gene; Genetic Alteration Pathway Pathophysiologic Outcome
NTRK3; Activating fusion with 5' partner ETV6 MAPK/PI3K/AKT signaling Increased cell growth and proliferation


Genetic Diagnostic Testing Methods

FISH, RT-PCR, next generation sequencing

Familial Forms

None

Additional Information


Links

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


Notes

Prior Author(s):

References

  1. Tognon, Cristina; et al. (2002-11). "Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma". Cancer Cell. 2 (5): 367–376. doi:10.1016/s1535-6108(02)00180-0. ISSN 1535-6108. PMID 12450792. Check date values in: |date= (help)
  2. Arce, C.; et al. (2005-06-17). "Secretory carcinoma of the breast containing the ETV6-NTRK3 fusion gene in a male: case report and review of the literature". World Journal of Surgical Oncology. 3: 35. doi:10.1186/1477-7819-3-35. ISSN 1477-7819. PMC 1184104. PMID 15963235.
  3. Jacob, John Doromal; et al. (2016-06). "Rare breast cancer: 246 invasive secretory carcinomas from the National Cancer Data Base". Journal of Surgical Oncology. 113 (7): 721–725. doi:10.1002/jso.24241. ISSN 1096-9098. PMID 27040042. Check date values in: |date= (help)
  4. Li, Dali; et al. (2012-04). "Secretory breast carcinoma: a clinicopathological and immunophenotypic study of 15 cases with a review of the literature". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 25 (4): 567–575. doi:10.1038/modpathol.2011.190. ISSN 1530-0285. PMID 22157932. Check date values in: |date= (help)

*Citation of this Page: “Secretory carcinoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 04/16/2025, https://ccga.io/index.php/BRST5:Secretory carcinoma.