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The repertoire of somatic genetic alterations of acinic cell carcinomas of the breast: an exploratory, hypothesis-generating study.

作者信息

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, Martelotto Luciano G, De Mattos-Arruda Leticia, Edelweiss Marcia, Jungbluth Achim A, Fusco Nicola, Norton Larry, Weigelt Britta, Ellis Ian O, Reis-Filho Jorge S

机构信息

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

School of Pathology, University of Milan, Italy.

出版信息

J Pathol. 2015 Oct;237(2):166-78. doi: 10.1002/path.4566. Epub 2015 Jul 29.


DOI:10.1002/path.4566
PMID:26011570
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5011405/
Abstract

Acinic cell carcinoma (ACC) of the breast is a rare form of triple-negative (that is, oestrogen receptor-negative, progesterone receptor-negative, HER2-negative) salivary gland-type tumour displaying serous acinar differentiation. Despite its triple-negative phenotype, breast ACCs are reported to have an indolent clinical behaviour. Here, we sought to define whether ACCs have a mutational repertoire distinct from that of other triple-negative breast cancers (TNBCs). DNA was extracted from microdissected formalin-fixed, paraffin-embedded sections of tumour and normal tissue from two pure and six mixed breast ACCs. Each tumour component of the mixed cases was microdissected separately. Tumour and normal samples were subjected to targeted capture massively parallel sequencing targeting all exons of 254 genes, including genes most frequently mutated in breast cancer and related to DNA repair. Selected somatic mutations were validated by targeted amplicon resequencing and Sanger sequencing. Akin to other forms of TNBC, the most frequently mutated gene found in breast ACCs was TP53 (one pure and six mixed cases). Additional somatic mutations affecting breast cancer-related genes found in ACCs included PIK3CA, MTOR, CTNNB1, BRCA1, ERBB4, ERBB3, INPP4B, and FGFR2. Copy number alteration analysis revealed complex patterns of gains and losses similar to those of common forms of TNBCs. Of the mixed cases analysed, identical somatic mutations were found in the acinic and the high-grade non-acinic components in two out of four cases analysed, providing evidence of their clonal relatedness. In conclusion, breast ACCs display the hallmark somatic genetic alterations found in high-grade forms of TNBC, including complex patterns of gene copy number alterations and recurrent TP53 mutations. Furthermore, we provide circumstantial genetic evidence to suggest that ACCs may constitute the substrate for the development of more aggressive forms of triple-negative disease.

摘要

相似文献

[1]
The repertoire of somatic genetic alterations of acinic cell carcinomas of the breast: an exploratory, hypothesis-generating study.

J Pathol. 2015-10

[2]
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[3]
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[4]
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[5]
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[7]
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[9]
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[10]
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引用本文的文献

[1]
The inner nuclear membrane protein, Banf1, has an essential role in triple negative breast cancer cell proliferation and survival.

Sci Rep. 2025-7-15

[2]
Breast acinic cell carcinoma with weak progesterone receptor expression: a case report and literature review.

Front Oncol. 2025-2-20

[3]
New insights into acinic cell carcinoma of the breast: clinicopathology, origin of histology, molecular features, prognosis, and treatment.

Front Oncol. 2024-9-2

[4]
Elucidating the nature of acinic cell carcinoma of the breast with high-grade morphology: evidence from case report.

Diagn Pathol. 2024-7-24

[5]
Clinicopathological, immunohistochemical and molecular features of acinic cell carcinoma of the breast.

Oncol Lett. 2024-1-18

[6]
Acinic Cell Carcinoma of the Breast: A Case Report and Review of Literature.

Cureus. 2024-1-1

[7]
NR4A3 Expression Is Consistently Absent in Acinic Cell Carcinomas of the Breast: A Potential Nosologic Shift.

Mod Pathol. 2023-6

[8]
High grade acinic cell carcinoma of the breast with clear cytoplasm mimics clear cell carcinoma in a BRCA1 mutation carrier: a case report and review of the literature on the molecular analysis.

Histol Histopathol. 2023-1

[9]
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Oncogene. 2022-3

[10]
Pathogenesis of Triple-Negative Breast Cancer.

Annu Rev Pathol. 2022-1-24

本文引用的文献

[1]
Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology.

J Mol Diagn. 2015-5

[2]
Are acinic cell carcinomas of the breast and salivary glands distinct diseases?

Histopathology. 2015-10

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biol. 2014-10-28

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Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.

Nat Genet. 2014-11

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SubcloneSeeker: a computational framework for reconstructing tumor clone structure for cancer variant interpretation and prioritization.

Genome Biol. 2014-8-26

[6]
Capturing intra-tumor genetic heterogeneity by de novo mutation profiling of circulating cell-free tumor DNA: a proof-of-principle.

Ann Oncol. 2014-9

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Acinic cell carcinoma of the breast: review of the literature.

Int J Surg. 2014-5-22

[8]
Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast.

J Pathol. 2014-2-5

[9]
Discovery and saturation analysis of cancer genes across 21 tumour types.

Nature. 2014-1-5

[10]
Tackling the diversity of triple-negative breast cancer.

Clin Cancer Res. 2013-12-1

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