Whole‐exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast

Beça, Francisco; Lee, Simon S K; Pareja, Fresia; Paula, Arnaud Da Cruz; Selenica, Pier; Ferrando, Lorenzo; Gularte‐Mérida, Rodrigo; Wen, Hannah Y.; Zhang, Hong; Guerini-Rocco, Elena; Rakha, Emad A.; Weigelt, Britta; Reis‐Filho, Jorge S.

doi:10.1111/his.13962

Cited by 18 publications

(20 citation statements)

References 23 publications

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“…No pathognomonic genetic alterations have been identified in three breast ACCs analysed by whole-exome sequencing. The alterations identified were similar to those seen in conventional TNBC of NST [ 39 ]. On the basis of the small series analysed, commonly occurring mutations affect the following genes: PIK3CA, KMT2D, ERBB4/ERBB3, NEB, BRCA1, MTOR, CTNNB1, INPP4B and FGFR2 [ 11 , 34 , 40 ].…”

Section: Acinic Cell Carcinoma (Acc) Of the Breastsupporting

confidence: 63%

Triple-Negative Breast Cancer Histological Subtypes with a Favourable Prognosis

Cserni

Quinn

Foschini

et al. 2021

Cancers

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Triple-negative breast cancers (TNBC), as a group of tumours, have a worse prognosis than stage-matched non-TNBC and lack the benefits of routinely available targeted therapy. However, TNBC is a heterogeneous group of neoplasms, which includes some special type carcinomas with a relatively indolent course. This review on behalf of the European Working Group for Breast Screening Pathology reviews the literature on the special histological types of BC that are reported to have a triple negative phenotype and indolent behaviour. These include adenoid cystic carcinoma of classical type, low-grade adenosquamous carcinoma, fibromatosis-like metaplastic carcinoma, low-grade mucoepidermoid carcinoma, secretory carcinoma, acinic cell carcinoma, and tall cell carcinoma with reversed polarity. The pathological and known molecular features as well as clinical data including treatment and prognosis of these special TNBC subtypes are summarised and it is concluded that many patients with these rare TNBC pure subtypes are unlikely to benefit from systemic chemotherapy. A consensus statement of the working group relating to the multidisciplinary approach and treatment of these rare tumour types concludes the review.

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Section: Acinic Cell Carcinoma (Acc) Of the Breastsupporting

confidence: 63%

Triple-Negative Breast Cancer Histological Subtypes with a Favourable Prognosis

Cserni

Quinn

Foschini

et al. 2021

Cancers

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“…Salivary gland acinic cell carcinomas are characterized by the t(4;9)(q13; q31) translocation, which results in a rearrangement involving the nuclear transcription factor NR4A3 (ref. 15 ), whereas breast acinic cell carcinomas seem not to harbor a pathognomonic genetic alteration and consistently display complex genomes and TP53 mutations 16,17 . Here we sought to determine whether breast PAs and MECs arising in the breast would be underpinned by fusion genes, in particular those reported in their salivary gland counterparts.…”

Section: Introductionmentioning

confidence: 99%

Pleomorphic adenomas and mucoepidermoid carcinomas of the breast are underpinned by fusion genes

et al. 2020

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Primary pleomorphic adenomas (PAs) and mucoepidermoid carcinomas (MECs) of the breast are vanishingly rare. Here we sought to determine whether breast PAs and MECs would be underpinned by the fusion genes reported to occur in their salivary gland counterparts. Our study included three breast PAs and one breast MEC, which were subjected to RNA sequencing (PAs, n = 2; MEC, n = 1) or to Archer FusionPlex sequencing (PA, n = 1). Our analyses revealed the presence of the HMGA2-WIF1 fusion gene in breast PA3, the CTNNB1-PLAG1 fusion gene in breast PA2, and the CRTC1-MAML2 fusion gene in the breast MEC analyzed (1/1). No oncogenic fusion genes were detected in breast PA1, and no additional oncogenic fusion genes were detected in the cases studied. The presence of the fusion genes identified was validated by fluorescence in situ hybridization (n = 1), reverse transcription-PCR (n = 1), or by both methods (n = 1). Taken together, our findings indicate that PAs and MECs arising in the breast resemble their salivary gland counterparts not only phenotypically but also at the genetic level. Furthermore, our data suggest that the molecular analysis of breast PAs and MECs might constitute a useful tool to aid in their differential diagnosis.

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“…It seems that the presence of the poorly differentiated component plays an important role during the disease progression. Recent research had showed that the tumors had somatic genetic alterations similar to those of common forms of TNBC and may display HR deficiency or microsatellite instability, without any pathognomonic genetic alterations 20 . These findings provide further insights to understand why AcCCs may evolve into or parallel to high‐grade TNBC 20 …”

Section: Discussionmentioning

confidence: 86%

Two cases of mammary acinic cell carcinomas with microglandular structures mimicking microglandular adenosis

Fang

Niu

Wang

et al. 2022

Pathology International

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Acinic cell carcinoma (AcCC) of breast is a rare subtype of triple-negative breast carcinoma demonstrating a wide morphologic spectrum. In this study, we perform a detailed morphologic and immunohistochemical description of two cases of the rare entity and review the published relative literature. Histologically, the two cases both showed predominantly microglandular and solid structures overlapping with the histological features of microglandular adenosis (MGA), and one case presented spindle cell metaplastic carcinoma with chondromyxoid matrix as a minor morphologic pattern. In two cases, most of the cancer cells were positive for lysozyme and antitrypsin strongly and extensively, but negative for estrogen receptor (ER), progesterone receptor (PR), androgen receptors (AR) and human epidermal growth factor receptor 2 (HER2). The true relationship between breast AcCC and MGA or carcinoma arising in MGA(CAMGA) may remain unclear; re-excision is advised when the MGA-like content extends to the surgical margins in the setting of breast AcCC. More cases and further molecular investigations are required to elucidate the true histogenesis and give the patients appropriate treatment.

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Whole‐exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast

Cited by 18 publications

References 23 publications

Triple-Negative Breast Cancer Histological Subtypes with a Favourable Prognosis

Triple-Negative Breast Cancer Histological Subtypes with a Favourable Prognosis

Pleomorphic adenomas and mucoepidermoid carcinomas of the breast are underpinned by fusion genes

Two cases of mammary acinic cell carcinomas with microglandular structures mimicking microglandular adenosis

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