Primary acinic cell carcinoma of the breast: a case report with long‐term follow‐up and review of the literature

Peintinger, F; Leibl, Sebastian; Reitsamer, Roland; Moinfar, Farid

doi:10.1111/j.1365-2559.2004.01957.x

Cited by 42 publications

(49 citation statements)

References 6 publications

(6 reference statements)

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“…The presence of poorly differentiated tumors adjacent to ACCs is not an uncommon finding in the breast [7,23] and it has also been reported in the context of ACCs of the salivary glands [54]. The non-ACC components of the mixed cases included in this study were all high-grade, highly proliferative triple-negative breast carcinomas (Figure 2 and Table 2).…”

Section: Discussionmentioning

confidence: 59%

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

Guerini-Rocco

Hodi

Piscuoglio

et al. 2015

The Journal of Pathology

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Acinic cell carcinoma (ACC) of the breast is a rare form of triple-negative (that is, estrogen receptor-negative, progesterone receptor-negative, HER2-negative) salivary gland-type tumor displaying serous acinar differentiation. Despite its triple-negative phenotype, breast ACCs are reported to have an indolent clinical behavior. 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 tumor and normal tissue from two pure and six mixed breast ACCs. Each tumor component of the mixed cases was microdissected separately. Tumor 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 analyzed, identical somatic mutations were found in the acinic and the high-grade non-acinic components in two out of four cases analyzed, 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.

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Section: Discussionmentioning

confidence: 59%

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

Guerini-Rocco

Hodi

Piscuoglio

et al. 2015

The Journal of Pathology

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“…Acinic cell carcinomas may however display a distinct architecture such as the hypernephroid clear cell pattern (12), and may show intra-tumor heterogeneity with well-differentiated tubular and less-differentiated solid areas (13). Immunophenotypically, microglandular adenoses/atypical microglandular adenoses and acinic cell carcinomas are characterized by strong expression of S100 protein (4–7, 9, 16) and most are of triple-negative immunophenotype (4, 6, 7, 9, 12, 13, 16). Differential diagnosis of microglandular adenoses/atypical microglandular adenoses and acinic cell carcinomas can be challenging (15, 16) and often relies on the identification of diffuse serous differentiation in acinic cell carcinomas (11, 16).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2017

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Acinic cell carcinoma is an indolent form of invasive breast cancer, whereas microglandular adenosis has been shown to be a neoplastic proliferation. Both entities display a triple-negative phenotype, and may give rise to and display somatic genomic alterations typical of high-grade triple-negative breast cancers. Here we report on a comparison of previously published data on eight carcinoma-associated microglandular adenosis and eight acinic cell carcinomas subjected to targeted massively parallel sequencing targeting all exons of 236 genes recurrently mutated in breast cancer and/or DNA repair-related. Somatic mutations, insertions/deletions and copy number alterations were detected using state-of-the-art bioinformatic algorithms. All cases were of triple-negative phenotype. A median of 4.5 (1–13) and 4.0 (1–7) non-synonymous somatic mutations per carcinoma-associated microglandular adenosis and acinic cell carcinoma were identified, respectively. TP53 was the sole highly recurrently mutated gene (75% in microglandular adenosis versus 88% in acinic cell carcinomas), and TP53 mutations were consistently coupled with loss of heterozygosity of the wild-type allele. Additional somatic mutations shared by both groups included those in BRCA1, PIK3CA and INPP4B. Recurrent (n=2) somatic mutations restricted to microglandular adenosis or acinic cell carcinomas included those affecting PTEN and MED12, or ERBB4, respectively. No significant differences in the repertoire of somatic mutations were detected between microglandular adenosis and acinic cell carcinomas, and between this group of lesions and 77 triple-negative carcinomas from The Cancer Genome Atlas. Microglandular adenosis and acinic cell carcinomas, however, were genetically distinct from estrogen receptor-positive and/or HER2-positive breast cancers from The Cancer Genome Atlas. Our findings support the contention that microglandular adenosis and acinic cell carcinoma are part of the same spectrum of lesions harboring frequent TP53 somatic mutations, and likely represent low-grade forms of triple-negative disease with no/minimal metastatic potential, of which a subset has the potential to progress to high-grade triple-negative breast cancer.

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“…The literature categorizes this tumor as a favorable one; however, even within a short follow-up period, systemic and local recurrences were recorded. Larger series are required for definite conclusions [49].…”

Section: Good Prognosis Er Negativementioning

confidence: 99%

Breast carcinoma—rare types: review of the literature

Yerushalmi¹,

Hayes

Gelmon³

2009

Annals of Oncology

124

100

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Invasive breast cancer is a heterogeneous disease in its presentation, pathological classification and clinical course. However, there are more than a dozen variants which are less common but still very well defined by the World Health Organization (WHO) classification. The rarity of many of these neoplasms does not allow large or randomized studies to define the optimal treatment. Many of the descriptions of these cancers are from case reports and small series. Our review brings updated information on 16 epithelial subtypes as classified by the WHO system with a very concise histopathology description and parameters helpful in the clinic. The aim of our review is to provide a tool for breast cancer caregivers which will enable a better understanding of the disease and its optimal approach to therapy. This may also stand as a clinical framework for a future understanding of these rarer breast cancers when gene analysis work is reported.

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Primary acinic cell carcinoma of the breast: a case report with long‐term follow‐up and review of the literature

Cited by 42 publications

References 6 publications

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

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

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

Breast carcinoma—rare types: review of the literature

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