Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature

Ghilli, Matteo; Mariniello, Maria Donatella; Scatena, Cristian; Dosa, Laura; Traficante, Giovanna; Tamburini, Angela; Caporalini, Chiara; Buccoliero, Annamaria; Facchini, Flavio; Colizzi, Livio; Li, A. Quattrini; Landucci, Elisabetta; Manca, G; Naccarato, Antonio Giuseppe; Caramella, Davide; Favre, C.; Roncella, Manuela

doi:10.1007/s10549-018-4772-4

Cited by 11 publications

(18 citation statements)

References 74 publications

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“…The ETV6-NTRK3 fusion gene has been observed in 92% of SBCs (11) and has not been observed in other types of breast cancer (55,56). Consequently, ETV6-NTRK3 fusion gene tests have become important tools in SBC diagnosis, including fluorescence in situ hybridization (FISH) using an ETV6 break-apart probe and nextgeneration sequencing (NGS) technology of DNA or RNA.…”

Section: Genetic Characteristicsmentioning

confidence: 99%

Advancement of secretory breast carcinoma: a narrative review

Min¹,

Zhu²,

Liu³

et al. 2022

Ann Transl Med

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Background and Objective: Secretory breast carcinoma (SBC) is a rare breast malignancy. Most available studies on SBC are case reports or small case series, and the few large-sample studies available lack critical information due to database limitations. To improve the understanding of SBC and provide a reference for clinical practice, we systematically reviewed the demographic, clinical, pathologic, and genetic characteristics of SBC, as well as its treatment and prognosis.Methods: We conducted a PubMed search with the keywords "secretory breast carcinoma" or "juvenile breast carcinoma". Relevant English-language publications published from January 1966 to February 2022 were screened manually at 3 levels-title, abstract, and full text-to identify the articles that presented the demographic, clinical, pathologic, and genetic characteristics of SBC, as well as its treatment and prognosis.Key Content and Findings: SBC lacks specific clinical manifestations and has typical pathological and molecular characteristics, including intracellular and extracellular eosinophilic secretions, immune spectrum similar to hormone receptor-positive tumors, and the ETV6-NTRK3 fusion gene. Surgery remains the primary treatment for SBC. Postoperative radiotherapy is recommended by most researchers for adult SBC but not for pediatric patients. The evidence of chemotherapy and endocrine therapy is insufficient, and targeted therapy of the ETV6-NTRK3 fusion gene shows a good response. Most patients with SBC have a good prognosis except for a few patients who experience distant metastases. Future studies will be focused on the molecular characteristics of those patients with SBC who have a poor prognosis. Conclusions:The development of histopathology and molecular genetics has promoted the progress of the clinical diagnosis of SBC. The purpose of this review is to serve as a guide for the better clinical treatment of SBC, particularly in the areas of disease identification and prognosis classification for patients.

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Section: Genetic Characteristicsmentioning

confidence: 99%

Advancement of secretory breast carcinoma: a narrative review

Min¹,

Zhu²,

Liu³

et al. 2022

Ann Transl Med

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“…The average age at presentation is 53 years (3–87 years). It mainly occurs in females [ 11 ] but has also been reported in males, summarized by Ghilli et al [ 127 ], in whom it may exhibit a more aggressive clinical course [ 128 ]. A similar tumour type may be seen in salivary glands (previously referred to as mammary analogue secretory carcinoma, MASC) and occasionally in the thyroid gland, skin and respiratory tract [ 129 ].…”

Section: Secretory Carcinoma (Sc)mentioning

confidence: 99%

“…Since the description of the initial series by McDivitt and Stewart, several hundred SCs have been reported, mostly as single case reports, small single institutional series and two larger database analyses [ 138 , 139 ]. These are summarized in Supplementary Table S6 [ 124 , 125 , 127 , 129 , 130 , 131 , 132 , 138 , 139 , 140 , 141 , 142 , 143 , 144 , 145 , 146 , 147 , 148 ]. In 2018, Garlick reviewed 89 cases previously published and these are included in the table on the basis of his review [ 144 ].…”

Section: Secretory Carcinoma (Sc)mentioning

confidence: 99%

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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“…As presented in a study by Ghilli [ 25 ], secretory breast cancer (SBC) is one of the rarest forms of breast cancer (BC), accounting for the vast majority of BC in children. Nonetheless, it generates a great deal of interest due to its peculiar morphology and genetic characteristics.…”

Section: Resultsmentioning

confidence: 99%

An Update on the General Features of Breast Cancer in Male Patients—A Literature Review

et al. 2022

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Male breast cancers are uncommon, as men account for less than 1 percent of all breast carcinomas. Among the predisposing risk factors for male breast cancer, the following appear to be significant: (a) breast/chest radiation exposure, (b) estrogen use, diseases associated with hyper-estrogenism, such as cirrhosis or Klinefelter syndrome, and (c) family health history. Furthermore, there are clear familial tendencies, with a higher incidence among men who have a large number of female relatives with breast cancer and (d) major inheritance susceptibility. Moreover, in families with BRCA mutations, there is an increased risk of male breast cancer, although the risk appears to be greater with inherited BRCA2 mutations than with inherited BRCA1 mutations. Due to diagnostic delays, male breast cancer is more likely to present at an advanced stage. A core biopsy or a fine needle aspiration must be performed to confirm suspicious findings. Infiltrating ductal cancer is the most prevalent form of male breast cancer, while invasive lobular carcinoma is extremely uncommon. Male breast cancer is almost always positive for hormone receptors. A worse prognosis is associated with a more advanced stage at diagnosis for men with breast cancer. Randomized controlled trials which recruit both female and male patients should be developed in order to gain more consistent data on the optimal clinical approach.

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Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature

Abstract: SBC is a rare type of BC, characterized by triple-negative features with an unexpectedly good prognosis. More data are needed to fully understand the behavior of this cancer and genomic profiling could be helpful in improving its diagnosis and management.

Cited by 11 publications

References 74 publications

Advancement of secretory breast carcinoma: a narrative review

Advancement of secretory breast carcinoma: a narrative review

Triple-Negative Breast Cancer Histological Subtypes with a Favourable Prognosis

An Update on the General Features of Breast Cancer in Male Patients—A Literature Review

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