A case report of primary small cell carcinoma of the breast and review of the literature

Ge, Qi; Lv, Ning; Cao, Yun; Wang, Xi; Tang, Jun; Xie, Ze Ming; Xiao, Xiang; Liu, Peng; Xie, Xiao; Wei, Wei Dong

doi:10.5732/cjc.012.10012

Cited by 6 publications

(10 citation statements)

References 40 publications

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“…Cases reports of small cell carcinoma of the breast suggest that tumor cells are often positive for neuroendocrine differentiation markers such as synaptophysin and neuron-specific enolase (NSE) [12][13][14]. The immunohistochemistry positivity for ER, PR, or TP53 varied among different case reports [4,5,13,14]. However, the majority of small cell carcinoma of the breast cases was HER2 negative [4,5,14].…”

Section: Discussionmentioning

confidence: 97%

“…Immunohistochemical staining was the most commonly used genetic analysis of small cell carcinoma of the breast in case reports. Cases reports of small cell carcinoma of the breast suggest that tumor cells are often positive for neuroendocrine differentiation markers such as synaptophysin and neuron-specific enolase (NSE) [12][13][14]. The immunohistochemistry positivity for ER, PR, or TP53 varied among different case reports [4,5,13,14].…”

Section: Discussionmentioning

confidence: 98%

“…We utilized immunohistochemistry staining, in situ hybridization, next generation sequencing and Sanger sequencing to further characterize small cell carcinoma of the breast and contrast it to small cell carcinoma of the lung and described an increased frequency of mutations in PIK3CA limited to small cell carcinoma of the breast. Small cell carcinoma of the breast has been shown to share the morphologic and histologic features of small cell carcinoma of the lung [12][13][14][15]. While small cell carcinoma of the breast and small cell carcinoma of the lung may be considered similar when considering treatment options, there are important differences that need to be emphasized.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, no targeted treatment options could be explored for HER2 or cMET proteins due to lack of expression. Small cell carcinoma of the breast has been shown to share similar clinical features and immunoreactivity with other breast cancers [12][13][14][15]. At least eighteen different histological breast cancer types are described by the WHO including neuroendocrine.…”

Section: Discussionmentioning

confidence: 99%

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Genomic landscape of small cell carcinoma of the breast contrasted to small cell carcinoma of the lung

McCullar

Pandey

Yaghmour

et al. 2016

Breast Cancer Res Treat

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Small cell carcinoma of the breast is a rare, aggressive form of breast cancer that is associated with extremely poor outcomes [1]. In an effort to identify possible targets for treatment, we utilized comprehensive genomic profiling in small cell carcinoma of the breast. Under an IRB approved protocol, we identified patients with small cell carcinoma of the breast and small cell carcinoma of the lung profiled by Caris Life Sciences between 2007 and 2015. Tumors were assessed with up to 25 immunohistochemical stains, in situ hybridization of cMET, EGFR, HER2, PIK3CA, and TOP2A, and next generation sequencing as well as Sanger sequencing of 47 genes. 19 patients with small cell carcinoma of the breast were identified, median age was 58 years (range 37-79) and 42 % had metastatic disease at presentation; for comparison, 58 patients with small cell carcinoma of the lung were identified (66 [36-86], 65 % metastatic). By immunohistochemistry, 31 % of small cell carcinoma of the breast patients expressed ER, 13 % expressed PR, and 16 % expressed AR; small cell carcinoma of the lung patients expressed ER 0 %, PR 2 %, and AR 6 %. Small cell carcinoma of the breast and small cell carcinoma of the lung patients had similar patterns of other immunohistochemical expression (0 v 0 % PDL1, 50 v 42 % PD1, and 77 v 95 % TOP2A, respectively). All small carcinoma of the breast and small cell carcinoma of the lung patients were negative for HER2 and cMET amplification by in situ hybridization. Next generation sequencing revealed TP53 mutations in 75 % of patients both with small cell carcinoma of the breast and small cell carcinoma of the lung and PIK3CA mutations in 33 % of small cell carcinoma of the breast patients but no small cell carcinoma of the lung patients (Fisher's exact test p = 0.005, OR 0.02 [0.00-0.52]). No other mutations were found in small cell carcinoma of the breast patients and no other mutation occurred in over 10 % of small cell carcinoma of the lung patients except RB1 in 19 % (p = 0.31). Small cell carcinoma of the breast is an aggressive tumor with few therapeutic options. Molecular profiling suggests many similarities between small cell carcinoma of the breast and small cell carcinoma of the lung with the exception an increased incidence of PIK3CA mutations in small cell carcinoma of the breast, which may have therapeutic implications.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Genomic landscape of small cell carcinoma of the breast contrasted to small cell carcinoma of the lung

McCullar

Pandey

Yaghmour

et al. 2016

Breast Cancer Res Treat

View full text Add to dashboard Cite

show abstract

“…Though uncommon, cases of extrapulmonary small cell carcinoma have been documented in other organ systems, including the cervix, urinary bladder, prostate, and gastrointestinal tract [6]. Small cell carcinoma in the breast is exceptionally rare; a comprehensive literature review tallies fewer than 40 case reports [7][8][9][10]. Less than 2% of all malignancies appearing in the breast are identified as metastases from distant primary sites [11].…”

Section: Discussionmentioning

confidence: 99%

Metastatic Neuroendocrine Carcinoma Presenting with Bilateral Axillary Lymphadenopathy

Maciolek

Qiu

et al. 2020

Cureus

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Metastatic, high-grade neuroendocrine carcinomas are frequently associated with small cell lung cancer (SCLC), classically spreading to the liver, bone, lung, and brain. Though SCLCs most commonly present as large masses interfering with the airway, this malignancy may appear initially as a benign mass at a distant site. This case profiles a 64-year-old woman who presented with bilateral breast masses that were identified as metastases of poorly differentiated, high-grade neuroendocrine SCLC through mammogram, ultrasound, CT, and core biopsy. Accurately identifying etiology of a breast malignancy is critical to therapeutic planning, as disparate treatment guidelines and disease courses exist for primary breast cancer and SCLC.

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Primary small cell carcinoma of the breast: a case report

et al. 2017

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BackgroundNeuroendocrine breast cancer is a rare entity that was defined in 2003 by the World Health Organization as a separate breast cancer subtype. The diagnosis of neuroendocrine breast cancer requires the presence of neuroendocrine features in at least 50% of malignant cells, the exclusion of non-mammary primary tumors, as well as the presence of an in situ component in breast histology. The treatment and prognosis of neuroendocrine breast cancer are still not well established. Small cell carcinoma of the breast is a subtype of neuroendocrine cancer, resembling small cell carcinoma of the lung. It has a very poor prognosis and warrants treatment with platinum-based chemotherapy.Case presentationWe herein report the case of a 47-year-old white woman with a left breast mass that was found to be an early-stage, high-grade small cell carcinoma of the breast. Positron emission tomography-computed tomography imaging excluded any other primary disease. Our patient underwent a left total mastectomy with sentinel lymph node biopsy and received cisplatin-based adjuvant chemotherapy. Our patient remains free of disease to date.ConclusionsThis case report sheds light on a rarely described disease and provides a comprehensive approach to diagnosis and management. Neuroendocrine carcinoma of the breast is a well-defined histologic subtype of breast cancer. Small cell carcinoma of the breast is a rare subtype of neuroendocrine breast cancer. Due to the rarity of this entity, prognosis has still not been well established, and treatment has not been standardized, cisplatin-based treatment has been used in this case similar to small cell carcinoma of the lung.

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A case report of primary small cell carcinoma of the breast and review of the literature

Cited by 6 publications

References 40 publications

Genomic landscape of small cell carcinoma of the breast contrasted to small cell carcinoma of the lung

Genomic landscape of small cell carcinoma of the breast contrasted to small cell carcinoma of the lung

Metastatic Neuroendocrine Carcinoma Presenting with Bilateral Axillary Lymphadenopathy

Primary small cell carcinoma of the breast: a case report

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