High grade neuroendocrine carcinoma of the breast, first line and maintenance immunotherapy

Symeonidis, David; Papageorgiou, Georgios; Liatsos, Alexandros; Trihia, Helen; Lianos, Evangelos; Kosmas, Christos

doi:10.1097/cad.0000000000001126

Cited by 2 publications

(2 citation statements)

References 17 publications

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“…Options for treatment include chemotherapy according to neuroendocrine malignancy guidelines ( 60 ). There are case reports of response with immunotherapy ( 61 , 62 ); however, there is no well-described correlation with conventional predictors of response to immunotherapy such as PD-L1 expression, high tumor mutational burden, and microsatellite instability. There are reports of response with peptide receptor radionuclide therapy in patients with metastatic neuroendocrine breast carcinoma and overexpression of somatostatin receptors as evidenced by nuclear scintigraphy ( 63 , 64 ).…”

Section: Discussionmentioning

confidence: 99%

Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation

et al. 2023

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BackgroundThe epidermal growth factor receptor (EGFR) p.Thr790Met (T790M) mutation was discovered as a resistance mechanism in patients with lung cancer treated with first- and second-generation tyrosine kinase inhibitors. Further studies revealed the EGFR T790M mutation in treatment-naive non-small cell lung carcinoma (NSCLC) and as a rare germline mutation strongly associated with NSCLC. Somatic EGFR T790M mutations have been reported in a limited population of patients with triple-negative breast cancer. There are no previous reports of a germline EGFR T790M mutation found in a patient with breast cancer.Case presentationWe present a rare case of a 42-year-old woman with a rapidly progressing 8 cm mass in the right lateral breast. An additional right breast mass with multiple lymph nodes characteristic or suspicious of metastasis was found. Ultrasound-guided biopsy showed high-grade, poorly differentiated invasive neuroendocrine carcinoma of the right breast and metastatic carcinoma of a right axillary lymph node. Genetic testing revealed a germline EGFR T790M mutation. The patient underwent neoadjuvant chemotherapy, right mastectomy with lymph node dissection, adjuvant radiation to the right chest wall and axilla, and adjuvant chemotherapy.ConclusionThis is the first reported case of a patient with high-grade neuroendocrine carcinoma, triple-negative breast cancer and a germline EGFR T790M mutation. Further investigation is needed to find a possible correlation between the cancer in this patient and her mutation. Since there are no current guidelines, further research is also needed to define screening protocols for patients with germline EGFR T790M mutations. Additional treatment options and cancer risk could also be found with further research, which would benefit all patients with a germline EGFR T790M mutation.

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Section: Discussionmentioning

confidence: 99%

Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation

et al. 2023

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“…Extrapulmonary SCC is a rare malignancy that constitutes approximately 2.5–5% of all cases of SCC, with the gastrointestinal and genitourinary tracts being the most common locations [ 6 ]. More infrequently, breast [ 7 ], head and neck [ 8 , 9 , 10 ], uterine cervix [ 11 ], ovary [ 12 ], prostate [ 13 ], kidney [ 14 ] and a wide variety of other anatomical locations of SCC cases have been reported. Specifically, the gastrointestinal variant shares several features with its pulmonary counterpart, suggesting a common biological origin.…”

Section: Introductionmentioning

confidence: 99%

Localized Colonic Small-Cell Carcinoma with Pathological Complete Response after Neoadjuvant Cisplatin and Etoposide: A Case Report

Alía Navarro,

Martínez Delfrade,

De Frutos González

et al. 2023

Current Oncology

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Extrapulmonary small-cell carcinoma (SCC) is a rare neoplasm that shares certain features with its pulmonary counterpart and occurs predominantly in the gastrointestinal tract (GIT). It is a high-grade and poorly differentiated neuroendocrine tumor, usually diagnosed in advanced stages, with a poor prognosis and few therapeutic options in that setting. This is a case report of a 77-year-old Spanish male patient with localized SCC of the colon, who presented a pathological complete response in the surgical specimen after neoadjuvant chemotherapy with cisplatin and etoposide. To date, 5 years after surgery, the patient remains without evidence of tumor recurrence. As clinical guidelines for the management of this entity are lacking, and therefore its management has not been standardized, an attempt to summarize the current evidence in the literature was made.

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High grade neuroendocrine carcinoma of the breast, first line and maintenance immunotherapy

Cited by 2 publications

References 17 publications

Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation

Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation

Localized Colonic Small-Cell Carcinoma with Pathological Complete Response after Neoadjuvant Cisplatin and Etoposide: A Case Report

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