Carcinoid tumor of lung and BRCA mutation: a case report

Abstract

Background A BRCA mutation is a mutation in either of the BRCA1 or BRCA2 genes, which are tumor suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, whereas others have no proven impact. BRCA mutations are well known to be associated with breast, uterine, and ovarian cancers along with some nongynecological malignancies involving the peritoneum, prostate, pancreas, skin, stomach, and rectum. However, there are no reported cases to date of an association between carcinoid tumors and a BRCA mutation. Case presentation Our patient was a 33-year-old White woman with BRCA2 mutation who presented to her primary care physician for evaluation of abdominal pain. She underwent computed tomography of her abdomen and pelvis, which showed an incidental finding of infrahilar mass along with renal stones. Further workup with bronchoscopy and biopsy of the mass confirmed it to be a carcinoid tumor of the lung. Conclusions No literature thus far exists describing a connection between BRCA mutations and carcinoid tumors. Early diagnosis and prompt treatment of carcinoid tumors are proven to have impact on survival and prognosis of these patients.

Neuroendocrine syndrome in bronchial carcinoid tumors

“…Carcinoid syndrome is found in 1-5% of cases and Cushing syndrome in 4% of cases of bronchial carcinoid (18,22,23). In our study, carcinoid syndrome was found in 3 patients (3.06%) and Cushing syndrome in two cases (2.04%) of all bronchial carcinoids.…”