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Rare Hereditary Burden associated with a Hypercalcemic Small-Cell Carcinoma of Cervix in a Young Female Patient

Publication at Faculty of Medicine in Hradec Králové |
2019

Abstract

Hereditary tumorous syndromes are mostly autosomal dominant diseases with incomplete but very high penetrance. Clinical experience with this type of tumor is very limited, but it still come with some useful outcome.

Small cell carcinomas of the gynecologic tract are very rare, aggressive diseases, with very poor prognosis, affecting mainly young women. it is an extremely rare type of cancer, for which clinical data is scant due to the extremely low number of reported cases. In this patient, the carcinoma had an unusual genetical mutation burden, which she inherited from her parents.

In the light of these findings, we recommend that patients suspected of having a small-cell of the gynecologic tract provide a detailed family history, and that genetic testing be considered in similar cases.