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

Oncological diseases have, in most cases, a multifactorial etiology, composed of a combination of external and internal environmental factors. Hereditary tumorous syndromes are mostly autosomal dominant diseases with incomplete but very high penetrance. The patient, an 18-year-old virgin female, con...

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Published in:	Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti Vol. 32; no. 6; p. 456
Main Authors:	Hruška, L, Sirák, I, Laco, J, Fridrichová, P, Nosková, H, Slabý, O, Pál, K, Bočkayová, V, Hodek, M, Petera, J
Format:	Journal Article
Language:	English
Published:	Czech Republic 2019
Subjects:	Adolescent BRCA2 Protein - genetics Carcinoma, Small Cell - diagnostic imaging Carcinoma, Small Cell - genetics Carcinoma, Small Cell - pathology Fanconi Anemia Complementation Group N Protein - genetics Female Humans Hypercalcemia - diagnostic imaging Hypercalcemia - genetics Hypercalcemia - pathology Magnetic Resonance Imaging Mutation Uterine Cervical Neoplasms - diagnostic imaging Uterine Cervical Neoplasms - genetics Uterine Cervical Neoplasms - pathology rare cervical cancer PALB2, BRCA2 mutation hereditary neoplastic syndromes small-cell carcinoma, hypercalcemic type whole exome sequencing
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Summary:	Oncological diseases have, in most cases, a multifactorial etiology, composed of a combination of external and internal environmental factors. Hereditary tumorous syndromes are mostly autosomal dominant diseases with incomplete but very high penetrance. The patient, an 18-year-old virgin female, consulted a gynecologist in June 2018 because of metrorrhagia. Magnetic resonance imaging revealed a cervical tumor with the dimensions 80 × 90 × 80 mm. Histological analysis confirmed the presence of a very rare hypercalcemic type of small-cell carcinoma of the cervix. Further investigation of the germinal exom of the patient showed pathological variations in genes PALB2 and BRCA2, presented with recommendation of detailed examination by medical genetics. Clinical experience with this type of tumor is very limited, but it still comes with some useful outcome. Small cell carcinomas of the gynecologic tract are very rare, aggressive diseases, with very poor prognosis, affecting mainly young women. Their origin is most often the ovaries, based on most clinical data, but these tumor also localize to the endometrium, cervix, vagina and vulva. 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. This work was supported by MH CR grant 16-33209A and research program of Charles University Progress Q40/06. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 10. 6. 2019 Accepted: 9. 9. 2019.
ISSN:	1802-5307
DOI:	10.14735/amko2019456