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

Česká verze

Authors: L. Hruška ¹; I. Sirák ¹; J. Laco ²; P. Fridrichová ³; H. Nosková ⁴; O. Slabý ⁴; K. Pál ⁴; V. Bočkayová ¹; M. Hodek ¹; J. Petera ¹
Authors place of work: Klinika onkologie a radioterapie FN Hradec Králové ¹; Fingerlandův ústav patologie, FN Hradec Králové ²; Oddělení lékařské genetiky, FN Hradec Králové ³; CEITEC – Středoevropský technologický institut, Masarykova univerzita, Brno ⁴
Published in the journal: Klin Onkol 2019; 32(6): 456-462
Category: Kazuistika
doi: https://doi.org/10.14735/amko2019456

Summary

Background: 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.

Observation: 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.

Conclusion: 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

Keywords:

hereditary neoplastic syndromes – PALB2, BRCA2 mutation – whole exome sequencing – small-cell carcinoma, hypercalcemic type – rare cervical cancer

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