Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4 gene are supposed to play the major role in SCCOHT oncogenesis and their identification is crucial for the diagnosis. Adequate genetic counselling of the patients and their families seems to be of great importance. Optimal management and treatment approaches are not known yet but may extremely influence the prognosis of young female patients that suffer from this very resistant disease. Nowadays, a translational research seems to be the key for the further diagnostic and treatment strategies of SCCOHT. The purpose of the case report is to provide practical information and useful recommendations on the diagnosis, management, and treatment of SMARCA4-deficient carcinoma of the uterine cervix resembling SCCOHT.

• Klíčová slova
• case report, cervical cancer, diagnostic biomarker, gynecological cancer, high-risk, personalized treatment, predictive marker,
• MeSH
• DNA-helikasy nedostatek   genetika   MeSH
• fatální výsledek MeSH
• hyperkalcemie diagnóza   genetika   metabolismus   terapie   MeSH
• jaderné proteiny nedostatek   genetika   MeSH
• lidé MeSH
• malobuněčný karcinom diagnóza   genetika   metabolismus   terapie   MeSH
• mladiství MeSH
• mutace MeSH
• nádorové biomarkery nedostatek   genetika   MeSH
• nádory děložního čípku diagnóza   genetika   metabolismus   terapie   MeSH
• transkripční faktory nedostatek   genetika   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• DNA-helikasy MeSH
• jaderné proteiny MeSH
• nádorové biomarkery MeSH
• SMARCA4 protein, human MeSH Prohlížeč
• transkripční faktory MeSH

We present a rare case of malignant rhabdoid tumor (ovarian small cell carcinoma of hypercalcemic type) in a 24-year-old female with fulminant course. Clinically, hypercalcemia was not found at the time of primary diagnosis. However, it appeared later during the course of tumor progression. Histologically, the tumor showed classical features of small cell carcinoma of hypercalcemic type. Therapy included radical surgery with adjuvant chemotherapy. Despite this intensive therapy, the disease recurred and the patient died 10 months after the diagnosis. We discuss the diagnosis and therapy of this tumor, as well as its recent classification as malignant rhabdoid tumor.

• Klíčová slova
• Chemotherapy, Immunohistochemistry, Malignant rhabdoid tumor, Ovarian cancer, Small cell carcinoma of hypercalcemic type,
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH