关键词： case report cervical cancer diagnostic biomarker gynecological cancer high-risk personalized treatment predictive marker

Mesh ： Adolescent Biomarkers, Tumor / deficiency genetics Carcinoma, Small Cell / diagnosis genetics metabolism therapy DNA Helicases / deficiency genetics Fatal Outcome Female Humans Hypercalcemia / diagnosis genetics metabolism therapy Mutation Nuclear Proteins / deficiency genetics Transcription Factors / deficiency genetics Uterine Cervical Neoplasms / diagnosis genetics metabolism therapy

来  源：   DOI：10.3389/pore.2021.1610003   PDF(Pubmed)

Abstract：
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.
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