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  • A population-based study of patients with small cell carcinoma of the ovary, hypercalcemic type, encompassing a 30-year period
    Blatnik, Ana, 9.8.1980- ...
    Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and lethal tumor, characterized by hypercalcemia and early onset and associated with germ-line and somatic SMARCA4 variants. ... Objective.—To identify all known cases of SCCOHT in the Slovenian population from 1991 to 2021 and present genetic testing results, histopathologic findings, and clinical data for these patients. We also estimate the incidence of SCCOHT. Design.—We conducted a retrospective analysis of hospital medical records and data from the Slovenian Cancer Registry in order to identify cases of SCCOHT and obtain relevant clinical data. Histopathologic review of tumor samples with assessment of immunohistochemical staining for SMARCA4/BRG1 was undertaken to confirm the diagnosis of SCCOHT. Germ-line and somatic genetic analyses were performed using targeted next-generation sequencing. Results.—Between 1991 and 2021 we identified 7 cases of SCCOHT in a population of 2 million. Genetic causes were determined in all cases. Two novel germ-line loss-offunction variants in SMARCA4 LRG_878t1:c.1423_ 1429delTACCTCA p.(Tyr475Ilefs*24) and LRG_878t1: c.3216-1G.T were identified. At diagnosis, patients were ages 21 to 41 and had FIGO stage IA-III disease. Outcomes were poor, with 6 of 7 patients dying of disease-related complications within 27 months from diagnosis. One patient had stable disease for 12 months while receiving immunotherapy. Conclusions.—We present genetic, histopathologic, and clinical characteristics for all cases of SCCOHT identified in the Slovenian population during a 30-year period. We report 2 novel germ-line SMARCA4 variants, possibly associated with high penetrance. We estimate the minimal incidence of SCCOHT to be 0.12 per 1 million per year.
    Vir: Archives of pathology & Laboratory Medicine. - ISSN 0003-9985 (Vol. 147, iss. 6, Jun. 2023, str. [1-10])
    Vrsta gradiva - članek, sestavni del ; neleposlovje za odrasle
    Leto - 2023
    Jezik - angleški
    COBISS.SI-ID - 154465283
    DOI

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