SMARCA4-deficient dedifferentiated ovarian carcinoma with rapid progression during adjuvant platinum-based chemotherapy: a case report and implications for molecular-driven treatment strategies

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F25%3A00082857" target="_blank" >RIV/65269705:_____/25:00082857 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216224:14110/25:00142650

Výsledek na webu

<a href="https://journals.sagepub.com/doi/full/10.1177/17588359251376858" target="_blank" >https://journals.sagepub.com/doi/full/10.1177/17588359251376858</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1177/17588359251376858" target="_blank" >10.1177/17588359251376858</a>

Jazyk výsledku

angličtina

Název v původním jazyce

SMARCA4-deficient dedifferentiated ovarian carcinoma with rapid progression during adjuvant platinum-based chemotherapy: a case report and implications for molecular-driven treatment strategies

Popis výsledku v původním jazyce

Dedifferentiated ovarian carcinomas (DDOC) are rare and aggressive malignancies characterized by a mixture of differentiated and undifferentiated tumor components, often associated with poor prognosis. This case report describes a 55-year-old woman initially diagnosed with early-stage high-grade endometrioid ovarian carcinoma who experienced rapid disease progression during adjuvant platinum-based chemotherapy, culminating in death within 4 months. Retrospective molecular analyses revealed pathogenic variants in the SMARCA4 gene, leading to a revised diagnosis of DDOC. The tumor exhibited resistance to conventional chemotherapy, highlighting the challenges associated with managing this aggressive tumor subtype. In our case, molecular profiling identified two potentially targetable alterations: biallelic SMARCA4 loss and a pathogenic PIK3CA mutation, both of which may inform future therapeutic strategies. This case underscores the importance of integrating molecular diagnostics into routine practice for accurate classification and highlights the urgent need for personalized treatment strategies, including targeted and immunotherapy options, for this formidable tumor subtype.

Název v anglickém jazyce

SMARCA4-deficient dedifferentiated ovarian carcinoma with rapid progression during adjuvant platinum-based chemotherapy: a case report and implications for molecular-driven treatment strategies

Popis výsledku anglicky

Dedifferentiated ovarian carcinomas (DDOC) are rare and aggressive malignancies characterized by a mixture of differentiated and undifferentiated tumor components, often associated with poor prognosis. This case report describes a 55-year-old woman initially diagnosed with early-stage high-grade endometrioid ovarian carcinoma who experienced rapid disease progression during adjuvant platinum-based chemotherapy, culminating in death within 4 months. Retrospective molecular analyses revealed pathogenic variants in the SMARCA4 gene, leading to a revised diagnosis of DDOC. The tumor exhibited resistance to conventional chemotherapy, highlighting the challenges associated with managing this aggressive tumor subtype. In our case, molecular profiling identified two potentially targetable alterations: biallelic SMARCA4 loss and a pathogenic PIK3CA mutation, both of which may inform future therapeutic strategies. This case underscores the importance of integrating molecular diagnostics into routine practice for accurate classification and highlights the urgent need for personalized treatment strategies, including targeted and immunotherapy options, for this formidable tumor subtype.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30204 - Oncology

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Therapeutic Advances in Medical Oncology

ISSN

1758-8340

e-ISSN

1758-8359

Svazek periodika

17

Číslo periodika v rámci svazku

2025

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

8

Strana od-do

17588359251376858

Kód UT WoS článku

001595874600001

EID výsledku v databázi Scopus

2-s2.0-105019083125