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  1. Home
  2. Comprehensive Molecular Profiling And Clinicopathological Characteristics Of Gastric-type Mucinous Carcinoma Of The Uterine Cervix In Japanese Women.
  1. Home
  2. Comprehensive Molecular Profiling And Clinicopathological Characteristics Of Gastric-type Mucinous Carcinoma Of The Uterine Cervix In Japanese Women.

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Comprehensive Molecular Profiling and Clinicopathological Characteristics of Gastric-Type Mucinous Carcinoma of the

Hiroki Nasu1, Shin Nishio1, Jongmyung Park1

  • 1Department of Obstetrics and Gynecology, Kurume University School of Medicine.

The Kurume Medical Journal
|February 18, 2024

View abstract on PubMed

Summary
This summary is machine-generated.

Gastric-type mucinous carcinoma (GAS) of the cervix, often diagnosed late, shows frequent TP53 and STK11 alterations. Molecular profiling reveals targetable genomic alterations, suggesting a role for precision medicine in treating this HPV-independent cancer.

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Area of Science:

  • Gynecologic Oncology
  • Molecular Pathology
  • Cancer Genomics

Background:

  • Gastric-type mucinous carcinoma (GAS) is the most common cervical adenocarcinoma independent of human papillomavirus (HPV).
  • GAS is typically diagnosed at advanced stages, presenting a poorer prognosis compared to usual-type endocervical adenocarcinoma.
  • Limited research exists on the molecular profile of GAS, though TP53 and STK11 genetic alterations are frequently reported.

Purpose of the Study:

  • To analyze the clinicopathological characteristics and molecular profile of cervical gastric-type mucinous carcinoma (GAS).
  • To identify common genomic alterations in GAS and assess their potential for targeted therapy.

Main Methods:

  • Analysis of fresh-frozen and formalin-fixed paraffin-embedded (FFPE) tissue specimens from 13 patients with GAS.
  • Next-generation sequencing (NGS) using Cancer Hotspot Panel v2 and FoundationOne companion diagnostic (F1CDx) assay.
  • Comprehensive analysis of clinicopathological data and genomic alterations in 42 genes.
  • Main Results:

    • Seventy-four genomic alterations were identified across 42 genes in the analyzed GAS specimens.
    • TP53, ATRX, CDKN2A, KRAS, APC, and STK11 were the most frequently altered genes, each found in at least three cases.
    • All six patients' FFPE samples analyzed with F1CDx assay exhibited targetable genomic alterations.

    Conclusions:

    • Cervical gastric-type mucinous carcinoma (GAS) exhibits diverse genomic alterations, including frequent TP53 mutations, impacting signaling pathways and cell cycle regulation.
    • The presence of targetable alterations underscores the necessity of molecular profiling for developing effective precision medicine strategies against GAS.
    • Precision medicine approaches tailored to the specific molecular profile of GAS are crucial for improving patient outcomes.