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Molecular Profiling of KIT/PDGFRA-Mutant and Wild-Type Gastrointestinal Stromal Tumors (GISTs) with Clinicopathological Correlation: An 18-Year Experience at a Tertiary Center in Kuwait.
Ali, Rola H; Alsaber, Ahmad R; Mohanty, Asit K; Alnajjar, Abdulsalam; Mohammed, Eiman M A; Alateeqi, Mona; Jama, Hiba; Almarzooq, Ammar; Benobaid, Noelle; Alqallaf, Zainab; Ahmed, Amir A; Bahzad, Shakir; Alkandari, Mohammad.
Afiliação
  • Ali RH; Department of Pathology, College of Medicine, Kuwait University, Safat 13110, Kuwait.
  • Alsaber AR; Histopathology Laboratory, Sabah Hospital, Sabah Medical District, Safat 13001, Kuwait.
  • Mohanty AK; Department of Management, College of Business and Economics, American University of Kuwait, Safat 13034, Kuwait.
  • Alnajjar A; Department of Medical Oncology, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Mohammed EMA; Department of Medical Oncology, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Alateeqi M; Molecular Genetics Laboratory, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Jama H; Molecular Genetics Laboratory, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Almarzooq A; Molecular Genetics Laboratory, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Benobaid N; Molecular Genetics Laboratory, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Alqallaf Z; Molecular Genetics Laboratory, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Ahmed AA; Molecular Genetics Laboratory, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Bahzad S; Molecular Genetics Laboratory, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
  • Alkandari M; Molecular Genetics Laboratory, Kuwait Cancer Center, Sabah Medical District, Safat 13001, Kuwait.
Cancers (Basel) ; 16(16)2024 Aug 21.
Article em En | MEDLINE | ID: mdl-39199677
ABSTRACT
In gastrointestinal stromal tumors (GISTs), identifying prototypical mutations in the KIT/PDGFRA oncogenes, or in rare alternate genes, is essential for prognostication and predicting response to tyrosine kinase inhibitors. Conversely, wild-type GISTs (WT-GIST), which lack known mutations, have limited treatment options. Data on the mutational landscape of GISTs and their impact on disease progression are very limited in Kuwait. Using a targeted next-generation sequencing panel, we investigated the spectrum and frequency of KIT, PDGFRA, and RAS-pathway-related mutations in 95 out of 200 GISTs diagnosed at Kuwait Cancer Center from 2005 to 2023 and assessed their correlation with clinicopathological parameters. Among the 200 tumors (median age 55 years; 15-91), 54% originated in the stomach, 33% in the small bowel, 7% in the colorectum, 1.5% in the peritoneum, and 4.5% had an unknown primary site. Of the 95 molecularly profiled cases, 88% had a mutation KIT (61%), PDGFRA (25%), NF1 (2%), and one NTRK1 rearrangement. Ten WT-GISTs were identified (stomach = 6, small bowel = 2, and colorectum = 2). WT-GISTs tended to be smaller (median 4.0 cm; 0.5-8.0) (p = 0.018), with mitosis ≤5/5 mm2, and were of lower risk (p = 0.019). KIT mutations were an adverse indicator of disease progression (p = 0.049), while wild-type status did not significantly impact progression (p = 0.934). The genetic landscape in this cohort mirrors that of global studies, but regional collaborations are needed to correlate outcomes with genetic variants.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Cancers (Basel) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Kuait País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Cancers (Basel) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Kuait País de publicação: Suíça