Gastrointestinal stromal tumor: Recent advances in pathology and genetics

Research output: Contribution to journalReview article

24 Citations (Scopus)

Abstract

The discovery of KIT gene mutation in gastrointestinal stromal tumor (GIST) has provided a paradigm shift in the classification, diagnosis and molecular-targeted therapy of gastrointestinal mesenchymal tumors. There is growing evidence of phenotype-genotype (KIT, platelet-derived growth factor receptor-alpha, succinate dehydrogenase or other driver gene mutation) and genotype-therapeutic (sensitivity to imatinib) correlations in GIST. Risk stratification based on mitotic counts, tumor size and rupture is useful for the prognostication and management of patients with GIST. Blood vessel invasion is a strong indicator of liver metastasis in GIST. In addition, novel biomarkers such as cell-cycle regulators, microRNAs and their targets have been discovered by using high throughput molecular analyses. In contrast, leiomyosarcoma of the gastrointestinal tract has become a very rare entity in the 'KIT' era, and its molecular pathogenetic mechanism is unclear. Recent studies have revealed a wide spectrum of cytological atypia, mitotic counts and biological behavior of gastrointestinal smooth muscle tumors, suggesting the necessity of establishing the criteria for malignancy. Collectively, both classical histopathological procedures and modern molecular investigations are indispensable for the evolution of diagnosis and treatment of GIST and mimics.

Original languageEnglish
Pages (from-to)9-18
Number of pages10
JournalPathology International
Volume65
Issue number1
DOIs
Publication statusPublished - Jan 1 2015

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Gastrointestinal Stromal Tumors
Pathology
Genotype
Smooth Muscle Tumor
Molecular Targeted Therapy
Platelet-Derived Growth Factor alpha Receptor
Neoplasms
Mutation
Succinate Dehydrogenase
Leiomyosarcoma
Genetic Association Studies
MicroRNAs
Blood Vessels
Gastrointestinal Tract
Rupture
Cell Cycle
Biomarkers
Neoplasm Metastasis
Phenotype
Liver

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Gastrointestinal stromal tumor : Recent advances in pathology and genetics. / Yamamoto, Hidetaka; Oda, Yoshinao.

In: Pathology International, Vol. 65, No. 1, 01.01.2015, p. 9-18.

Research output: Contribution to journalReview article

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