Pathological characteristics of gastrointestinal stromal tumours with PDGFRA mutations

Ji Eun Kwon, Hyun Ju Kang, SeHoon Kim, Yongchan Lee, WooJin Hyung, Sung Hoon Noh, Namkyu Kim, Hoguen Kim

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Aims: The aim of this study was to identify the characteristics of PDGFRA-mutated gastrointestinal stromal tumours GISTs in comparison with KIT-mutated GISTs. Methods: A total of 151 GISTs were examined for KIT and PDGFRA mutations, and clinical and histopathological parameters were evaluated and analysed statistically according to mutation status. Results: KIT and PDGFRA mutations were detected in 123 81.5 and 15 cases 9.9, respectively. Clinically, all PDGFRA-mutated GISTs were located in the stomach with no recurrences and tumour-related deaths were noted. Pathological parameters associated with PDGFRA mutations were epithelioid and mixed type, low to moderate cellularity, moderate to severe intratumoural lymphocytic infiltration, prominent myxoid change, frequent rhabdoid cells and multinucleated giant cells, increased cellular pleomorphism, low mitotic count, and lower risk assessment p < 0.05. Compared with KIT-mutated GISTs, PDGFRA-mutated GISTs had unique histopathological patterns, intermingling of spindle and epithelioid cells, andor a jigsaw puzzle-like arrangement of epithelioid cells. Conclusions: PDGFRA-mutated GISTs have distinctive histological patterns that are differentiated from KIT-mutated GISTs. The algorithmic approach by a combination of several distinguishing histological and immunohistochemical features between KIT- and PDGFRA-mutated GISTs might be helpful in predicting the mutated gene of each GIST on pathological examination.

Original languageEnglish
Pages (from-to)544-554
Number of pages11
JournalPathology
Volume41
Issue number6
DOIs
Publication statusPublished - 2009 Jan 1

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Gastrointestinal Stromal Tumors
Epithelioid Cells
Mutation
Giant Cells
Stomach
Recurrence
Genes
Neoplasms

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Kwon, Ji Eun ; Kang, Hyun Ju ; Kim, SeHoon ; Lee, Yongchan ; Hyung, WooJin ; Noh, Sung Hoon ; Kim, Namkyu ; Kim, Hoguen. / Pathological characteristics of gastrointestinal stromal tumours with PDGFRA mutations. In: Pathology. 2009 ; Vol. 41, No. 6. pp. 544-554.
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Pathological characteristics of gastrointestinal stromal tumours with PDGFRA mutations. / Kwon, Ji Eun; Kang, Hyun Ju; Kim, SeHoon; Lee, Yongchan; Hyung, WooJin; Noh, Sung Hoon; Kim, Namkyu; Kim, Hoguen.

In: Pathology, Vol. 41, No. 6, 01.01.2009, p. 544-554.

Research output: Contribution to journalArticle

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AU - Kim, SeHoon

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