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<p>Gastrointestinal stromal tumors (GISTs) harboring the <i>PDGFRA</i> D842Y mutation are extremely rare, and their clinicopathological features have not been characterized to date. Hyogo Medical University has maintained a genetic database of GISTs, including resection cases from Niigata University, since 2003. This database contains information on patient demographics, tumor genotypes (<i>KIT</i> and <i>PDGFRA</i>), tumor size, histological features, and immunohistochemical findings. As of December 2024, 1,024 primary GIST cases had been analyzed, and four cases harboring the <i>PDGFRA</i> D842Y mutation were identified and included in this study. All four patients (three men, aged 57–82&#xa0;years) had large gastric tumors, measuring 9.8–18.7&#xa0;cm in diameter. All tumors harbored a c.2527G &gt; T substitution in exon 18 of <i>PDGFRA</i>, resulting in a D842Y mutation. Histologically, all tumors exhibited epithelioid morphology. KIT expression was absent or markedly reduced, whereas DOG1 was consistently strongly expressed. Three patients presented with an acute abdomen and subsequently underwent surgery. The remaining patient had an unresectable tumor and received tyrosine kinase inhibitor therapy; however, sequential treatment with imatinib and sunitinib was clinically ineffective. <i>PDGFRA</i> D842Y-mutant GISTs share histopathological features with D842V-mutant tumors, including gastric origin, epithelioid morphology, and low KIT expression. However, their clinical behavior differs: D842Y-mutant GISTs consistently present as large, hypervascular tumors associated with acute complications. The therapeutic efficacy of tyrosine kinase inhibitors remains unclear, underscoring the need for further case accumulation to better define the clinical course and determine optimal treatment strategies for this rare subtype.</p>

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Clinicopathological features of PDGFRA D842Y-mutant gastrointestinal stromal tumors: insights from four cases

  • 期刊论文

  • 发表日期：

    2025年10月18日

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  • Tatsuo Kanda,
  • Hiroshi Ichikawa,
  • Seiichi Hirota,
  • Yusuke Tani,
  • Takahiro Watanabe,
  • Yamato Miwa,
  • Yuta Ushida,
  • Noriyuki Uesugi,
  • Toshifumi Wakai

摘要

Gastrointestinal stromal tumors (GISTs) harboring the PDGFRA D842Y mutation are extremely rare, and their clinicopathological features have not been characterized to date. Hyogo Medical University has maintained a genetic database of GISTs, including resection cases from Niigata University, since 2003. This database contains information on patient demographics, tumor genotypes (KIT and PDGFRA), tumor size, histological features, and immunohistochemical findings. As of December 2024, 1,024 primary GIST cases had been analyzed, and four cases harboring the PDGFRA D842Y mutation were identified and included in this study. All four patients (three men, aged 57–82 years) had large gastric tumors, measuring 9.8–18.7 cm in diameter. All tumors harbored a c.2527G > T substitution in exon 18 of PDGFRA, resulting in a D842Y mutation. Histologically, all tumors exhibited epithelioid morphology. KIT expression was absent or markedly reduced, whereas DOG1 was consistently strongly expressed. Three patients presented with an acute abdomen and subsequently underwent surgery. The remaining patient had an unresectable tumor and received tyrosine kinase inhibitor therapy; however, sequential treatment with imatinib and sunitinib was clinically ineffective. PDGFRA D842Y-mutant GISTs share histopathological features with D842V-mutant tumors, including gastric origin, epithelioid morphology, and low KIT expression. However, their clinical behavior differs: D842Y-mutant GISTs consistently present as large, hypervascular tumors associated with acute complications. The therapeutic efficacy of tyrosine kinase inhibitors remains unclear, underscoring the need for further case accumulation to better define the clinical course and determine optimal treatment strategies for this rare subtype.