GIST in Turner Syndrome
- 1Department of Medical Oncology, The Royal Marsden Hospital, London, UK.
Abstract
Background
Gastrointestinal stromal tumors (GISTs) have three recognized molecular subtypes-KIT mutant, platelet-derived growth factor receptor alpha (PDGFRA) mutant, and wild-type. KIT and PDGFRA wild-type GISTs are seen in patients with the hereditary syndrome neurofibromatosis, but no such association has been established for Turner syndrome (TS), with only one prior case reported. We describe three further cases from a single UK sarcoma center.Materials and methods
Retrospective review of three women with TS diagnosed with GIST at our center, with clinicopathological and molecular data from routine diagnostic tumor and germline sequencing.Results
Patient 1 (53 years) had a gastric GIST with a rare primary KIT exon 17 mutation, managed surgically with surveillance alone. Patient 2 (64 years) had two synchronous, molecularly distinct gastric GISTs, each with a different PDGFRA mutation. Patient 3 (12 years) had a ruptured succinate dehydrogenase (SDH)-deficient gastric GIST with subsequent hepatic and mediastinal disease, in keeping with a Carney triad-spectrum phenotype.Conclusions
Including the previously reported case, four GISTs have now been described in women with TS. Although case numbers are too few to establish an increased GIST susceptibility in TS, this is a hypothesis-generating observation that warrants further consideration and clarification of whether a genuine association exists.
Related
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- Pilomatricoma in Turner Syndrome: Association with Renal Malformations and Analysis of the Vitamin D Pathway
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BibTeX
@article{williams2026gist,
title = {{GIST in Turner Syndrome}},
author = {S E Williams and A Z Fu and I Williams and O Giger and P Safranek and A Napolitano and R L Jones and R Bulusu},
journal = {ESMO gastrointestinal oncology},
year = {2026},
month = oct,
doi = {10.1016/j.esmogo.2026.100431},
url = {https://europepmc.org/article/PMC/PMC13717892},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - GIST in Turner Syndrome
AU - S E Williams
AU - A Z Fu
AU - I Williams
AU - O Giger
AU - P Safranek
AU - A Napolitano
AU - R L Jones
AU - R Bulusu
PY - 2026
DA - 2026/10/20
JO - ESMO gastrointestinal oncology
DO - 10.1016/j.esmogo.2026.100431
UR - https://europepmc.org/article/PMC/PMC13717892
AB - Background Gastrointestinal stromal tumors (GISTs) have three recognized molecular subtypes-KIT mutant, platelet-derived growth factor receptor alpha (PDGFRA) mutant, and wild-type. KIT and PDGFRA wild-type GISTs are seen in patients with the hereditary syndrome neurofibromatosis, but no such association has been established for Turner syndrome (TS), with only one prior case reported. We describe three further cases from a single UK sarcoma center.Materials and methods Retrospective review of three women with TS diagnosed with GIST at our center, with clinicopathological and molecular data from routine diagnostic tumor and germline sequencing.Results Patient 1 (53 years) had a gastric GIST with a rare primary KIT exon 17 mutation, managed surgically with surveillance alone. Patient 2 (64 years) had two synchronous, molecularly distinct gastric GISTs, each with a different PDGFRA mutation. Patient 3 (12 years) had a ruptured succinate dehydrogenase (SDH)-deficient gastric GIST with subsequent hepatic and mediastinal disease, in keeping with a Carney triad-spectrum phenotype.Conclusions Including the previously reported case, four GISTs have now been described in women with TS. Although case numbers are too few to establish an increased GIST susceptibility in TS, this is a hypothesis-generating observation that warrants further consideration and clarification of whether a genuine association exists.
SN - 2949-8198
ER -