Divergent gastrointestinal stromal tumors in syndromic settings.
The vast majority of gastrointestinal stromal tumors (GISTs) occur as sporadic tumors. Rarely, however, these neoplasms can arise in syndromic contexts. Under these circumstances, GISTs are often multiple and associated with accompanying signs peculiar of the hosting syndrome. Moreover, syndromic GISTs themselves tend to show heterogeneous features depending on the underlying condition. Multiple inflammatory fibroid polyps (IFPs) and a jejunal spindle-cell GIST were resected in a germline PDGFRA-mutant individual. Although the association of IFP and GIST is typical of this genetic setting (PDGFRA mutations can in fact trigger both these tumor types), PDGFRA-mutant GISTs are usually epithelioid and gastric. This discrepancy was settled evidencing a somatic KIT mutation in the GIST. The awareness of possible somatic mutations can be critical in the management of high-risk/malignant GISTs arising in syndromic settings. GIST features unusual for a given GIST-predisposing syndrome are a valuable tool in the hands of physicians for suspecting these "extra" triggers, which could not be sought for once a diagnosis of GIST-prone syndrome is well established, in a bona fide cost/benefit perspective.
Department of Pathology, Catholic University, Rome, Italy. Electronic address: riccardo.ricci@unicatt.it.
Riccardo
R
Ricci
Department of Pathology, Catholic University, Rome, Italy.
Maurizio
M
Martini
Department of Pathology, Catholic University, Rome, Italy.
Tonia
T
Cenci
Department of Digestive Endoscopy, Catholic University, Rome, Italy.
Maria Elena
ME
Riccioni
Department of Surgery, Catholic University, Rome, Italy.
Giorgio
G
Maria
Department of Oncology, Catholic University, Rome, Italy.
Alessandra
A
Cassano
Department of Pathology, Catholic University, Rome, Italy.
Luigi Maria
LM
Larocca
D000368:Aged; D053704:Capsule Endoscopy; D016145:Endoscopy, Digestive System; D005770:Gastrointestinal Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D018095:Germ-Line Mutation; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D016896:Treatment Outcome
D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha
PDGFRA; Syndromic gastrointestinal stromal tumors; divergent gastrointestinal stromal tumors; familial gastrointestinal stromal tumors; germline mutations