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PDGFRA-mutant syndrome.

Riccardo Ricci¹, Maurizio Martini¹, Tonia Cenci¹

¹Department of Pathology, Catholic University, Rome, Italy.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc

|May 16, 2015

Summary

This summary is machine-generated.

Germline PDGFRA mutations cause various gastrointestinal tumors, including inflammatory fibroid polyps and gastric GISTs. Researchers propose renaming this condition PDGFRA-mutant syndrome for clarity.

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Area of Science:

Gastroenterology and Oncology
Genetics and Molecular Biology
Pathology

Background:

Germline PDGFRA mutations were previously linked to familial gastrointestinal stromal tumors (GISTs) and intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b).
The spectrum of PDGFRA-related gastrointestinal tumors was expanding, including inflammatory fibroid polyps and uncertain gastrointestinal fibrous tumors.

Observation:

A novel inherited PDGFRA mutation (P653L) was identified in a family with multiple gastrointestinal mesenchymal tumors.
Affected adults presented with a combination of inflammatory fibroid polyps, gastric GISTs, and gastrointestinal fibrous tumors.

Findings:

The syndrome previously known as INF/NF3b is characterized by PDGFRA mutations, with inflammatory fibroid polyps often being the predominant tumor type.
Gastrointestinal fibrous tumors appear to be variants of inflammatory fibroid polyps within this syndrome.
Unlike KIT-dependent familial GISTs, PDGFRA-mutant syndrome features stomach-restricted GISTs and lacks diffuse Cajal cell hyperplasia.

Implications:

The proposed term 'PDGFRA-mutant syndrome' offers a more accurate classification than 'familial GIST' or 'INF/NF3b'.
The stomach-specific occurrence of GISTs in this syndrome highlights the role of the gastric environment in PDGFRA-driven tumorigenesis.
Increased awareness of inflammatory fibroid polyps as a potential manifestation could lead to better recognition and diagnosis of PDGFRA-mutant syndrome.