Open AccessTelocytes are the physiological counterpart of inflammatory fibroid polyps and PDGFRA ‐mutant GIST s
Author(s) -
Ricci Riccardo,
Giustiniani Maria Cristina,
Gessi Marco,
Lanza Paola,
Castri Federica,
Biondi Alberto,
Persiani Roberto,
Vecchio Fabio M.,
Risio Mauro
Publication year - 2018
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.13748
Subject(s) - pdgfra , gist , stromal cell , cancer research , mutant , hyperplasia , biology , gastrointestinal tract , pathology , lesion , germline mutation , mutation , pathogenesis , medicine , immunology , genetics , gene , biochemistry
PDGFRA mutations in the gastrointestinal ( GI ) tract can cause GI stromal tumour ( GIST ) and inflammatory fibroid polyp ( IFP ). Hitherto no cell type has been identified as a physiological counterpart of the latter, while interstitial Cajal cells ( ICC ) are considered the precursor of the former. However, ICC hyperplasia ( ICCH ), which strongly supports the ICC role in GIST pathogenesis, has been identified in germline KIT ‐mutant settings but not in PDGFRA ‐mutant ones, challenging the precursor role of ICC for PDGFRA ‐driven GIST s. Telocytes are a recently described interstitial cell type, CD 34+/ PDGFRA +. Formerly considered fibroblasts, they are found in many organs, including the GI tract where they are thought to be involved in neurotransmission. Alongside IFP s and gastric GIST s, GI wall “fibrosis” has been reported in germline PDGFRA ‐mutants. Taking the opportunity offered by its presence in a germline PDGFRA ‐mutant individual, we demonstrate that this lesion is sustained by hyperplastic telocytes, constituting the PDGFRA ‐mutant counterpart of germline KIT mutation‐associated ICCH . Moreover, our findings support a pathogenetic relationship between telocyte hyperplasia and both IFP s and PDGFRA ‐mutant GIST s. We propose the term “telocytoma” for defining IFP , as it conveys both the pathogenetic (neoplastic) and histotypic (“telocytary”) essence of this tumour, unlike IFP , which rather evokes an inflammatory‐hyperplastic lesion.