Activating <i>PDGFRA</i> mutations in inflammatory fibroid polyps occur in exons 12, 14 and 18 and are associated with tumour localization

Huss, Sebastian; Wardelmann, Eva; Goltz, Diane; Binot, Elke; Hartmann, Wolfgang; Merkelbach‐Bruse, Sabine; Büttner, Reinhard; Schildhaus, Hans–Ulrich

doi:10.1111/j.1365-2559.2012.04203.x

Cited by 89 publications

(78 citation statements)

References 20 publications

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“…5,6 PDGFRA exon-14 mutations occur in o 1% of GISTs 26 and, to the best of our knowledge, have very rarely been reported in inflammatory fibroid polyps. 27 P653L PDGFRA mutation is hitherto unreported. 28 Highly conserved amino acid alignment of tyrosine kinase I PDGFRA and KIT domains shows correspondence between codon 653 of PDGFRA and codon 649 of KIT (exon 13), whose substitutions have also never been reported.…”

Section: Discussionmentioning

confidence: 99%

PDGFRA-mutant syndrome

et al. 2015

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Section: Discussionmentioning

confidence: 99%

PDGFRA-mutant syndrome

et al. 2015

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“…11 Accordingly, the reported gallbladder tumor would belong to the ''gastric'' type of IFPs; however, considering the specific PDGFRA mutation instead of the exon harboring it, it is noteworthy that the only IFP with a PDGFRA del D842 reported before the one described in this study was actually found in the small bowel, namely in the duodenum. 12 Thus, in a perspective of possible site-specific PDGFRA mutations of IFPs, it seems conceivable that the present gallbladder case is more akin to a comparatively unusual intestinal-type of IFP bearing the PDGFRA exon 18 mutation del D842 than to the ''gastric'' IFP family sharing a PDGFRA exon 18 mutation in a broad sense.…”

Section: Commentmentioning

confidence: 64%

Inflammatory Fibroid Polyp of the Gallbladder Bearing a Platelet-Derived Growth Factor Receptor Alpha Mutation

Martini¹,

Santoro²,

Familiari³

et al. 2013

Archives of Pathology &Amp; Laboratory Medicine

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The inflammatory fibroid polyp (IFP) is a benign lesion occurring in the digestive tract, mostly in the stomach and small bowel, composed of fibrovascular tissue infiltrated by inflammatory cells including eosinophils and mastocytes. Its pathogenesis has been controversial (reactive versus neoplastic). The recent finding of mutations in platelet-derived growth factor receptor α (PDGFRA) in most gastric and small intestinal IFPs supported their neoplastic etiology, moreover helping in their differential diagnosis. In the only gallbladder IFP reported so far, the diagnosis was based on morphologic and immunohistochemical grounds, which in current standards would probably be considered not fully conclusive. Conversely, the gallbladder IFP we report shows typical pathologic features supported by a PDGFRA mutation, similar to its usual gastric and small intestinal counterparts, constituting the first report of an unequivocal IFP at gallbladder level. Thus, IFPs must be considered in the differential diagnosis of gallbladder mesenchymal masses, and genetic analysis of PDGFRA is a helpful tool for this purpose.

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“…The frequency of mutations ranges from 21% to 69%. 5,6 In the gastric type of IFP, spindle cells are positive for CD 34. However in the intestinal type this is not seen.…”

Section: Genetics and Immunohistochemistrymentioning

confidence: 99%