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Table 2 Kindreds and individuals affected by PDGFRA-mutant syndrome

From: Syndromic gastrointestinal stromal tumors

Reference Type of report (family vs. single individual) Mutant exon (mutation) GIST Associated signs
  Sitea Histologyb IFPc GI fibrous tumorsd GI lipomas Large hands Other manifestations
Chompret et al. [45] family 18 (p.D846Y) yes ST M (mainly E)     yes  
de Raedt et al. [71]; Heimann et al. [78] family 12 (p.Y555C)      yese   yes Broad wrists, glaucoma
Pasini et al.[46]; Carney and Stratakis [47] individual 12 (p.V561D) yes ST M (mainly E)   yes yes   
Ricci et al. [48] family 14 (p.P653L) yes ST E, M (mainly E) yes yes yes   
Ricci et al. [72] Individual (mother and grandmother suffered a gut occlusion) (likely related to the above mentioned kindred [48]) 14 (p.P653L) yes (bearing a concomitant somatic KIT mutation) SI S yes     
  1. a: SI small intestine, ST stomach
  2. b: E epithelioid, M mixed spindle cell and epithelioid; S spindle cell
  3. c: Inflammatory fibroid polyp
  4. d: Fibrous tumor is likely a variant of IFP [48]
  5. e: When a germline PDGFRA mutation was found in the referred kindred, these tumors were considered GISTs since GISTs were the only PDGFRA-mutant GI tumors known at that time