Table 2.
Kindreds and individuals affected by PDGFRA-mutant syndrome
| 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 | ||||
a: SI small intestine, ST stomach
b: E epithelioid, M mixed spindle cell and epithelioid; S spindle cell
c: Inflammatory fibroid polyp
d: Fibrous tumor is likely a variant of IFP [48]
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