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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
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287