Hereditary inflammatory fibroid polyps caused by germline pathogenic variants in PDGFRA: Refining PDGFRA-mutation syndrome

Gastric submucosal granuloma with eosinophilic infiltration.

Am J Pathol. 1949; 25: 397-411Pasini B McWhinney SR Bei T et al.

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Eur J Hum Genet. 2008; 16: 79-88https://doi.org/10.1038/sj.ejhg.5201904

Gastrointestinal stromal tumors (GISTs): definition, occurrence, pathology, differential diagnosis and molecular genetics.

Pol J Pathol. 2003; 54: 3-24

Recurrent familial inflammatory fibroid polyps of the small intestine.

J Clin Pathol. 1969; 22: 743https://doi.org/10.1136/jcp.22.6.743-bAnthony PP Morris DS Vowles KD.

Multiple and recurrent inflammatory fibroid polyps in three generations of a Devon family: a new syndrome.

Gut. 1984; 25: 854-862https://doi.org/10.1136/gut.25.8.854Heimann R Verhest A Verschraegen J et al.

Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease.

Neurofibromatosis. 1988; 1: 26-32Allibone RO Nanson JK Anthony PP.

Multiple and recurrent inflammatory fibroid polyps in a Devon family ('Devon polyposis syndrome'): an update.

Gut. 1992; 33: 1004-1005https://doi.org/10.1136/gut.33.7.1004Balsara KP Hussain M Dubash C. et al.

A rare case of multiple inflammatory fibroid polyps in a young woman with family history of inflammatory fibroid polyps.

Trop Gastroenterol. 2014; 35: 196-198https://doi.org/10.7869/tg.215Bayle S Rossi P Bagneres D. et al.

Polype fibro-inflammatoire de l'iléon révélé par une invagination. A propos d'un cas familial [Ileum inflammatory fibroid polyp revealed by intussusception. About one familial case].

Rev Med Interne. 2005; 26: 233-237https://doi.org/10.1016/j.revmed.2004.10.030Chompret A Kannengiesser C Barrois M. et al.

PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.

Gastroenterology. 2004; 126: 318-321https://doi.org/10.1053/j.gastro.2003.10.079de Raedt T Cools J Debiec-Rychter M et al.

Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

Gastroenterology. 2006; 131: 1907-1912https://doi.org/10.1053/j.gastro.2006.07.002Pasini B Matyakhina L Bei T. et al.

Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.

J Clin Endocrinol Metab. 2007; 92: 3728-3732https://doi.org/10.1210/jc.2007-0894

Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutation.

Am J Surg Pathol. 2008; 32: 1412-1420https://doi.org/10.1097/PAS.0b013e31816250ceRicci R Martini M Cenci T. et al.

PDGFRA-mutant syndrome.

Mod Pathol. 2015; 28: 954-964https://doi.org/10.1038/modpathol.2015.56Manley PN Abu-Abed S Kirsch R. et al.

Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype.

Hum Pathol. 2018; 76: 52-57https://doi.org/10.1016/j.humpath.2018.02.014Ricci R Martini M Cenci T. et al.

Divergent gastrointestinal stromal tumors in syndromic settings.

Cancer Genet. 2016; 209: 354-358https://doi.org/10.1016/j.cancergen.2016.05.073

Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 175510: 7/12/2019: https://omim.org/

Richards S Aziz N Bale S et al.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology.

Genet Med. 2015; 17: 405-424https://doi.org/10.1038/gim.2015.30

Catalogue of Somatic Mutations in Cancer (COSMIC). https://cancer.sanger.ac.uk/cosmic. Accessed July 2020.

Inherited predisposition to gastrointestinal stromal tumor [published correction appears in Hematol Oncol Clin North Am. 2010 Jun;24(3):xiii].

Hematol Oncol Clin North Am. 2009; 23 (1-vii)https://doi.org/10.1016/j.hoc.2008.12.003Rahmi G Vinet MA Perrod G. et al.

Efficacy of double-balloon enteroscopy for small-bowel polypectomy: clinical and economic evaluation.

Therap Adv Gastroenterol. 2017; 10: 465-472https://doi.org/10.1177/1756283X17696232Kirakosyan E Lokhmatov M.

High-Tech Diagnostic Methods and Enteroscopic Treatment of Children with Peutz-Jeghers Syndrome [published online ahead of print, 2019 Nov 26].

Eur J Pediatr Surg. 2019; (10.1055/s-0039-3400286)https://doi.org/10.1055/s-0039-3400286

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