Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1.

ABSTRACT:

Background

Paraganglioma syndrome type 1 (PGL1) is a rare autosomal dominant syndrome associated with multiple, overwhelmingly benign, pheochromocytomas and paragangliomas, attributed to SDHD gene mutations.

Objective

Clinically and molecularly characterize a family with uncommon malignant phenotype of paragangliomas attributed to two seemingly pathogenic SDHD germline mutations.

Materials & methods

The proband presented with large bilateral carotid body tumours and family history of cervical masses in his five siblings. All family members underwent clinical examination, imaging studies (18F-FDG PET/CT) and genotyping of relevant genes. The proband was diagnosed with locally advanced paraganglioma; his hypertensive, otherwise asymptomatic father, had locally advanced

SUBMITTER: Leidenz FB 

PROVIDER: S-EPMC6863626 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature