Paraganglioma

Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas (PA) were investigated. Known pheo/PGL genes (SDHA-D, SDHAF2, RET, VHL, TMEM127, MAX, FH) and pituitary adenoma genes (MEN1, A… (full text at CIViC)

PMID 25494863 · Dénes et al., 2015 · Open in CIViC

A germline SDHB c.314T>A variant was found in a 37 year old man with metastatic sympathetic abdominal paraganglioma. The variant was originally classified as a VUS. The loss of SDHB expression on the … (full text at CIViC)

PMID 40213107 · Bernardi et al., 2025 · Open in CIViC

An in-frame duplication of 12 nucleotides resulting in the insertion of 4 amino acids within exon 6 of the SDHB gene was found in a single female case (a 13-year-old) with confirmed paraganglioma. The… (full text at CIViC)

PMID 20193854 · Musil et al., 2010 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 51 year-old female with unil… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 72 year-old female with unil… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 35 year-old male with unilat… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

A case report of a 70Y female NF1 patient was diagnosed with an isolated pheochromocytoma, hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1… (full text at CIViC)

PMID 19558618 · Gkaliagkousi et al., 2009 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This splice variant causes a premature stop codon at amino acid 66… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

Frequency of VHL, RET, SDHD, SDHC, and SDHB germline mutations in 21 patients clinically classified as having apparently sporadic pheochromocytomas or paragangliomas was assessed. Germline variations … (full text at CIViC)

PMID 12807974 · Bauters et al., 2003 · Open in CIViC