A novel RET gene mutation in a patient with apparently sporadic pheochromocytoma

Scollo, Claudia; Russo, Marco; Gregorio, Laura De; Terranova, Rosa; Mangione, Erika; Castoro, Carlotta; Squatrito, Sebastiano; Pellegriti, Gabriella

doi:10.1507/endocrj.ej15-0399

Cited by 1 publication

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“…To date (2018), over 100 genetic alterations in RET have been reported and registered in the “ RET protooncogene database” [ 13 ], and the penetrance of RET mutation-related diseases varies depending on the site of the RET mutation [ 10 ]. In patients with some RET gene mutation types, the occurrence of PCC as an initial clinical manifestation is more frequent than the occurrence of MTC [ 14 – 18 ]. For this reason, mutation screening of RET in PPGL patients and their families is important for the establishment of appropriate treatment management plans [ 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

Kang

Kim

et al. 2018

Case Reports in Endocrinology

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Pheochromocytoma and paraganglioma are tumors of neuroectoderm origin. Up to 40% of patients with these tumors have germline mutations in known susceptibility genes. We report a novel RET germline mutation (exon 15; c.2692G>T (D898Y)) in a pheochromocytoma patient, as well as in her two asymptomatic sons and older sister. A 49-year-old female came to our clinic presenting with a right adrenal gland mass detected during a healthcare examination. Her mother and two sisters had previously undergone thyroidectomy for papillary thyroid carcinomas. The levels of vanillylmandelic acid and other catecholamines were elevated in 24-hour urine, and an imaging study revealed a right adrenal mass. She underwent laparoscopic adrenalectomy and the final pathologic diagnosis was pheochromocytoma. Mutation screening detected a RET p.D898Y mutation, both in the patient and in the patient's two sons and older sister. This is the first description of a RET D898Y mutation in a pheochromocytoma patient and her family. The mutation should be categorized as a variant of unknown significance because no RET gene related disorders were detected in this family. Long term follow-up will be required to determine the clinical significance of the RET D898Y mutation.

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