Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing

DOTATOC-PET/CT of both spouses; the upper one showing no evidence of a cervico-thoraco-abdominal lesion suspicious for malignancy (wife), the lower one showing a stable glomus tumor on the right side of the neck (husband). Key Clinical MessagesThe newly published clinical consensus guideline on the management of PGL/PCC is helpful for decision-making for diagnostics and treatment. Still, the treatment of patients with SDHD gene mutations requires an individual approach and those patients belong to multiprofessional teams. It is often assumed that spouses are genetically unrelated. However, the genetic relationships between spouses should always be examined empathetically and impartially.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research