Extra-Endocrine Features in Infancy as Early Clues to MEN2B.
This retrospective five-patient MEN2B case series reports that infant or early-childhood extra-endocrine manifestations—including chronic constipation, congenital clubfoot, and alacrimia—prompted RET testing and diagnosis before or near endocrine disease onset, enabling timely surgical management.
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This retrospective five-patient MEN2B case series reports that infant or early-childhood extra-endocrine manifestations—including chronic constipation, congenital clubfoot, and alacrimia—prompted RET testing and diagnosis before or near endocrine disease onset, enabling timely surgical management.
Research significance
The reported cases support early recognition of characteristic extra-endocrine features as a trigger for RET testing; it is plausible, but not established by this uncontrolled series, that this pathway could enable thyroidectomy before metastatic medullary thyroid carcinoma and thereby improve outcomes.
Source abstract
Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer predisposition syndrome in which prognosis is strongly influenced by the stage of medullary thyroid carcinoma at diagnosis. Virtually all affected children exhibit 1 or more extra-endocrine features during childhood, offering an opportunity for timely recognition. We retrospectively reviewed 5 pediatric patients with MEN2B managed at Bambino Gesù Children's Hospital, all carrying the highest-risk RET proto-oncogene mutation (M918T); 4 cases were de novo and 1 was maternally inherited. In each case, genetic testing was prompted by extra-endocrine manifestations observed during infancy or early childhood, including chronic constipation, congenital clubfoot, and alacrimia. Recognition of these early clinical features led to genetic diagnosis before or at the onset of endocrine disease and enabled timely surgical management. This case series highlights the spectrum of extra-endocrine manifestations that may precede endocrine disease in MEN2B and emphasizes their value as early diagnostic clues. Early recognition of these features may facilitate prompt genetic testing and timely thyroidectomy before metastatic medullary thyroid carcinoma develops.