The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.
Delayed diagnosis in pediatric MEN2B leaves most children with lymph node metastasis
The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.
UNLABELLED: This study aimed to retrospectively analyze the clinical characteristics, tumor staging, surgical outcomes, and prognosis of children with MEN2B who presented with MTC.
The cohort included 6 patients (2 males, 4 females) with a median age of 9.2 years (range 8.1-14.4 years).
Clinical data of six pediatric patients diagnosed with MEN2B in BCH, between January 2019 and December 2023, were reviewed.
All patients exhibited the classic MEN2B phenotype (marfanoid habitus, ocular signs, multiple oral mucosal neuromas, vocal cord nodules, high-arched palate, etc.) accompanied by alacrima and gastrointestinal symptoms.
Children with MEN2B demonstrate a highly characteristic and complete phenotypic spectrum.
WHAT IS KNOWN: • Sporadic MEN2B, typically caused by the RET p.
Children with MEN2B demonstrate a highly characteristic and complete phenotypic spectrum. However, diagnostic delay in children with sporadic MEN2B is common, often leading to lymph node metastasis at diagnosis.
Enhancing awareness of its distinctive features among relevant specialists and establishing efficient multidisciplinary team-based recognition and referral pathways are crucial for achieving early genetic diagnosis, enabling timely prophylactic surgery, and ultimately improving long-term outcomes.