Evidence map›Paper›PMID 41961175›Full record

ArticleEuropean journal of pediatrics2026

The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.

Yuwei Liu, Xiaoge Liu, Mengjie Huang, Yanzhen Li, Xuexi Zhang, Xiaodan Li, Nian Sun, Qiaoyin Liu, Zhiyong Liu, Junlong Tan and 4 more

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Article in European journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Yuwei LiuDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Xiaoge LiuHarbin Medical University, Heilongjiang, 150081, China.
Mengjie HuangDepartment of Otolaryngology, Head and Neck Surgery, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, 611731, China.
Yanzhen LiDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Xuexi ZhangDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Xiaodan LiDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Nian SunDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Qiaoyin LiuDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Zhiyong LiuDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Junlong TanDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Wei PangDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Ailei YangDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Xin NiDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China.
Shengcai WangDepartment of Otolaryngology, Head and Neck Surgery, National Center for Children's Health (NCCH), Beijing Children's Hospital, Capital Medical University, No. 56 Nanlishilu, Beijing, 100045, China. wsc820329@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study aimed to retrospectively analyze the clinical characteristics, tumor staging, surgical outcomes, and prognosis of children with MEN2B who presented with MTC. By summarizing our single-center experience, we emphasize the importance of early recognition and genetic screening to provide clinical insights for improving prognosis. Clinical data of six pediatric patients diagnosed with MEN2B in BCH, between January 2019 and December 2023, were reviewed. Demographic characteristics, clinical presentation, laboratory and imaging findings, genetic testing, surgical details, and follow-up information were analyzed. Descriptive statistical methods were used for data analysis. The cohort included 6 patients (2 males, 4 females) with a median age of 9.2 years (range 8.1-14.4 years). All patients harbored the de novo p.M918T RET mutation. 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. All underwent total thyroidectomy and bilateral central compartment neck dissection, with five undergoing concurrent lateral neck dissection due to suspected metastasis. Postoperative pathology confirmed MTC in all cases, with cervical lymph node metastases present in 4 patients (66.7%). Preoperative calcitonin levels were markedly elevated. After a median postoperative follow-up of 2.8 years (range 2.1 to 4.5 years), only one patient (T2N0M0) achieved biochemical remission.

conclusionChildren 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. WHAT IS KNOWN: • Sporadic MEN2B, typically caused by the RET p.M918T mutation, is highly aggressive and requires prophylactic thyroidectomy within the first year of life. • Diagnosis is often delayed due to low awareness of the syndrome, leading to advanced medullary thyroid carcinoma at presentation. WHAT IS NEW: • All six children in this series exhibited the complete MEN2B phenotype (marfanoid habitus, mucosal neuromas, alacrima, gastrointestinal symptoms) yet were diagnosed late, with 66.7% having lymph node metastases. • Despite radical surgery, only one patient achieved biochemical remission, highlighting that delayed diagnosis severely compromises prognosis.

Indexed as

Delayed DiagnosisMultiple Endocrine Neoplasia Type 2bThyroid NeoplasmsAdolescentChildFemaleHumansMaleMutationNeoplasm StagingPhenotypePrognosisProto-Oncogene Proteins c-retRetrospective StudiesThyroidectomyProto-Oncogene Proteins c-retChildDelayed diagnosisMedullary thyroid carcinomaMultiple endocrine neoplasia type 2B

Identifiers

PMID41961175

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.