Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years

Angeliki Makri; Srivandana Akshintala; Claudia Derse-Anthony; Brigitte Widemann; Constantine A Stratakis; John Glod; Maya Lodish

doi:10.1016/j.jpeds.2018.08.022

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years

J Pediatr. 2018 Dec:203:447-449. doi: 10.1016/j.jpeds.2018.08.022. Epub 2018 Oct 9.

Authors

Angeliki Makri¹, Srivandana Akshintala², Claudia Derse-Anthony³, Brigitte Widemann⁴, Constantine A Stratakis⁵, John Glod⁴, Maya Lodish⁵

Affiliations

¹ Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD. Electronic address: angeliki.makri@nih.gov.
² Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; Division of Pediatric Hematology/Oncology, New York University School of Medicine, New York, NY.
³ Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD.
⁴ Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
⁵ Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD.

Abstract

We describe the presenting symptoms and signs of multiple endocrine neoplasia type 2B in a cohort of children. Improved awareness of the early nonendocrine signs of multiple endocrine neoplasia type 2B could lead to earlier diagnosis before the development of medullary thyroid cancer and possibly its metastasis.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Adolescent
Adrenal Gland Neoplasms / diagnosis*
Carcinoma, Neuroendocrine / diagnosis*
Child
Delayed Diagnosis
Female
Humans
Male
Multiple Endocrine Neoplasia Type 2b / diagnosis*
Mutation
Neoplasm Metastasis
Pheochromocytoma / diagnosis*
Proto-Oncogene Proteins c-ret / genetics
Retrospective Studies
Thyroid Neoplasms / diagnosis*

Substances

Proto-Oncogene Proteins c-ret
RET protein, human

Supplementary concepts

Thyroid cancer, medullary

Grants and funding

Z99 CA999999/Intramural NIH HHS/United States