دورية أكاديمية
Clues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma.
| العنوان: | Clues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma. |
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| المؤلفون: | Taylor-Miller T; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, New Sout Wales, Australia., Tucker K; Hereditary Cancer Centre, Prince of Wales Hospital Randwick, New Sout Wales, Australia.; Discipline of Paediatrics, School of Clinical Medicine, University of New South Wales, Medicine and Health, Sydney, Australia., Sugo E; Department of Anatomical Histopathology, John Hunter Hospital, Newcastle, New South Wales, Australia., Anazodo A; Discipline of Paediatrics, School of Clinical Medicine, University of New South Wales, Medicine and Health, Sydney, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, New Sout Wales, Australia.; Discipline of Paediatrics, School of Clinical Medicine, University of New South Wales, Medicine and Health, Sydney, Australia. |
| المصدر: | Pediatrics [Pediatrics] 2024 Sep 01; Vol. 154 (3). |
| نوع المنشور: | Journal Article; Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Elk Grove Village Il : American Academy of Pediatrics Original Publication: Springfield, Ill., Thomas. |
| مواضيع طبية MeSH: | Multiple Endocrine Neoplasia Type 2b*/genetics , Multiple Endocrine Neoplasia Type 2b*/diagnosis , Thyroid Neoplasms*/diagnosis , Thyroid Neoplasms*/genetics , Proto-Oncogene Mas* , Carcinoma, Neuroendocrine*/diagnosis , Carcinoma, Neuroendocrine*/genetics, Humans ; Male ; Female ; Child ; Infant, Newborn ; Child, Preschool ; Neonatal Screening ; Early Diagnosis ; Infant |
| مستخلص: | Early onset medullary thyroid carcinoma, later pheochromocytomas, and nonspecific extra-endocrine features (hypermobility and persistent constipation) are part of the clinical phenotype of Multiple Endocrine Neoplasia type 2B (MEN2B). A de novo pathogenic M918T variant in the rearranged during transfection proto-oncogene is usually identified. Affected children are often seen by multiple clinicians over a long period before consideration of a diagnosis of MEN2B, with metastatic medullary thyroid carcinoma often the precipitator. We describe the clinical presentation and course of 5 children ultimately diagnosed with MEN2B in New South Wales and the Australian Capital Territory, Australia between 1989 and 2021. All cases had intestinal ganglioneuromatosis that could have prompted an earlier diagnosis. Population wide newborn genomic screening for rare diseases is on the horizon. We propose that MEN2B genomic screening should be included in newborn screening programs and that careful exclusion of intestinal ganglioneuromatosis would allow earlier identification leading to improved clinical outcomes. (Copyright © 2024 by the American Academy of Pediatrics.) |
| المشرفين على المادة: | 0 (Proto-Oncogene Mas) 0 (MAS1 protein, human) |
| SCR Disease Name: | Thyroid cancer, medullary |
| تواريخ الأحداث: | Date Created: 20240816 Date Completed: 20240831 Latest Revision: 20240831 |
| رمز التحديث: | 20240901 |
| DOI: | 10.1542/peds.2022-059517 |
| PMID: | 39148481 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1098-4275 |
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| DOI: | 10.1542/peds.2022-059517 |