Multinodular Goiter in children: an important pointer to a germline DICER1 mutation.
نویسندگان
چکیده
1. Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children; 2. School of Paediatrics and Child Health, University of Western Australia; 3. Department of Pathology, Princess Margaret Hospital for Children; 4. Department of Diagnostic Imaging, Princess Margaret Hospital for Children; 5. Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals; 6. Institute for Immunology and Infectious Diseases, Murdoch University; 7. Telethon Institute for Child Health Research, Perth, WA; 8. Minneapolis, MN, USA; 9. Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC
منابع مشابه
A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report
INTRODUCTION Germ-line mutations in the micro-ribonucleic acid processing gene DICER1 have been shown to predispose to a subset of benign tumors susceptible to malignant transformation, including ovarian Sertoli-Leydig cell tumor, nontoxic multinodular goiter, multilocular cystic nephroma and pleuropulmonary blastoma, which can occur in children and young adults. This may be due to reduced Dcr-...
متن کاملDICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
CONTEXT Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor of the ovary (SLCT). Germline mutations in DICER1, a gene that cod...
متن کاملA Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter
BACKGROUND A germline mutation of KEAP1 gene was reported as a novel genetic abnormality associated with familial multinodular goiter. That report was limited, and the pathogenic features were not well established. PATIENT FINDINGS We report a 47-year-old Japanese woman who presented with hyperthyroidism and a large multinodular goiter. The family history was notable for a paternal history of...
متن کاملOvarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.
Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These "hotspot" mutations affect the catalytic activity of the DICER1 ribonu...
متن کاملLack of germline A339V mutation in thyroid transcription factor-1 (TITF-1/NKX2.1) gene in familial papillary thyroid cancer
Thyroid cancer may have a familial predisposition but a specific germline alteration responsible for the disease has not been discovered yet. We have shown that familial papillary thyroid cancer (FPTC) patients have an imbalance in telomere-telomerase complex with short telomeres and increased telomerase activity. A germline mutation (A339V) in thyroid transcription factor-1 has been described ...
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ورودعنوان ژورنال:
- The Journal of clinical endocrinology and metabolism
دوره 99 6 شماره
صفحات -
تاریخ انتشار 2014