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Literature DB >> 21934104

Familial pediatric endocrine tumors.

Sarinda Millar¹, Lisa Bradley, Deirdre E Donnelly, Dennis Carson, Patrick J Morrison.

Abstract

Pediatric endocrine tumors are rare but have fairly characteristic presentations. We describe an approach to diagnosis and management of five of the most common presentations including gonadoblastoma, paraganglioma, medullary thyroid cancer, adrenal cancer, and pituitary adenoma. Genetic testing can aid in the early detection and prevention and management of tumors in patients and in other family members.

Entities: Disease Mutation Species

Mesh：

Year: 2011 PMID： 21934104 PMCID： PMC3228066 DOI： 10.1634/theoncologist.2011-0120

Source DB: PubMed Journal: Oncologist ISSN： 1083-7159

27 in total

1. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study.

Authors: C H Gravholt; J Fedder; R W Naeraa; J Müller
Journal: J Clin Endocrinol Metab Date: 2000-09 Impact factor: 5.958

2. Pituitary adenoma predisposition caused by germline mutations in the AIP gene.

Authors: Outi Vierimaa; Marianthi Georgitsi; Rainer Lehtonen; Pia Vahteristo; Antti Kokko; Anniina Raitila; Karoliina Tuppurainen; Tapani M L Ebeling; Pasi I Salmela; Ralf Paschke; Sadi Gündogdu; Ernesto De Menis; Markus J Mäkinen; Virpi Launonen; Auli Karhu; Lauri A Aaltonen
Journal: Science Date: 2006-05-26 Impact factor: 47.728

3. The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status.

Authors: Tabib Dabir; Steven J Hunter; Colin F J Russell; Damien McCall; Patrick J Morrison
Journal: Fam Cancer Date: 2006 Impact factor: 2.375

Familial pediatric endocrine tumors.

1. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study.

2. Pituitary adenoma predisposition caused by germline mutations in the AIP gene.

3. The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status.

Review 4. Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

5. Thyroidectomy for medullary carcinoma in MEN 2A: positive genetic screening as the sole indicator for surgery.

6. A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.

Review 7. The clinical, pathological, and genetic features of familial isolated pituitary adenomas.

8. A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors.

9. Giants of the British Isles.

10. An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age.

1. Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.

2. Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events.

3. Epidemiology, clinical features, and genetics of multiple endocrine neoplasia type 2B in a complete population.

4. Co-existent Epicardial Paraganglioma and Anterior Mediastinal Thymoma.

5. Much more than anxiety...

Review 6. Selected Topics in the Pathology of the Thyroid and Parathyroid Glands in Children and Adolescents.