A differential diagnosis of inherited endocrine tumors and their tumor counterparts

Autor(es)

Toledo, Sergio P. A. ^[1] ; Lourenco, Jr., Delmar M. ^[1] ; Toledo, Rodrigo A. ^[2]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Fac Med, Endocrine Genet Unit LIM 25, Div Endocrinol, Sao Paulo - Brazil

^[2] Univ Texas Hlth Sci Ctr San Antonio, San Antonio, TX 78229 - USA

• Tipo de documento: Artigo de Revisão
• Fonte: Clinics; v. 68, n. 7, p. 1039-1056, 2013.
• Citações Web of Science: 8

Resumo

Inherited endocrine tumors have been increasingly recognized in clinical practice, although some difficulties still exist in differentiating these conditions from their sporadic endocrine tumor counterparts. Here, we list the 12 main topics that could add helpful information and clues for performing an early differential diagnosis to distinguish between these conditions. The early diagnosis of patients with inherited endocrine tumors may be performed either clinically or by mutation analysis in at-risk individuals. Early detection usually has a large impact in tumor management, allowing preventive clinical or surgical therapy in most cases. Advice for the clinical and surgical management of inherited endocrine tumors is also discussed. In addition, recent clinical and genetic advances for 17 different forms of inherited endocrine tumors are briefly reviewed. (AU)

• Processo FAPESP: 09/15386-6 - Análise dos genes CDKN1A, CDKN1B, CDKN2B e CDKN2C, nas neoplasias endócrinas múltiplas tipo 1 e 2.
• Beneficiário: Rodrigo de Almeida Toledo
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado
• Processo FAPESP: 08/58552-0 - Neoplasia endócrina múltipla tipo 1 (NEM1): análises de mutações germinativas nos genes supressores de tumor MEN1, CDKN1B/p27Kip1 e AIP; estudo de expressão gênica e proteica e; caracterização clínica
• Beneficiário: Delmar Muniz Lourenço Jr
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado