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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome

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Autor(es):
Basso, Tatiane R. [1] ; Villacis, Rolando A. R. [1] ; Canto, Luisa M. [1] ; Alves, Vinicius M. F. [1] ; Lapa, Rainer M. L. [2] ; Nobrega, Amanda F. [3] ; Achatz, Maria I. [3] ; Rogatto, Silvia R. [1, 2]
Número total de Autores: 8
Afiliação do(s) autor(es):
[1] AC Camargo Canc Ctr, Int Res Ctr CIPE, Sao Paulo - Brazil
[2] Sao Paulo State Univ UNESP, Fac Med, Dept Urol, Botucatu, SP - Brazil
[3] AC Camargo Canc Ctr, Dept Oncogenet, Sao Paulo - Brazil
Número total de Afiliações: 3
Tipo de documento: Artigo Científico
Fonte: CANCER GENETICS; v. 208, n. 6, p. 341-344, JUN 2015.
Citações Web of Science: 2
Resumo

Li-Fraumeni syndrome (LFS) is a hereditary disorder that predisposes patients to several types of cancer and is associated with TP53 germline mutations. Turner syndrome (TS) is one of the most common aneuploidies in women. Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare. Herein, we describe a patient with a 45,X/46,XX karyotype with no classic phenotype of TS. She presented with a clinical diagnosis of Li-Fraumeni-like syndrome (LFL), showing papillary thyroid carcinoma and fibrosarcoma of the left flank, and had no TP53 germline mutations. Genome-wide analysis of copy number variations (CNVs) was assessed in DNA from peripheral blood cells and saliva. A total of 109 rare CNVs in the blood cells, including mosaic loss of the X chromosome (76% of cells), were identified. In saliva, three rare CNVs were detected, all of them were also detected in the blood cells: loss of 8q24.11 (EXT1), gain of 16q24.3 (PRDM7 and GASS), and the mosaic loss of the X chromosome (50% of cells). Results of conventional G-banding confirmed the 45,X/46,XX karyotype. Surprisingly, the patient presented with an apparently normal phenotype. The PROM and GAS8 genes are potential candidates to be associated with the risk of developing cancer in this LF/TS patient. (AU)

Processo FAPESP: 08/57887-9 - Instituto Nacional de Oncogenômica
Beneficiário:Luiz Paulo Kowalski
Linha de fomento: Auxílio à Pesquisa - Temático