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Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy / 대한흉부외과학회지
The Korean Journal of Thoracic and Cardiovascular Surgery ; : 376-379, 2019.
Artigo em Inglês | WPRIM | ID: wpr-761870
ABSTRACT
Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with LDS and B-cell-lymphoma. After completion of chemotherapy and complete remission, an elective valve-sparing aortic root replacement (using the David-V method) was performed. Due to the positive family history, pre-operative genetic counseling was conducted, and revealed LDS with a TGFBR1 (transforming growth factor beta receptor type I) mutation in 6 probands of the family, albeit in 1 of them posthumously. This missense mutation has been previously described in relation to aortic dissection, but a causative relationship to malignancy has so far neither been proposed nor proven.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linfoma de Células B / Aneurisma da Aorta Torácica / Neoplasias Hematológicas / Mutação de Sentido Incorreto / Tratamento Farmacológico / Síndrome de Loeys-Dietz / Aconselhamento Genético Limite: Humanos Idioma: Inglês Revista: The Korean Journal of Thoracic and Cardiovascular Surgery Ano de publicação: 2019 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linfoma de Células B / Aneurisma da Aorta Torácica / Neoplasias Hematológicas / Mutação de Sentido Incorreto / Tratamento Farmacológico / Síndrome de Loeys-Dietz / Aconselhamento Genético Limite: Humanos Idioma: Inglês Revista: The Korean Journal of Thoracic and Cardiovascular Surgery Ano de publicação: 2019 Tipo de documento: Artigo