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Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis.
Renzi, Samuele; Langenberg-Ververgaert, Karin; Fuligni, Fabio; Ryan, Anne Louise; Davidson, Scott; Anderson, Nathaniel; Hayes, Reid; Hopyan, Sevan; Gerstle, Justin T; Shago, Mary; Chami, Rose; Malkin, David; Shlien, Adam; Villani, Anita; Gupta, Abha A.
Afiliação
  • Renzi S; a Division of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics , University of Toronto , Toronto , ON , Canada.
  • Langenberg-Ververgaert K; a Division of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics , University of Toronto , Toronto , ON , Canada.
  • Fuligni F; b Program in Genetics and Genome Biology , The Hospital for Sick Children , Toronto , ON , Canada.
  • Ryan AL; a Division of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics , University of Toronto , Toronto , ON , Canada.
  • Davidson S; b Program in Genetics and Genome Biology , The Hospital for Sick Children , Toronto , ON , Canada.
  • Anderson N; b Program in Genetics and Genome Biology , The Hospital for Sick Children , Toronto , ON , Canada.
  • Hayes R; b Program in Genetics and Genome Biology , The Hospital for Sick Children , Toronto , ON , Canada.
  • Hopyan S; c Division of Orthopedic surgery , The Hospital for Sick Children , Toronto , ON , Canada.
  • Gerstle JT; d Division of General and Thoracic Surgery , The Hospital for Sick Children , Toronto , ON , Canada.
  • Shago M; e Department of Paediatric Laboratory Medicine , The Hospital for Sick Children , Toronto , ON , Canada.
  • Chami R; f Department of Laboratory Medicine and Pathobiology , University of Toronto , Toronto , ON , Canada.
  • Malkin D; f Department of Laboratory Medicine and Pathobiology , University of Toronto , Toronto , ON , Canada.
  • Shlien A; a Division of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics , University of Toronto , Toronto , ON , Canada.
  • Villani A; b Program in Genetics and Genome Biology , The Hospital for Sick Children , Toronto , ON , Canada.
  • Gupta AA; a Division of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics , University of Toronto , Toronto , ON , Canada.
Pediatr Hematol Oncol ; 35(7-8): 407-414, 2018.
Article em En | MEDLINE | ID: mdl-30806137
ABSTRACT
Rhabdomyosarcoma (RMS) represents the most common soft tissue sarcoma in the pediatric age group. While RMS has been traditionally classified on the basis of its histological appearance (with embryonal and alveolar being most common), it is now clear that the PAX-FOXO1 fusion product drives prognosis. We report here a case of pelvic embryonal RMS in a 3-month-old male who was subsequently found to have developed brain metastases during the course of chemotherapy. Cytogenetic analysis of the brain metastases at the time of autopsy as well as next-generation sequencing analysis revealed a reciprocal translocation involving the SH3 domain containing ring finger 3 gene (SH3RF3, on chromosome 2q13) and the Lipase C gene (LIPC, on chromosome 15q21.3). Due to the poor quality of the pretreatment and postresection samples, cytogenetics and NGS analysis looking for the presence of this balanced translocation in these specimens could not be performed. To the authors' knowledge, this translocation has never been described in RMS. Further studies are needed to determine the biological and clinical implications of this novel translocation.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 2 / Cromossomos Humanos Par 15 / Rabdomiossarcoma Embrionário Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 2 / Cromossomos Humanos Par 15 / Rabdomiossarcoma Embrionário Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article