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Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation.
Bentel, Jacqueline May; Thomas, Marc Andrew; Rodgers, Jamie John; Arooj, Mahreen; Gray, Elin; Allcock, Richard; Fermoyle, Soraya; Mancera, Ricardo Luis; Cannell, Paul; Parry, Jeremy.
Afiliación
  • Bentel JM; Anatomical Pathology, PathWest Laboratory Medicine, Fiona Stanley Hospital, Murdoch, Australia.
  • Thomas MA; Anatomical Pathology, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Australia.
  • Rodgers JJ; Anatomical Pathology, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Australia.
  • Arooj M; PathWest Molecular Anatomical Pathology, QEII Medical Centre, Nedlands, Australia.
  • Gray E; Anatomical Pathology, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Australia.
  • Allcock R; School of Biomedical Sciences, Curtin Health Innovation Research Institute and Curtin Institute for Computation, Curtin University, Perth, Australia.
  • Fermoyle S; School of Medical and Health Sciences, Edith Cowan University, Joondalup, Australia.
  • Mancera RL; Translational Cancer Pathology Laboratory, Pathwest Laboratory Medicine, QEII Medical Centre, Nedlands, Australia.
  • Cannell P; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.
  • Parry J; Anatomical Pathology, PathWest Laboratory Medicine, Fiona Stanley Hospital, Murdoch, Australia.
BMJ Case Rep ; 20172017 Apr 28.
Article en En | MEDLINE | ID: mdl-28455460
BRAF mutation testing to determine eligibility for treatment with vemurafenib was performed on archival skin lesions of a 54-year-old patient diagnosed with Erdheim-Chester disease (ECD) in 1999. Sanger sequencing of DNA extracted from a 2008 skin lesion identified two non-contiguous base substitutions in BRAF, which were shown by next-generation sequencing (NGS) to be located in the same allele. Due to its long-standing duration, molecular evolution of disease was possible; however, both Sanger and NGS of a 2000 skin lesion were unsuccessful due to the poor quality of DNA. Finally, droplet digital PCR using a probe specific for this novel mutation detected the complex BRAF mutation in both the 2000 and 2008 lesions, indicating this case to be ECD with a novel underlying BRAF p.Thr599_Val600delinsArgGlu mutation. Although well at present, molecular modelling of the mutant BRAF suggests suboptimal binding of vemurafenib and hence reduced therapeutic effectiveness.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Histiocitosis de Células de Langerhans / Enfermedad de Erdheim-Chester / Proteínas Proto-Oncogénicas B-raf / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Middle aged Idioma: En Revista: BMJ Case Rep Año: 2017 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Histiocitosis de Células de Langerhans / Enfermedad de Erdheim-Chester / Proteínas Proto-Oncogénicas B-raf / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Middle aged Idioma: En Revista: BMJ Case Rep Año: 2017 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido