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Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma.
Chakraborty, Rikhia; Hampton, Oliver A; Abhyankar, Harshal; Zinn, Daniel J; Grimes, Amanda; Skull, Brooks; Eckstein, Olive; Mahmood, Nadia; Wheeler, David A; Lopez-Terrada, Dolores; Peters, Tricia L; Hicks, John M; Elghetany, Tarek; Krance, Robert; Poulikakos, Poulikos I; Merad, Miriam; McClain, Kenneth L; Allen, Carl E; Parsons, Donald W.
Afiliação
  • Chakraborty R; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Hampton OA; Department of Pediatrics, Division of Pediatric Hematology-Oncology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Abhyankar H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zinn DJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Grimes A; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Skull B; Department of Pediatrics, Division of Pediatric Hematology-Oncology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Eckstein O; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Mahmood N; Department of Pediatrics, Division of Pediatric Hematology-Oncology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wheeler DA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Lopez-Terrada D; Department of Pediatrics, Division of Pediatric Hematology-Oncology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Peters TL; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Hicks JM; Department of Pediatrics, Division of Pediatric Hematology-Oncology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Elghetany T; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Krance R; Department of Pediatrics, Division of Pediatric Hematology-Oncology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Poulikakos PI; Body and Nuclear Radiology Sections, Texas Children's Hospital, Houston, TX 77030, USA.
  • Merad M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • McClain KL; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Allen CE; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Parsons DW; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.
Oncotarget ; 8(28): 46065-46070, 2017 Jul 11.
Article em En | MEDLINE | ID: mdl-28512266
Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that is usually benign and self-limiting. We present a case of atypical, aggressive JXG harboring a novel mitogen-activated protein kinase (MAPK) pathway mutation in the MAPK1 gene, which encodes mitogen-activated protein kinase 1 or extracellular signal-regulated 2 (ERK2). Our analysis revealed that the mutation results in constitutive ERK activation that is resistant to BRAF or MEK inhibitors but susceptible to an ERK inhibitor. These data highlight the importance of identifying specific MAPK pathway alterations as part of the diagnostic workup for patients with histiocytic disorders rather than initiating empiric treatment with MEK inhibitors.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Xantogranuloma Juvenil / Proteína Quinase 1 Ativada por Mitógeno / Histiócitos / Linfonodos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Xantogranuloma Juvenil / Proteína Quinase 1 Ativada por Mitógeno / Histiócitos / Linfonodos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article