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Case Report: Precision Medicine Target Revealed by In Vitro Modeling of Relapsed, Refractory Acute Lymphoblastic Leukemia From a Child With Neurofibromatosis.
Heatley, Susan L; Page, Elyse C; Eadie, Laura N; McClure, Barbara J; Rehn, Jacqueline; Yeung, David T; Osborn, Michael; Revesz, Tamas; Kirby, Maria; White, Deborah L.
Afiliación
  • Heatley SL; Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia.
  • Page EC; Faculty of Health & Medical Science, University of Adelaide, Adelaide, SA, Australia.
  • Eadie LN; Australian & New Zealand Children's Haematology/Oncology Group, Clayton, VIC, Australia.
  • McClure BJ; Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia.
  • Rehn J; Faculty of Science, University of Adelaide, Adelaide, SA, Australia.
  • Yeung DT; Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia.
  • Osborn M; Faculty of Health & Medical Science, University of Adelaide, Adelaide, SA, Australia.
  • Revesz T; Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia.
  • Kirby M; Faculty of Health & Medical Science, University of Adelaide, Adelaide, SA, Australia.
  • White DL; Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia.
Front Oncol ; 12: 851572, 2022.
Article en En | MEDLINE | ID: mdl-35515133
Children with neurofibromatosis have a higher risk of developing juvenile myelomonocytic leukemia and acute myeloid leukemia, but rarely develop B-cell acute lymphoblastic leukemia (B-ALL). Through in-vitro modeling, a novel NF1 p.L2467 frameshift (fs) mutation identified in a relapsed/refractory Ph-like B-ALL patient with neurofibromatosis demonstrated cytokine independence and increased RAS signaling, indicative of leukemic transformation. Furthermore, these cells were sensitive to the MEK inhibitors trametinib and mirdametinib. Bi-allelic NF1 loss of function may be a contributing factor to relapse and with sensitivity to MEK inhibitors, suggests a novel precision medicine target in the setting of neurofibromatosis patients with B-ALL.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Oncol Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Oncol Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Suiza