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Acute Lymphoblastic Leukemia With INPP5D-ABL1 Fusion Responds to Imatinib Treatment.
Poukka, Markus; Lund-Aho, Tiina; Raittinen, Päivi; Nikkilä, Atte; Kivinen, Katri; Lundán, Tuija; Porkka, Kimmo; Lohi, Olli.
Afiliación
  • Poukka M; Tampere Center for Child Health Research, University of Tampere and Tampere University Hospital.
  • Lund-Aho T; Laboratory of Clinical Genetics, Fimlab Laboratories, Tampere.
  • Raittinen P; Tampere Center for Child Health Research, University of Tampere and Tampere University Hospital.
  • Nikkilä A; Tampere Center for Child Health Research, University of Tampere and Tampere University Hospital.
  • Kivinen K; Laboratory of Molecular Hematology and Pathology, Tyks Laboratory Division, Turku.
  • Lundán T; Laboratory of Molecular Hematology and Pathology, Tyks Laboratory Division, Turku.
  • Porkka K; Department of Hematology, Hematology Research Unit Helsinki, University of Helsinki and Helsinki University Central Hospital Cancer Center, Helsinki, Finland.
  • Lohi O; Tampere Center for Child Health Research, University of Tampere and Tampere University Hospital.
J Pediatr Hematol Oncol ; 41(7): e481-e483, 2019 10.
Article en En | MEDLINE | ID: mdl-30045148
We describe a patient with Down syndrome whose precursor B-cell acute lymphoblastic leukemia cells expressed INPP5D-ABL1 fusion gene that resulted in a reciprocal chromosome translocation t(2;9)(q27;q34). The fusion gene was present as a small subclone in the primary disease but was first identified at relapse when the subclone had expanded into a major clone. At relapse, the patient responded poorly to conventional induction chemotherapy but a transient morphologic remission was achieved after administration of imatinib monotherapy. This case demonstrates a pathway to relapse in a Down syndrome patients with acute lymphoblastic leukemia through a rare fusion event. It highlights the significance of minor subclonal events in therapy resistance and the opportunity provided for targeted therapy.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucemia-Linfoma Linfoblástico de Células Precursoras B / Proteínas Proto-Oncogénicas c-abl / Mesilato de Imatinib / Fosfatidilinositol-3,4,5-Trifosfato 5-Fosfatasas / Antineoplásicos Tipo de estudio: Prognostic_studies Límite: Adolescent / Humans Idioma: En Revista: J Pediatr Hematol Oncol Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucemia-Linfoma Linfoblástico de Células Precursoras B / Proteínas Proto-Oncogénicas c-abl / Mesilato de Imatinib / Fosfatidilinositol-3,4,5-Trifosfato 5-Fosfatasas / Antineoplásicos Tipo de estudio: Prognostic_studies Límite: Adolescent / Humans Idioma: En Revista: J Pediatr Hematol Oncol Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos