title: p16 inactivation associated with aggressive clinical course and fatal outcome in TEL/AML1-positive acute lymphoblastic leukemia.
abstract: The authors describe a 7-year-old boy with TEL/AML1-positive pre-B acute lymphoblastic leukemia, with hemizygous 9p21 deletion at presentation and no p16(INK4A) protein expression. Despite an initial response to a standard chemotherapy regimen, the patient suffered two hematologic relapses and died 34 months after diagnosis. The authors discuss the possibility that complete p16(INK4A) gene inactivation may adversely modify the prognostic significance of TEL/AML1 fusion in childhood acute lymphoblastic leukemia, and present evidence from clinical and in vitro observations in favor of this assumption.
authors.affiliation: Hematology Laboratory, G. Gennimatas Athens Regional General Hospital, Athens, Greece. sipapadh@hol.gr
authors.forename: Stefanos I
authors.initials: SI
authors.lastname: Papadhimitriou
authors.forename: S
authors.initials: S
authors.lastname: Polychronopoulou
authors.forename: A A
authors.initials: AA
authors.lastname: Tsakiridou
authors.forename: G
authors.initials: G
authors.lastname: Androutsos
authors.forename: G S
authors.initials: GS
authors.lastname: Paterakis
authors.forename: F
authors.initials: F
authors.lastname: Athanassiadou
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage / Q000627:therapeutic use; D001215:Asparaginase / Q000008:administration & dosage; D016026:Bone Marrow Transplantation; D002648:Child; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003131:Combined Modality Therapy; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000032:analysis / Q000172:deficiency; D003520:Cyclophosphamide / Q000008:administration & dosage; D003561:Cytarabine / Q000008:administration & dosage; D003630:Daunorubicin / Q000008:administration & dosage; D017809:Fatal Outcome; D017353:Gene Deletion; D019942:Genes, p16; D006801:Humans; D008297:Male; D015122:Mercaptopurine / Q000008:administration & dosage; D008727:Methotrexate / Q000008:administration & dosage; D009363:Neoplasm Proteins / Q000032:analysis / Q000172:deficiency; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000235:genetics* / Q000628:therapy; D011241:Prednisone / Q000008:administration & dosage; D011379:Prognosis; D012008:Recurrence; D014750:Vincristine / Q000008:administration & dosage; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D001215:Asparaginase; D050676:Core Binding Factor Alpha 2 Subunit; D019941:Cyclin-Dependent Kinase Inhibitor p16; D003520:Cyclophosphamide; D003561:Cytarabine; D003630:Daunorubicin; D015122:Mercaptopurine; D008727:Methotrexate; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D011241:Prednisone; D014750:Vincristine; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein