title: Chronic lymphocytic leukemia in a child: a challenging diagnosis in pediatric oncology practice.
abstract: Chronic lymphocytic leukemia/lymphoma (CLL) is an extremely rare disease during childhood. We report a 16-year-old female who presented with lymphadenopathies and she was diagnosed as T cell lymphoblastic lymphoma. Her chemotherapy response was minimal and clinical findings were unusual. Therefore, her biopsy specimen was re-examined and diagnosis was changed to CLL. Chemotherapy protocol including fludarabine, cyclophosphamide, rituximab was administrated and good response was observed. In our patient deletion at 1q21.2 region that includes aryl hydrocarbon receptor nuclear translocator (ARNT) gene was detected via comparative genomic hybridization method. ARNT gene deletion may be a new mutation in chronic lymphocytic leukemia development.
authors.affiliation: Department of Pediatric Hematology and Oncology, Ankara Children's Hematology Oncology Education and Research Hospital, Ankara, Turkey.
authors.forename: Hacı Ahmet
authors.initials: HA
authors.lastname: Demir
authors.forename: Turan
authors.initials: T
authors.lastname: Bayhan
authors.forename: Ayşegül
authors.initials: A
authors.lastname: Üner
authors.forename: Olcay
authors.initials: O
authors.lastname: Kurtulan
authors.forename: Esra
authors.initials: E
authors.lastname: Karakuş
authors.forename: Suna
authors.initials: S
authors.lastname: Emir
authors.forename: Derya
authors.initials: D
authors.lastname: Özyörük
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D000293:Adolescent; D058846:Antibodies, Monoclonal, Murine-Derived / Q000008:administration & dosage; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D051784:Aryl Hydrocarbon Receptor Nuclear Translocator / Q000235:genetics; D003520:Cyclophosphamide / Q000008:administration & dosage; D005260:Female; D017353:Gene Deletion; D006801:Humans; D015461:Leukemia, Prolymphocytic, T-Cell / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D000069283:Rituximab; D016896:Treatment Outcome; D014740:Vidarabine / Q000008:administration & dosage / Q000031:analogs & derivatives
chemical_list: C497396:ARNT protein, human; D058846:Antibodies, Monoclonal, Murine-Derived; D051784:Aryl Hydrocarbon Receptor Nuclear Translocator; D000069283:Rituximab; D003520:Cyclophosphamide; D014740:Vidarabine; C024352:fludarabine
keywords: ARNT mutation; children; chronic immunodeficiency; lymphadenopathy; lymphocytic leukemia; lymphocytosis