title: Hairy cell leukaemia-variant: Disease features and treatment.
abstract: Hairy cell leukaemia-variant (HCL-V) is a rare B-cell malignancy that affects elderly males and manifests with splenomegaly, lymphocytosis and cytopenias without monocytopenia. The neoplastic cells have morphological features of prolymphocytes and hairy cells. The immunophenotype is that of a clonal B-cell CD11c and CD103 positive but, unlike classical HCL, CD25, CD123 and CD200 negative. The spleen histology is similar to classical HCL and the pattern of bone marrow infiltration is interstitial and/or intrasinusoidal. Mutations of the immunoglobulin heavy chain (IGVH) are seen in two thirds of cases with a preferential VH4-34 family usage. There is no distinct chromosomal abnormality but del17p13 and mutations of the TP53 gene are frequent. Mutations in the MAP2K1 gene have been documented in half of the cases. The course is chronic with median survivals of 7-9 years. Patients are refractory to purine analogues and the most effective therapy is the combination of 2-chlorodeoxyadenosine and Rituximab.
authors.affiliation: Hematopathology Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. Electronic address: estella.matutes.juan@gmail.com.
authors.forename: Estella
authors.initials: E
authors.lastname: Matutes
authors.affiliation: Department of Hematology, Hospital Clínic, Barcelona, Spain. Electronic address: smartine1@clinic.ub.es.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Martínez-Trillos
authors.affiliation: Hematopathology Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. Electronic address: ecampo@clinic.ub.es.
authors.forename: Elias
authors.initials: E
authors.lastname: Campo
mesh_terms: D000368:Aged; D015703:Antigens, CD / Q000235:genetics / Q000276:immunology; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001402:B-Lymphocytes / Q000187:drug effects / Q000276:immunology / Q000473:pathology; D001853:Bone Marrow / Q000187:drug effects / Q000276:immunology / Q000473:pathology; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D017338:Cladribine / Q000627:therapeutic use*; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics / Q000276:immunology; D007943:Leukemia, Hairy Cell / Q000188:drug therapy* / Q000235:genetics / Q000401:mortality / Q000473:pathology; D008218:Lymphocytosis / Q000188:drug therapy* / Q000235:genetics / Q000401:mortality / Q000473:pathology; D048369:MAP Kinase Kinase 1 / Q000235:genetics / Q000276:immunology; D008297:Male; D009154:Mutation; D000069283:Rituximab / Q000627:therapeutic use*; D013154:Spleen / Q000187:drug effects / Q000276:immunology / Q000473:pathology; D013163:Splenomegaly / Q000188:drug therapy* / Q000235:genetics / Q000401:mortality / Q000473:pathology; D016019:Survival Analysis; D016159:Tumor Suppressor Protein p53 / Q000235:genetics / Q000276:immunology
chemical_list: D015703:Antigens, CD; D000970:Antineoplastic Agents; D007143:Immunoglobulin Heavy Chains; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D017338:Cladribine; D000069283:Rituximab; D048369:MAP Kinase Kinase 1; C482125:MAP2K1 protein, human
keywords: Diagnosis; Gene mutations; Hairy cell leukaemia variant; Immunophenotype; MAP2K1; TP53; Treatment