title: Mutational analysis of CASP10 gene in acute leukaemias and multiple myelomas.
abstract: OBJECTIVE
  Deregulation of apoptosis is one of the hallmarks of cancers. Inactivation of cancer cell apoptosis by somatic mutations has been reported in several cancers. Caspase-10 activation is important in the initiation phase of apoptosis. The aim of this study was to explore whether CASP10 gene that encodes caspase-10 is somatically mutated in acute adulthood leukaemias and multiple myelomas (MMs).
  
  
  METHODS
  We analysed the entire coding region and all splice sites of CASP10 gene for the detection of somatic mutations in 60 acute leukaemias (25 acute myelogenous leukaemias, 35 acute lymphoblastic leukaemias) and 22 multiple myelomas by a single-strand conformation polymorphism assay.
  
  
  RESULTS
  Overall, we found two CASP10 mutations in the cancers (2/82; 2.4%). One mutation [c.854T>C (pLeu285Pro)] was detected in a T-acute lymphoblastic leukaemia (T-ALL) (1/13 T-ALL; 7.7%). The other mutation [c.61C>T (p.Arg21Cys)] was found in an MM (1/22 MM; 4.5%). The mutations were identified in the coding regions of the death effector domain (p.Arg21Cys) and the p17 large protease subunit (pLeu285Pro). We observed both of the T-ALL and the MM with the CASP10 mutations well expressed the mutant CAS10 at mRNA level.
  
  
  CONCLUSIONS
  Although our data indicate that somatic mutation of CASP10 is not common in T-ALL and MM, the data suggest a possibility that CASP10 mutation might contribute to the pathogenesis of factions of T-ALL and MM.
authors.affiliation: Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Min Sung
authors.initials: MS
authors.lastname: Kim
authors.forename: Ji Eun
authors.initials: JE
authors.lastname: Oh
authors.forename: Chang Ki
authors.initials: CK
authors.lastname: Min
authors.forename: Seok
authors.initials: S
authors.lastname: Lee
authors.forename: Nak Gyun
authors.initials: NG
authors.lastname: Chung
authors.forename: Nam Jin
authors.initials: NJ
authors.lastname: Yoo
authors.forename: Sug Hyung
authors.initials: SH
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017209:Apoptosis / Q000235:genetics; D053455:Caspase 10 / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D055815:Young Adult
chemical_list: D053455:Caspase 10; C506438:CASP10 protein, human