FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1599814341> ?p ?o ?g. }

• W1599814341 endingPage "674" @default.
• W1599814341 startingPage "672" @default.
• W1599814341 abstract "Infant acute lymphoblastic leukaemia (ALL) is relatively rare, occurring in approximately 2·5–5% of cases of childhood ALL (Biondi et al, 2000). Infant ALLs are much more likely to present with high leucocyte counts, hepatosplenomegaly and overt central nervous system (CNS) diseases (Taki et al, 1996). T cell phenotype is much less common in infants, while myeloid antigen co-expression and the absence of CD10 expression are more frequent in infants than in older children with ALL. When molecular techniques [such as fluorescence in situ hybridization (FISH) or Southern blot analysis] are used in addition to karyotype, MLL gene rearrangements (MLL-R) are found in 70–80% of infant ALL compared with only 2–4% of older children with ALL (Taki et al, 1996; Biondi et al, 2000). Thus, infant ALL appears to be biologically distinct from the disease in older children (more than 1 year old). In this regard, recent reports of somatic mutations of the CBL proto-oncogene in myeloid neoplasms are intriguing, because these CBL mutations were shown to result in aberrant tyrosine kinase signalling, which also leads to activation of RAS signalling pathways. So far, we and others have reported that CBL mutations occur in a variety of myeloid neoplasms, including de novo acute myeloid leukaemia (AML) (Caligiuri et al, 2007), myelodysplastic syndrome (MDS), and myeloproliferative neoplasm, especially in chronic myelomonocytic leukaemia (CMML) (Sanada et al, 2009), and juvenile myelomonocytic leukaemia (JMML) (Shiba et al, 2010). The importance of CBL mutations regarding leukaemogenesis is substantially increased. Recently, we found CBL mutation in therapy-related AML with MLL-R (Shiba et al, 2011). Interestingly, the MLL-CBL fusion gene has been reported in a de novo AML case (Fu et al, 2003), and this prompted us to search for possible CBL mutations in infant ALL with MLL-R. Because CBL mutations thus far reported were almost all clustered within exons 8–9 that encode Linker/RING finger domains (Caligiuri et al, 2007; Sanada et al, 2009; Shiba et al, 2010), we confined our mutation analysis to these exons, in which polymerase chain reaction-amplified exons 8–9 were subjected to direct sequencing using an ABI PRISM 310 Genetic Analyser (Applied Biosystems, Branchburg, NJ, USA). The study adhered to the principles of the Helsinki Declaration, and was conducted under the regulations enacted by the Ethics Board of Gunma Children’s Medical Centre. CBL gene analysis was performed in 41 infant ALL patients in which MLL-R was found in 33 patients (80·5%), including 15 patients with t(4;11)(q21;q23), 4 with t(9;11)(p22;q23) and 5 with t(11;19)(q23;p13.3). Median age at diagnosis was 4·7 months (range, 0–12 months). We also performed CBL gene mutation analysis in 28 B cell precursor (BCP)-ALL patients (age range, 1–14 years). Heterozygous mutations of the CBL gene were identified in 2 (4·9%) of 41 infant ALL patients, but not in older children with BCP-ALL. These were located in exon 8 (Fig 1). One patient was a 3-month-old female with t(4;11)(q21;q23) and the other patient was a 6-month-old male with t(11;19)(q23;p13.3). They were registered and treated on two Japanese infant leukaemia protocols, MLL96 and MLL98 respectively (Isoyama et al, 2002; Kosaka et al, 2004). Although strong association between CBL mutations and 11q-acquired uniparental disomy (aUPD) has been reported (Sanada et al, 2009), we did not perform the single nucleotide polymorphism array analysis due to lack of DNA. Identification of CBL mutations. Heterozygous mutations of the CBL gene were identified in Patients 7 and 21. MLL-R are more frequent in younger infants; up to 90% of infant ALL less than 6 months old at diagnosis have detectable MLL-R compared with 30–50% of infant ALL aged 6–12 months (Taki et al, 1996). MLL-R ALL has a characteristic gene expression profile that significantly differs from that of non-MLL-R BCP-ALL and of AML, confirming that MLL-R ALL is a biologically unique leukaemia subtype. Thus, the distinctive presenting features and clinical behaviour of infant ALL appear to be primarily due to the high frequency of MLL-R in this age group. However, outcome data comparing infant and non-infant patients with MLL-R suggest that there may be other factors which impact the prognosis of infant ALL. Both of the patients with CBL mutations were diagnosed before 6 months of age. In our previous report, all of three cases with CBL mutation developed JMML before 4 months of age (Shiba et al, 2010). These data suggested that CBL mutation may have a strong association with very early onset disease. CBL mutations have been reported as germline mutations in JMML (Niemeyer et al, 2010). Unfortunately, we could not investigate whether the mutations in our cases were germline mutations or not, because somatic cells were not available. CBL mutations have been found in approximately 5% of 2000 samples from patients with myeloid neoplasms, including AML transformed from MDS. Gene aberrations in addition to MLL-R have rarely been reported in infant ALL. No reports of ALL with CBL mutations have so far been reported, suggesting that the pathogenesis of infant ALL is different from paediatric or adult ALL. To our knowledge, this is the first report of infant ALL patients with 11q23 translocation/MLL-R and CBL mutations. The present study suggests that alterations of CBL gene and MLL-R may cooperatively play a pathogenic role in the development of infant ALL with MLL-R. We thank Mrs. Chisato Murata for her excellent technical assistance. This work was supported by a grant for Cancer Research, and a grant for Research on Children and Families from the Ministry of Health, Labour, and Welfare of Japan, a Grant-in-Aid for Scientific Research (B, C) and Exploratory Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan and by a Research grant for Gunma Prefectural Hospitals. TT and YH designed the study. JT, MH, TK, MS and EI provided critical reagents and samples. NS and MP performed the experiments. EI, HA and SO supervised the work. NS and MP analysed the results. NS, TT, and YH wrote the paper and all the authors critically reviewed and revised it. The authors declare no conflict of interest." @default.
• W1599814341 created "2016-06-24" @default.
• W1599814341 creator A5021476008 @default.
• W1599814341 creator A5022067956 @default.
• W1599814341 creator A5029115176 @default.
• W1599814341 creator A5031402779 @default.
• W1599814341 creator A5031826187 @default.
• W1599814341 creator A5042588749 @default.
• W1599814341 creator A5066965561 @default.
• W1599814341 creator A5078968582 @default.
• W1599814341 creator A5084232644 @default.
• W1599814341 creator A5087756926 @default.
• W1599814341 creator A5088057360 @default.
• W1599814341 date "2011-10-11" @default.
• W1599814341 modified "2023-10-18" @default.
• W1599814341 title "CBL mutations in infant acute lymphoblastic leukaemia" @default.
• W1599814341 cites W1976767411 @default.
• W1599814341 cites W2029890460 @default.
• W1599814341 cites W2083233127 @default.
• W1599814341 cites W2104599144 @default.
• W1599814341 cites W2117293774 @default.
• W1599814341 cites W2129197633 @default.
• W1599814341 cites W2137573050 @default.
• W1599814341 cites W2148167103 @default.
• W1599814341 cites W2172205939 @default.
• W1599814341 doi "https://doi.org/10.1111/j.1365-2141.2011.08900.x" @default.
• W1599814341 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21988239" @default.
• W1599814341 hasPublicationYear "2011" @default.
• W1599814341 type Work @default.
• W1599814341 sameAs 1599814341 @default.
• W1599814341 citedByCount "11" @default.
• W1599814341 countsByYear W15998143412012 @default.
• W1599814341 countsByYear W15998143412013 @default.
• W1599814341 countsByYear W15998143412014 @default.
• W1599814341 countsByYear W15998143412017 @default.
• W1599814341 countsByYear W15998143412019 @default.
• W1599814341 countsByYear W15998143412021 @default.
• W1599814341 countsByYear W15998143412022 @default.
• W1599814341 crossrefType "journal-article" @default.
• W1599814341 hasAuthorship W1599814341A5021476008 @default.
• W1599814341 hasAuthorship W1599814341A5022067956 @default.
• W1599814341 hasAuthorship W1599814341A5029115176 @default.
• W1599814341 hasAuthorship W1599814341A5031402779 @default.
• W1599814341 hasAuthorship W1599814341A5031826187 @default.
• W1599814341 hasAuthorship W1599814341A5042588749 @default.
• W1599814341 hasAuthorship W1599814341A5066965561 @default.
• W1599814341 hasAuthorship W1599814341A5078968582 @default.
• W1599814341 hasAuthorship W1599814341A5084232644 @default.
• W1599814341 hasAuthorship W1599814341A5087756926 @default.
• W1599814341 hasAuthorship W1599814341A5088057360 @default.
• W1599814341 hasBestOaLocation W15998143411 @default.
• W1599814341 hasConcept C104317684 @default.
• W1599814341 hasConcept C109159458 @default.
• W1599814341 hasConcept C126322002 @default.
• W1599814341 hasConcept C203014093 @default.
• W1599814341 hasConcept C2778461978 @default.
• W1599814341 hasConcept C2779134260 @default.
• W1599814341 hasConcept C2779157977 @default.
• W1599814341 hasConcept C2779282312 @default.
• W1599814341 hasConcept C2779440204 @default.
• W1599814341 hasConcept C2780007613 @default.
• W1599814341 hasConcept C2780076729 @default.
• W1599814341 hasConcept C2780817109 @default.
• W1599814341 hasConcept C2781107101 @default.
• W1599814341 hasConcept C2781107747 @default.
• W1599814341 hasConcept C2781187634 @default.
• W1599814341 hasConcept C28328180 @default.
• W1599814341 hasConcept C2909962599 @default.
• W1599814341 hasConcept C31734879 @default.
• W1599814341 hasConcept C501734568 @default.
• W1599814341 hasConcept C502942594 @default.
• W1599814341 hasConcept C54355233 @default.
• W1599814341 hasConcept C71924100 @default.
• W1599814341 hasConcept C86803240 @default.
• W1599814341 hasConceptScore W1599814341C104317684 @default.
• W1599814341 hasConceptScore W1599814341C109159458 @default.
• W1599814341 hasConceptScore W1599814341C126322002 @default.
• W1599814341 hasConceptScore W1599814341C203014093 @default.
• W1599814341 hasConceptScore W1599814341C2778461978 @default.
• W1599814341 hasConceptScore W1599814341C2779134260 @default.
• W1599814341 hasConceptScore W1599814341C2779157977 @default.
• W1599814341 hasConceptScore W1599814341C2779282312 @default.
• W1599814341 hasConceptScore W1599814341C2779440204 @default.
• W1599814341 hasConceptScore W1599814341C2780007613 @default.
• W1599814341 hasConceptScore W1599814341C2780076729 @default.
• W1599814341 hasConceptScore W1599814341C2780817109 @default.
• W1599814341 hasConceptScore W1599814341C2781107101 @default.
• W1599814341 hasConceptScore W1599814341C2781107747 @default.
• W1599814341 hasConceptScore W1599814341C2781187634 @default.
• W1599814341 hasConceptScore W1599814341C28328180 @default.
• W1599814341 hasConceptScore W1599814341C2909962599 @default.
• W1599814341 hasConceptScore W1599814341C31734879 @default.
• W1599814341 hasConceptScore W1599814341C501734568 @default.
• W1599814341 hasConceptScore W1599814341C502942594 @default.
• W1599814341 hasConceptScore W1599814341C54355233 @default.
• W1599814341 hasConceptScore W1599814341C71924100 @default.
• W1599814341 hasConceptScore W1599814341C86803240 @default.
• W1599814341 hasIssue "5" @default.

• next