<i>CBL</i> mutations in infant acute lymphoblastic leukaemia

Shiba, Norio; Park, Myoung-ja; Taki, Tomohiko; Takita, Junko; Hiwatari, Mitsuteru; Kanazawa, Takashi; Sotomatsu, Manabu; Ishii, Eiichi; Arakawa, Hirokazu; Ogawa, Seishi; Hayashi, Yasuhide

doi:10.1111/j.1365-2141.2011.08900.x

Cited by 11 publications

(11 citation statements)

References 9 publications

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“…Overall, our data document that CBL lesions occur in a relatively low proportion of ALL cases, which is in line with recently published findings (Nicholson et al , ; Shiba et al , ). Of note, mutations were identified in blasts of two children with disease relapse.…”

supporting

confidence: 94%

Loss of CBL E3‐ligase activity in B‐lineage childhood acute lymphoblastic leukaemia

Martinelli

Checquolo²,

Consoli

et al. 2012

Br J Haematol

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supporting

confidence: 94%

Loss of CBL E3‐ligase activity in B‐lineage childhood acute lymphoblastic leukaemia

Martinelli

Checquolo²,

Consoli

et al. 2012

Br J Haematol

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“…Recently, mutations in CBL have been identified in 2 infant ALL patients with MLL gene rearrangements [26]. Nicoloson et al analyzed the linker-RING domains of CBL in a cohort of 180 diagnostic and 46 relapsed ALL patients and identified deletions/insertions of CBL , including the splicing acceptor or donor site of exon 8 in three ALL samples [27].…”

Section: Discussionmentioning

confidence: 99%

Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia

et al. 2012

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Somatic CBL mutations have been reported in a variety of myeloid neoplasms but are rare in acute lymphoblastic leukemia (ALL). We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p.C381R) in one patient with T-ALL that was associated with a uniparental disomy at the CBL locus and a germline heterozygous mutation in one patient with JMML. Two NOTCH1 mutations and homozygous deletions in LEF1 and CDKN2A were identified in T-ALL cells. The activation of the RAS pathway was enhanced, and activation of the NOTCH1 pathway was inhibited in NIH 3T3 cells that expressed p.C381R. This study appears to be the first to identify a CBL mutation in T-ALL.

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“…Screening of CBL in an unselected cohort of ALL patients identified somatic mutations in 1–2% of cases (48, 49). Mutations have also been reported in T ALL and infant ALL and are often associated with acquired uniparental disomy at the CBL gene locus, resulting in a homozygous mutant state (49–51). Functional analyses have shown mutations to be associated with stabilization of RTK receptors in an active state, constitutive activation of the Ras pathway, and cellular sensitivity to MEK inhibitor (MEKi) treatment.…”

Section: Mechanisms Of Ras Pathway Activation In Allmentioning

confidence: 99%

Ras/Raf/MEK/ERK Pathway Activation in Childhood Acute Lymphoblastic Leukemia and Its Therapeutic Targeting

2014

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Deregulation of the Ras/Raf/MEK/extracellular signal-regulated kinase pathway is a common event in childhood acute lymphoblastic leukemia and is caused by point mutation, gene deletion, and chromosomal translocation of a vast array of gene types, highlighting its importance in leukemia biology. Pathway activation can be therapeutically exploited and may guide new therapies needed for relapsed acute lymphoblastic leukemia and other high risk subgroups.

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CBL mutations in infant acute lymphoblastic leukaemia

Cited by 11 publications

References 9 publications

Loss of CBL E3‐ligase activity in B‐lineage childhood acute lymphoblastic leukaemia

Loss of CBL E3‐ligase activity in B‐lineage childhood acute lymphoblastic leukaemia

Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia

Ras/Raf/MEK/ERK Pathway Activation in Childhood Acute Lymphoblastic Leukemia and Its Therapeutic Targeting

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