X-Linked Agammaglobulinemia Associated with B-Precursor Acute Lymphoblastic Leukemia

详细信息    查看全文

• 作者：Akihiro Hoshino ; Yusuke Okuno ; Masahiro Migita…
• 关键词：Acute lymphoblastic leukemia ; Bruton’s tyrosine kinase ; MLL2 ; X ; linked agammaglobulinemia
• 刊名：Journal of Clinical Immunology
• 出版年：2015
• 出版时间：February 2015
• 年：2015
• 卷：35
• 期：2
• 页码：108-111
• 全文大小：200 KB
• 参考文献：1. Tsukada, S, Saffran, DC, Rawlings, DJ, Parolini, O, Allen, RC, Klisak, I (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72: pp. 279-90 CrossRef
  2. Nomura, K, Kanegane, H, Karasuyama, H, Tsukada, S, Agematsu, K, Murakami, G (2000) Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway. Blood 96: pp. 610-7
  3. Inaba, H, Greaves, M, Mullighan, CG (2013) Acute lymphoblastic leukaemia. Lancet 381: pp. 1943-55 CrossRef
  4. Mullighan, CG, Su, X, Zhang, J, Radtke, I, Phillips, LA, Miller, CB (2009) Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med 360: pp. 470-80 CrossRef
  5. Shah, S, Schrader, KA, Waanders, E, Timms, AE, Vijai, J, Miething, C (2013) A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet 45: pp. 1226-31 CrossRef
  6. Morin, RD, Mendez-Lago, M, Mungall, AJ, Goya, R, Mungall, KL, Corbett, RD (2011) Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature 476: pp. 298-303 CrossRef
  7. Pasqualucci, L, Trifonov, V, Fabbri, G, Ma, J, Rossi, D, Chiarenza, A (2011) Analysis of the coding genome of diffuse large B-cell lymphoma. Nat Genet 43: pp. 830-7 CrossRef
  8. Urayama, KY, Chokkalingam, AP, Manabe, A, Mizutani, S (2013) Current evidence for an inherited genetic basis of childhood acute lymphoblastic leukemia. Int J Hematol 97: pp. 3-19 CrossRef
  9. Feldhahn, N, Río, P, Soh, BN, Liedtke, S, Sprangers, M, Klein, F (2005) Deficiency of Bruton’s tyrosine kinase in B cell precursor leukemia cells. Proc Natl Acad Sci U S A 102: pp. 13266-71 CrossRef
  10. Ng, SB, Bigham, AW, Buckingham, KJ, Hannibal, MC, McMillin, MJ, Gildersleeve, HI (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42: pp. 790-3 CrossRef
  11. Wilson, WH, Gerecitano, JF, Goy, A, Vos, S, Kenkre, VP, Barr, PM (2012) The Bruton’s tyrosine kinase (BTK) inhibitor, ibrutinib (PCI-32765), has preferential activity in the ABC subtype of relapsed/refractory de novo diffuse large B-cell lymphoma (DLBCL): interim results of a multicenter, open-label, phase 2 study. Blood 120: pp. 686
  12. Aalipour, A, Advani, RH (2013) Bruton tyrosine kinase inhibitors: a promising novel targeted treatment for B cell lymphomas. Br J Haematol 163: pp. 436-43 CrossRef
  13. Rooij, MF, Kuil, A, Geest, CR, Eldering, E, Chang, BY, Buggy, JJ (2012) The clinically active BTK inhibitor PCI-32765 targets B-cell receptor- and chemokine-controlled adhesion and migration in chronic lymphocytic leukemia. Blood 119: pp. 2590-4 CrossRef
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Immunology
  Infectious Diseases
  Internal Medicine
  Medical Microbiology
  
• 出版者：Springer Netherlands
• ISSN：1573-2592

文摘

X-linked agammaglobulinemia (XLA) is clinically characterized by reduced number of peripheral B cells and diminished levels of serum immunoglobulins, and caused by a mutation in the Bruton-em class="a-plus-plus">s tyrosine kinase (BTK) gene, which play a pivotal role in signal transduction of pre-B-cell receptor (BCR) and BCR. B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is the most common malignancy in children, and it may be associated with gene alterations that regulate B-cell development. Here we described a first case of XLA associated BCP-ALL. The whole-exome sequencing revealed a somatic mutation in MLL2 in the sample from the onset of BCP-ALL. This study suggests that the alterations of BTK and MLL2 synergistically function as leukemogenesis.