204
Views
0
CrossRef citations to date
0
Altmetric
Letters

Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome

ORCID Icon, , , , & ORCID Icon
Pages 747-754 | Received 23 Nov 2021, Accepted 16 Feb 2022, Published online: 11 Mar 2022

References

  • Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995;376(6538):348–351. doi:10.1038/376348a0.
  • Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H. Epigenetic mechanisms of Rubinstein-Taybi syndrome. Neuromolecular Med. 2014;16(1):16–24. doi:10.1007/s12017-013-8285-3.
  • Bentivegna A, Milani D, Gervasini C, et al. Rubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006;7:77. doi:10.1186/1471-2350-7-77.
  • Villani A, Greer MLC, Kalish JM, et al. Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk. Clin Cancer Res. 2017;23(12):e83–e90. doi:10.1158/1078-0432.CCR-17-0631.
  • Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet. 1995;56(1):112–115. doi:10.1002/ajmg.1320560125.
  • Boot MV, van Belzen MJ, Overbeek LI, et al. Benign and malignant tumors in Rubinstein-Taybi syndrome. Am J Med Genet A. 2018;176(3):597–608. doi:10.1002/ajmg.a.38603.
  • Siraganian PA, Rubinstein JH, Miller RW. Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol. 1989;17(6):485–491. doi:10.1002/mpo.2950170526.
  • Ihara K, Kuromaru R, Takemoto M, Hara T. Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. Am J Med Genet. 1999;83(5):365–366. doi:10.1002/(SICI)1096-8628(19990423)83:5<365::AID-AJMG4>3.0.CO;2-P.
  • Mullighan CG, Jeha S, Pei D, et al. Outcome of children with hypodiploid ALL treated with risk-directed therapy based on MRD levels. Blood. 2015;126(26):2896–2899. doi:10.1182/blood-2015-09-671131.
  • Safavi S, Paulsson K. Near-haploid and low-hypodiploid acute lymphoblastic leukemia: two distinct subtypes with consistently poor prognosis. Blood. 2017;129(4):420–423. doi:10.1182/blood-2016-10-743765.
  • Holmfeldt L, Wei L, Diaz-Flores E, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013;45(3):242–252. doi:10.1038/ng.2532.
  • Winter G, Kirschner-Schwabe R, Groeneveld-Krentz S, et al. Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome. Leukemia. 2021;35(5):1475–1479. doi:10.1038/s41375-021-01163-y.
  • Maloney KW, Devidas M, Wang C, et al. Outcome in children with standard-risk b-cell acute lymphoblastic leukemia: results of children’s oncology group trial AALL0331. JCO. 2020;38(6):602–612. doi:10.1200/JCO.19.01086.
  • Nachman JB, Sather HN, Sensel MG, et al. Augmented post-induction therapy for children with high-risk acute lymphoblastic leukemia and a slow response to initial therapy. N Engl J Med. 1998;338(23):1663–1671. doi:10.1056/NEJM199806043382304.
  • Parker C, Waters R, Leighton C, et al. Effect of mitoxantrone on outcome of children with first relapse of acute lymphoblastic leukaemia (ALL R3): an open-label randomised trial. Lancet Lond Engl. 2010;376(9757):2009–2017. doi:10.1016/S0140-6736(10)62002-8.
  • Visani G, Tosi P, Zinzani PL, et al. FLAG (fludarabine + high-dose cytarabine + G-CSF): an effective and tolerable protocol for the treatment of “‘poor risk’ acute myeloid leukemias”. Leukemia. 1994;8(11):1842–1846.
  • Spena S, Gervasini C, Milani D. Ultra-rare syndromes: the example of Rubinstein-Taybi syndrome. J Pediatr Genet. 2015;4(3):177–186. doi:10.1055/s-0035-1564571.
  • Schorry EK, Keddache M, Lanphear N, et al. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008;146A(19):2512–2519. doi:10.1002/ajmg.a.32424.
  • Yang XJ. The diverse superfamily of lysine acetyltransferases and their roles in leukemia and other diseases. Nucleic Acids Res. 2004;32(3):959–976. doi:10.1093/nar/gkh252.
  • Qian M, Zhang H, Kham SKY, et al. Whole-transcriptome sequencing identifies a distinct subtype of acute lymphoblastic leukemia with predominant genomic abnormalities of EP300 and CREBBP. Genome Res. 2017;27(2):185–195. doi:10.1101/gr.209163.116.
  • Gao C, Zhang RD, Liu SG, et al. Low CREBBP expression is associated with adverse long-term outcomes in paediatric acute lymphoblastic leukaemia. Eur J Haematol. 2017;99(2):150–159. doi:10.1111/ejh.12897.
  • Mullighan CG, Zhang J, Kasper LH, et al. CREBBP mutations in relapsed acute lymphoblastic leukaemia. Nature. 2011;471(7337):235–239. doi:10.1038/nature09727.
  • Oshima K, Zhao J, Pérez-Durán P, et al. Mutational and functional genetics mapping of chemotherapy resistance mechanisms in relapsed acute lymphoblastic leukemia. Nat Cancer. 2020;1(11):1113–1127. doi:10.1038/s43018-020-00124-1.
  • Gao C, Liu SG, Lu WT, Yue ZX, et al. Downregulating CREBBP inhibits proliferation and cell cycle progression and induces daunorubicin resistance in leukemia cells. Mol Med Rep. 2020;22(4):2905–2915. doi:10.3892/mmr.2020.11347.
  • McNeer JL, Devidas M, Dai Y, et al. Hematopoietic stem-cell transplantation does not improve the poor outcome of children with hypodiploid acute lymphoblastic leukemia: a report from children’s oncology group. J Clin Oncol. 2019;37(10):780–789. doi:10.1200/JCO.18.00884.
  • Burke MJ, Kostadinov R, Sposto R, et al. Decitabine and vorinostat with chemotherapy in relapsed pediatric acute lymphoblastic leukemia: a TACL pilot study. Clin Cancer Res. 2020;26(10):2297–2307. doi:10.1158/1078-0432.CCR-19-1251.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.