Literature DB >> 24932421

Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.

Madeleine Adams1, Meriel Jenney1, Laz Lazarou2, Rhian White2, Sanda Birdsall3, Timo Staab4, Detlev Schindler4, Stefan Meyer5.   

Abstract

Bloom syndrome (BS) is an inherited genomic instability disorder caused by disruption of the BLM helicase and confers an extreme cancer predisposition. Here we report on a girl with BS who developed acute lymphoblastic leukaemia (ALL) at age nine, and treatment-related acute myeloid leukaemia (t-AML) aged 12. She was compound heterozygous for the novel BLM frameshift deletion c.1624delG and the previously described c.3415C>T nonsense mutation. Two haematological malignancies in a child with BS imply a fundamental role for BLM for normal haematopoiesis, in particular in the presence of genotoxic stress.

Entities:  

Keywords:  Bloom syndrome; childhood leukaemia; treatment related leukaemia

Year:  2013        PMID： 24932421      PMCID： PMC4052885          DOI： 10.4172/2157-7412.1000177

Source DB:  PubMed          Journal:  J Genet Syndr Gene Ther        ISSN： 2157-7412


  15 in total

1.  Bloom's and myelodysplastic syndromes: Report of a rare pediatric case with gain of an isochromosome 5p.

Authors:  María Sol Brassesco; Elvis Terci Valera; Carlos Alberto Scrideli; Luiz Gonzaga Tone
Journal:  Leuk Res       Date:  2011-10-05       Impact factor: 3.156

2.  Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

Authors:  James German; Maureen M Sanz; Susan Ciocci; Tian Z Ye; Nathan A Ellis
Journal:  Hum Mutat       Date:  2007-08       Impact factor: 4.878

3.  Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies.

Authors:  B Poppe; H Van Limbergen; N Van Roy; E Vandecruys; A De Paepe; Y Benoit; F Speleman
Journal:  Cancer Genet Cytogenet       Date:  2001-07-01

4.  Bloom's syndrome. XX. The first 100 cancers.

Authors:  J German
Journal:  Cancer Genet Cytogenet       Date:  1997-01

5.  Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.

Authors:  N A Ellis; S Ciocci; J German
Journal:  Hum Genet       Date:  2001-02       Impact factor: 4.132

6.  Bloom's syndrome complicated by myelodysplastic syndrome and multiple neoplasia.

Authors:  Y Iwahara; K Ishii; S Watanabe; H Taguchi; H Hara; I Miyoshi
Journal:  Intern Med       Date:  1993-05       Impact factor: 1.271

Review 7.  Bloom's syndrome.

Authors:  J German
Journal:  Dermatol Clin       Date:  1995-01       Impact factor: 3.478

8.  Therapy-related acute myelogenous leukemia and myelodysplastic syndrome in patients with acute lymphoblastic leukemia treated with the hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone regimens.

Authors:  Dushyant Verma; Susan O'Brien; Deborah Thomas; Stefan Faderl; Charles Koller; Sherry Pierce; Partow Kebriaei; Guillermo Garcia-Manero; Jorge Cortes; Hagop Kantarjian; Farhad Ravandi
Journal:  Cancer       Date:  2009-01-01       Impact factor: 6.860

9.  Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia.

Authors:  C Werner-Favre; M Wyss; C Cabrol; F Félix; R Guenin; D Laufer; E Engel
Journal:  Am J Med Genet       Date:  1984-06

10.  Prognosis of children with acute lymphoblastic leukemia (ALL) and intrachromosomal amplification of chromosome 21 (iAMP21).

Authors:  Anthony V Moorman; Susan M Richards; Hazel M Robinson; Jon C Strefford; Brenda E S Gibson; Sally E Kinsey; Tim O B Eden; Ajay J Vora; Christopher D Mitchell; Christine J Harrison
Journal:  Blood       Date:  2006-11-09       Impact factor: 22.113
View more
  5 in total

1.  Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.

Authors:  Tekla Järviaho; Benedicte Bang; Vasilios Zachariadis; Fulya Taylan; Jukka Moilanen; Merja Möttönen; C I Edvard Smith; Arja Harila-Saari; Riitta Niinimäki; Ann Nordgren
Journal:  Blood Adv       Date:  2019-09-24

2.  A study of deregulated MMR pathways and anticancer potential of curcuma derivatives using computational approach.

Authors:  Priyanjali Bhattacharya; Trupti N Patel
Journal:  Sci Rep       Date:  2021-05-12       Impact factor: 4.379

3.  Multidisciplinary management of endocrinopathies and treatment-related toxicities in patients with Bloom syndrome and cancer.

Authors:  Carolyn Fein Levy; Lubaina S Presswala; Alana Slomovic; Jessica Stiefel; Rifka Schulman-Rosenbaum
Journal:  Pediatr Blood Cancer       Date:  2020-11-23       Impact factor: 3.838

4.  A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.

Authors:  Cynthia Perreault-Micale; Jocelyn Davie; Benjamin Breton; Stephanie Hallam; Valerie Greger
Journal:  Mol Genet Genomic Med       Date:  2015-04-23       Impact factor: 2.183

5.  Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.

Authors:  Sue M Huson; Timo Staab; Marta Pereira; Heather Ward; Roberto Paredes; D Gareth Evans; Daniel Baumhoer; James O'Sullivan; Ed Cheesman; Detlev Schindler; Stefan Meyer
Journal:  Fam Cancer       Date:  2020-11-21       Impact factor: 2.375
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.