Literature DB >> 8625135

Diamond-Blackfan anemia and malignancy. A case report and a review of the literature.

P J van Dijken1, W Verwijs.   

Abstract

BACKGROUND: Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome involving the erythropoietic lineage. A preleukemic predisposition has been suggested but not proven.
METHODS: The development of Hodgkin's disease in a 15-year-old boy with DBA, in remission for 13 years after cessation of steroid therapy, is described. Review of the literature revealed 11 other cases of malignancy (10 hematologic) in DBA.
RESULTS: This patient, together with those described in the literature, shows that the incidence of hematological malignancy in DBA is increased (2.5% of all reported cases of DBA). Treatment was successful in three, including one after allogeneic bone marrow transplantation and our patient in whom recurrence of DBA complicated treatment.
CONCLUSIONS: The incidence of hematologic malignancies in patients with DBA is increased. Treatment can be successful but may be complicated by recurrence of DBA. Bone marrow transplantation should be considered for patients with a suitable donor as part of treatment of patients with DBA and hematologic malignancy.

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Year:  1995        PMID: 8625135     DOI: 10.1002/1097-0142(19950801)76:3<517::aid-cncr2820760324>3.0.co;2-8

Source DB:  PubMed          Journal:  Cancer        ISSN: 0008-543X            Impact factor:   6.860


  7 in total

1.  Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

Authors:  Hanna T Gazda; Milena Preti; Mee Rie Sheen; Marie-Françoise O'Donohue; Adrianna Vlachos; Stella M Davies; Antonis Kattamis; Leana Doherty; Michael Landowski; Christopher Buros; Roxanne Ghazvinian; Colin A Sieff; Peter E Newburger; Edyta Niewiadomska; Michal Matysiak; Bertil Glader; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Alan H Beggs
Journal:  Hum Mutat       Date:  2012-04-16       Impact factor: 4.878

2.  Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

Authors:  Hanna T Gazda; Alvin T Kho; Despina Sanoudou; Jan M Zaucha; Isaac S Kohane; Colin A Sieff; Alan H Beggs
Journal:  Stem Cells       Date:  2006-06-01       Impact factor: 6.277

3.  Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report.

Authors:  Ikuo Matsuda; Yasu-aki Tsuchida; Fumihiko Toyoshima; Katsuyuki Tozawa; Hisatomo Ikehara; Yoshio Ohda; Kazutoshi Hori; Yoshitoshi Ohtsuka; Jiro Watari; Hiroto Miwa; Seiichi Hirota
Journal:  Int J Clin Exp Pathol       Date:  2015-05-01

4.  Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation.

Authors:  Shouichi Ohga; Hideo Mugishima; Akira Ohara; Seiji Kojima; Kohji Fujisawa; Keiko Yagi; Masamune Higashigawa; Ichiro Tsukimoto
Journal:  Int J Hematol       Date:  2004-01       Impact factor: 2.490

Review 5.  The inherited bone marrow failure syndromes.

Authors:  S Deborah Chirnomas; Gary M Kupfer
Journal:  Pediatr Clin North Am       Date:  2013-12       Impact factor: 3.278

6.  Down-regulation of ribosomal protein L7A in human osteosarcoma.

Authors:  Shui-er Zheng; Yang Yao; Yang Dong; Feng Lin; Hui Zhao; Zan Shen; Yuan-jue Sun; Li-na Tang
Journal:  J Cancer Res Clin Oncol       Date:  2009-01-06       Impact factor: 4.553

7.  Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.

Authors:  Jitendra Badhai; Anne-Sophie Fröjmark; Edward J Davey; Jens Schuster; Niklas Dahl
Journal:  Biochim Biophys Acta       Date:  2009-08-16
  7 in total

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