Literature DB >> 29476317

Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.

Motoshi Sonoda1, Masataka Ishimura2, Yuko Ichimiya2, Eiko Terashi2, Katsuhide Eguchi2, Yasunari Sakai2, Hidetoshi Takada2,3, Asahito Hama4, Hitoshi Kanno5, Tsutomu Toki6, Etsuro Ito6, Shouichi Ohga2.   

Abstract

Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman-Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.

Entities:  

Keywords:  Deletion 20q; L3MBTL1; Myelodysplastic syndrome; Pure red cell aplasia; Ribosomopathy

Mesh：

Substances：

Year:  2018        PMID： 29476317     DOI： 10.1007/s12185-018-2424-4

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


  23 in total

1.  Severe iron overload in Blackfan-Diamond anemia: a case-control study.

Authors:  Simona Roggero; Paola Quarello; Tiziana Vinciguerra; Filomena Longo; Antonio Piga; Ugo Ramenghi
Journal:  Am J Hematol       Date:  2009-11       Impact factor: 10.047

2.  Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.

Authors:  Fumika Ikeda; Kenichi Yoshida; Tsutomu Toki; Tamayo Uechi; Shiori Ishida; Yukari Nakajima; Yoji Sasahara; Yusuke Okuno; Rika Kanezaki; Kiminori Terui; Takuya Kamio; Akie Kobayashi; Takashi Fujita; Aiko Sato-Otsubo; Yuichi Shiraishi; Hiroko Tanaka; Kenichi Chiba; Hideki Muramatsu; Hitoshi Kanno; Shouichi Ohga; Akira Ohara; Seiji Kojima; Naoya Kenmochi; Satoru Miyano; Seishi Ogawa; Etsuro Ito
Journal:  Haematologica       Date:  2016-12-01       Impact factor: 9.941

3.  Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

Authors:  Adrianna Vlachos; Philip S Rosenberg; Eva Atsidaftos; Blanche P Alter; Jeffrey M Lipton
Journal:  Blood       Date:  2012-02-23       Impact factor: 22.113

4.  Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Authors:  Vijay G Sankaran; Roxanne Ghazvinian; Ron Do; Prathapan Thiru; Jo-Anne Vergilio; Alan H Beggs; Colin A Sieff; Stuart H Orkin; David G Nathan; Eric S Lander; Hanna T Gazda
Journal:  J Clin Invest       Date:  2012-06-18       Impact factor: 14.808

5.  Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry.

Authors:  Jeffrey M Lipton; Eva Atsidaftos; Israel Zyskind; Adrianna Vlachos
Journal:  Pediatr Blood Cancer       Date:  2006-05-01       Impact factor: 3.167

6.  Characteristics and outcome of myelodysplastic syndromes (MDS) with isolated 20q deletion: a report on 62 cases.

Authors:  Thorsten Braun; Stéphane de Botton; Anne-Laure Taksin; Sophie Park; Odile Beyne-Rauzy; Valérie Coiteux; Rosa Sapena; Anne Lazareth; Geneviève Leroux; Khaled Guenda; Bruno Cassinat; Michaela Fontenay; Norbert Vey; Agnès Guerci; François Dreyfus; Dominique Bordessoule; Aspasia Stamatoullas; Sylvie Castaigne; Christine Terré; Virginie Eclache; Pierre Fenaux; Lionel Adès
Journal:  Leuk Res       Date:  2011-03-10       Impact factor: 3.156

7.  Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Authors:  Karen W Gripp; Cynthia Curry; Ann Haskins Olney; Claudio Sandoval; Jamie Fisher; Jessica Xiao-Ling Chong; Lisa Pilchman; Rebecca Sahraoui; Deborah L Stabley; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2014-06-18       Impact factor: 2.802

8.  Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Authors:  Hanna T Gazda; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Hal Schneider; Natasha Darras; Catherine Hasman; Colin A Sieff; Peter E Newburger; Sarah E Ball; Edyta Niewiadomska; Michal Matysiak; Jan M Zaucha; Bertil Glader; Charlotte Niemeyer; Joerg J Meerpohl; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Alan H Beggs
Journal:  Am J Hum Genet       Date:  2008-12       Impact factor: 11.025

Review 9.  Role of ribosomal protein mutations in tumor development (Review).

Authors:  Kaveh M Goudarzi; Mikael S Lindström
Journal:  Int J Oncol       Date:  2016-02-09       Impact factor: 5.650

10.  The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types.

Authors:  Laura Fancello; Kim R Kampen; Isabel J F Hofman; Jelle Verbeeck; Kim De Keersmaecker
Journal:  Oncotarget       Date:  2017-02-28
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