Malignancies and MDS in Patients with Diamond-Blackfan Anemia (DBA) from the Czech National DBA Registry
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چکیده
منابع مشابه
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome diagnosed in early infancy that is characterized by a (a) macrocytic anemia with no other significant cytopenia, (b) reticulocytopenia, and (c) normal bone marrow cellularity with a paucity of erythroid precursors. Physical anomalies are often present. Mutations in several ribosomal proteins have been associated with the d...
متن کاملIncidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by red cell aplasia and congenital anomalies. A predisposition to cancer has been suggested but not quantified by case reports. The DBA Registry of North America (DBAR) is the largest established DBA patient cohort, with prospective follow-up since 1991. This report presents the first quantitative assessmen...
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1Steven and Alexandra Cohen Children’s Medical Center of New York, Hematology/Oncology and Stem Cell Transplantation, New Hyde Park, NY; 2The Feinstein Institute for Medical Research, Manhasset, NY; 3Hofstra North Shore–Long Island Jewish School of Medicine, Hempstead, NY; and 4Biostatistics Branch and 5Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Inst...
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http://bloodjournal.hematologylibrary.org/content/92/11/4422.full.html Updated information and services can be found at: (1174 articles) Red Cells Articles on similar topics can be found in the following Blood collections http://bloodjournal.hematologylibrary.org/site/misc/rights.xhtml#repub_requests Information about reproducing this article in parts or in its entirety may be found online a...
متن کاملDiamond Blackfan anemia.
Mutations affecting genes encoding ribosomal proteins cause Diamond Blackfan anemia (DBA), a rare congenital syndrome associated with physical anomalies, short stature, red cell aplasia, and an increased risk of malignancy. p53 activation has been identified as a key component in the pathophysiology of DBA after cellular and molecular studies of knockdown cellular and animal models of DBA and o...
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ژورنال
عنوان ژورنال: Blood
سال: 2019
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2019-126187