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Disease progression in recently diagnosed patients with inherited marrow failure syndromes: A Canadian inherited marrow failure registry (CIMFR) report
Author(s) -
Steele J.M.,
Sung L.,
Klaassen R.,
Fernandez C.V.,
Yanofsky R.,
Wu J.,
Odame I.,
Silva M.,
Champagne J.,
Ali K.,
Brossard J.,
Samson Y.,
Abish S.,
Le D.,
Jardine L.,
Hand J.P.,
Lipton J.H.,
Charpentier K.,
Stephens D.,
Freedman M.,
Dror Y.
Publication year - 2006
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20876
Subject(s) - medicine , diamond–blackfan anemia , bone marrow failure , fanconi anemia , international prognostic scoring system , neutropenia , myelodysplastic syndromes , anemia , hematopoietic stem cell transplantation , population , disease , transplantation , pediatrics , bone marrow , haematopoiesis , stem cell , chemotherapy , biology , dna repair , gene , ribosome , rna , biochemistry , chemistry , genetics , environmental health
Background Inherited bone marrow failure syndromes (IMFSs) are genetic disorders characterized by defective single‐lineage or multi‐lineage hematopoiesis. IMFS patients are at risk for severe cytopenias, development of marrow cytogenetic abnormalities (MCA), myelodysplasia (MDS), and malignancy. The rate of disease progression and proportion of patients at risk for these complications is currently unclear. We examined recently diagnosed IMFS patients to determine distribution of diagnoses, disease progression and development of significant outcomes. Methods The CIMFR is a prospective multi‐center study established in 2001 to register all IMFS patients in Canada. Analysis was restricted to patients diagnosed after November 30, 1997. Summary statistics were used to depict the study population while survival was described using the Kaplan–Meier method. Results 74 CIMFR patients were considered recently diagnosed. Median age at diagnosis was 2.7 years (range, birth to 40.6). Annual follow‐up data were available for 53 (72%) patients. The five most prevalent diagnoses were Fanconi anemia (FA), Shwachman–Diamond syndrome (SDS), Diamond–Blackfan anemia (DBA), dyskeratosis congenita (DKC), and Kostmann's neutropenia (KS). Eighteen (24%) patients were unclassifiable. Twenty‐eight (53%) follow‐up patients had disease progression as indicated by new or worsening cytopenias, new marrow changes, or initiation of transfusion support and/or medical therapy. Fourteen (19%) fulfilled minimal diagnostic criteria for myelodysplasia. Eleven patients had hematopoietic stem cell transplantation (HSCT) by first follow‐up. Five patients have died. Survival at 36 months is 89.8 ± 5.7%. Conclusions IMFS patients are often diagnosed at a young age. The relative distribution of diagnoses is similar to previous reviews of published cases; however, 25% of patients are currently unclassifiable. Disease progression has occurred in approximately 50% of follow‐up patients. Early mortality is noted. Continued prospective observation of these patients is warranted. Pediatr Blood Cancer © 2006 Wiley‐Liss, Inc.