Diagnosis of acquired bone marrow failure syndrome during childhood using the 2008 World Health Organization classification system

Diagnostic and Therapeutic Center of Children's Blood Disease, Blood Disease Hospital, Institute of Hematology, Chinese Academy of Medical Sciences, 288 Nanjing Road, Tianjin, China.
International journal of hematology (Impact Factor: 1.92). 05/2012; 96(1):34-8. DOI: 10.1007/s12185-012-1092-z
Source: PubMed


Distinguishing hypoplastic myelodysplastic syndrome from aplastic anemia (AA) is challenging. In the present study, Japanese and Chinese pediatric hematologists and pathologists conducted a joint review of bone marrow (BM) smears and trephine biopsies in 100 children with acquired BM failure syndrome, using the criteria proposed in the 2008 edition of the World Health Organization classification of hematopoietic and lymphoid tissues. The final consensus for the diagnoses of 100 children was AA in 29 patients, refractory cytopenia of childhood (RCC) in 58 patients, and refractory cytopenia with multilineage dysplasia (RCMD) in 13 patients. No significant differences between Japanese and Chinese children were found with regards to clinical and laboratory findings, or the distribution of diagnoses. Patients with RCC/RCMD showed milder disease severity and BM hypocellularity than those with AA. To establish the provisional entities for RCC, it is essential to prospectively compare the clinical outcomes between AA and RCC groups in a large number of patients.

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    ABSTRACT: Pediatric acquired aplastic anemia (AA) is a bone marrow disorder that is difficult to distinguish from inherited bone marrow failure syndrome and hypocellular refractory cytopenia of childhood (RCC). Historically, patients with hypocellular RCC have been given the diagnosis of AA. To assess the clinical and histologic distinction between RCC and AA, we performed a retrospective analysis of 149 patients previously diagnosed with AA between 1976-2010. We evaluated event free survival (EFS), overall survival (OS), response rates to immunosuppressive therapy, treatment-related toxicities and clonal evolution. The 5-year EFS and OS were 50.8%±5.5% and 73.1%±4.7%, respectively. Patients with very severe AA had worse OS compared to patients with severe and moderately severe AA. Seventy-two patients had diagnostic pathology specimens available for review. Three pediatric hematopathologists reviewed and reclassified these specimens as AA, RCC or Other based on 2008 WHO Criteria. The concordance between pathologists in the diagnosis of AA or RCC was modest. RCC was associated with a trend towards improved OS and EFS and was not prognostic of immunosuppression therapy treatment failure. There was a low rate of clonal evolution exclusively associated with moderately severe AA. Our findings indicate that a diagnosis of RCC is difficult to establish with certainty and does not predict outcomes, calling into question the reproducibility and clinical significance of the RCC classification and warranting further studies. This article is protected by copyright. All rights reserved.
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