Heterogeneity of acquired idiopathic sideroblastic anaemia (AISA)

Garand, Richard; Gardais, J; Bizet, Marie; Bremond, J; Accard, Françoise; Callat, M. P.; Bouchony, E. Tron de; Goasguen, J

doi:10.1016/0145-2126(92)90171-3

Cited by 36 publications

(15 citation statements)

References 12 publications

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“…There is consensus that disorders with ringed sideroblasts are heterogeneous and cannot be lumped into a single entity. 4,9 An increased number of ringed sideroblasts can also occur in CMML and RAEB patients, and in these cases, it does not dictate the classification. Garand et al 4 and Germing et al 9 showed that pure sideroblastic anemia (PSA) confers a survival advantage over RARS associated with additional dysplastic features.…”

Section: Discussionmentioning

confidence: 99%

“…1 This leads to a wide spectrum of disease phenotypes and heterogeneity in cytomorphological disease subsets. [2][3][4] The FAB classification remains the standard against which all new cytomorphological classification systems are evaluated and its five subsets predict the risk of evolution towards acute myeloid leukaemia (AML).> Nevertheless, the great disparity in outcome within the different subgroups limits its utility as a model for predicting prognosis in individual patients. The International Prognostic Scoring System (IPSS) is a powerful instrument to improve on this; however, its refined subdivision of blast percentages has no bearing on low-grade MDS.…”

Section: Introductionmentioning

confidence: 99%

“…4,[9][10][11][12] In this regard, Matsuda et al 13 and Tassin et al 14 carried out valuable work in creating dysplasia scoring systems even before the advent of the WHO proposal. The first system relied on the pseudo Pelger-Huet (PPH) anomaly, hemoglobin level and micromegakaryocytes, the other mainly on the PPH anomaly and agranularity versus hypogranularity.…”

Section: Introductionmentioning

confidence: 99%

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A new disease categorization of low-grade myelodysplastic syndromes based on the expression of cytopenia and dysplasia in one versus more than one lineage improves on the WHO classification

et al. 2007

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Multilineage dysplasia was advanced by the World Health Organization to increase prognostic accuracy in myelodysplastic syndromes (MDS) classification. We performed a structured cytomorphological examination of bone marrow (BM) in 221 low-grade MDS patients, this in conjunction with strict guidelines for cytopenias. A dysplasia scoring system was developed utilizing dysplastic changes, which were associated with worse outcome on univariate and multivariate analysis corrected for the International Prognostic Scoring System (IPSS). Dysplasia X10% in one BM lineage and one cytopenia constituted the low-risk category UCUD or Unilineage Cytopenia and Unilineage Dysplasia. The high-risk category comprised patients with cytopenia in X2 lineages and dysplasia in X2 BM lineages, namely MCMD or Multilineage Cytopenia and Multilineage Dysplasia. Intermediate-risk patients had one cytopenia and multilineage dysplasia, or cytopenia in X2 lineages and unilineage BM dysplasia, designated UCMD/MCUD or Unilineage Cytopenia and Multilineage Dysplasia/Multilineage Cytopenia and Unilineage Dysplasia. This system utilizing cytopenia-dysplasia scoring at diagnosis enabled comprehensive categorization of low-grade MDS cases that predicted for overall as well as leukemia-free survival. Cytopenia-dysplasia categorization added additional prognostic values to the lower risk IPSS categories. This suggests that a standardized dysplasia scoring system, used in conjunction with cytopenia, could improve diagnostic and prognostic sub-categorization of MDS patients.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A new disease categorization of low-grade myelodysplastic syndromes based on the expression of cytopenia and dysplasia in one versus more than one lineage improves on the WHO classification

et al. 2007

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“…The majority of patients have a trilineage disorder involving erythroid, granulocyte, and megakaryocyte cells, and an increased risk of progression to leukemia ( 16). However, a "pure sideroblastic anemia" form has been identified with only erythroid dysplasia and a low risk of transformation to acute leukemia (17)(18)(19)(20) (Table II).…”

Section: Introductionmentioning

confidence: 99%

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Cotter¹,

May²,

Fitzsimons³

et al. 1995

J. Clin. Invest.

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X-linked sideroblastic anemia (XLSA) is caused by mutations of the erythroid-specific 6-aminolevulinate synthase gene (ALAS2) resulting in deficient heme synthesis. The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life. Hematologic response to pyridoxine is variable and rarely complete. We report two unrelated cases of highly pyridoxine-responsive XLSA in geriatric patients previously diagnosed with refractory anemia and ringed sideroblasts. A previously unaffected 77-yr-old male and an 81-yr-old female were each found to have developed severe hypochromic, microcytic anemia with ringed sideroblasts in the bone marrow, which responded dramatically to pyridoxine with normalization of hemoglobin values. Sequence analysis identified an A to C transversion in exon 7 (K299Q) of the ALAS2 gene in the male proband and his daughter. In the female proband a

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“…[10][11][12] In our series, introduction of this new subgroup of MDS greatly improved the prognostic value of FAB classification. In fact, median survival for the 66 patients classified Correspondence: CL Balduini; Fax: 39 382 52 5222 Received 25 November 1997; accepted 10 July 1998…”

Section: To the Editormentioning

confidence: 99%

Multilineage dysplasia without increased blasts identifies a poor prognosis subset of myelodysplastic syndromes

et al. 1998

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Heterogeneity of acquired idiopathic sideroblastic anaemia (AISA)

Cited by 36 publications

References 12 publications

A new disease categorization of low-grade myelodysplastic syndromes based on the expression of cytopenia and dysplasia in one versus more than one lineage improves on the WHO classification

A new disease categorization of low-grade myelodysplastic syndromes based on the expression of cytopenia and dysplasia in one versus more than one lineage improves on the WHO classification

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Multilineage dysplasia without increased blasts identifies a poor prognosis subset of myelodysplastic syndromes

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