Elliptocytosis in Myelodysplastic Syndrome Associated with Translocation (1;5)(p10;q10) and Deletion of 20q

Ishida, Fumihiro; Shimodaira, Shigetaka; Kobayashi, Hikaru; Saitô, Hiroshi; Kaku, Mayumi; Kanzaki, Akio; Yawata, Yoshihito; Kitano, Kiyoshi; Kiyosawa, Kendo

doi:10.1016/s0165-4608(98)00135-6

Cited by 15 publications

(12 citation statements)

References 10 publications

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“…Table 1. Cases of myelodysplastic syndrome with marked elliptocytosis Hartz et al, 1984Rummens et al, 1986Ideguchi et al, 1993Boavida et al, 1997Ishida et al, 1999 In conclusion, this is the seventh reported case of MDS with marked elliptocytosis. It is likely that the characteristic elliptocytosis is derived from acquired clones with abnormal development of the erythroid lineage, and is disproportionately associated with reduced protein 4.1 and deletion of chromosome 20q.…”

Section: Discussionmentioning

confidence: 74%

“…A variety of RBC morphological abnormalities occur in MDS, including macrocytosis, oval or teardrop cells, fragmented cells and basophilic stippling (Foucar, 2001). Other unusual morphological features have been reported less frequently, including elliptocytosis, schistocytosis and spherocytosis (Hartz et al, 1984;Rummens et al, 1986;Ideguchi et al, 1993;Boavida et al, 1997;Ishida et al, 1999;Aleem & Murray, 2001). To the best of our knowledge, only six cases of MDS with marked elliptocytosis are available in the literature, this being the seventh case with clinical details.…”

Section: Discussionmentioning

confidence: 97%

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Protein 4.1 deficiency and deletion of chromosome 20q are associated with acquired elliptocytosis in myelodysplastic syndrome

et al. 2004

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We report a case of myelodysplastic syndrome (MDS), associated with prominent elliptocytosis. A 66-year-old male presented with peripheral pancytopenia, and was diagnosed with MDS [refractory anaemia (RA)]. Apart from marked elliptocytosis, dyshaematopoietic features were not evident in his peripheral blood or hypercellular bone marrow. After 18 months, he had progressed to RA with excess blasts in transformation. Analysis of red blood cell membrane proteins by sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) showed a reduced quantity of protein 4.1 (30% of control). Deletion of chromosome 20q was identified by conventional cytogenetic analysis and fluorescence in situ hybridization. Marked elliptocytosis, persistent for more than 17 months, decreased strikingly after chemotherapy with idarubicin and Ara-C. These findings suggest that acquired elliptocytosis occurred as an unusual morphological feature of MDS, associated with abnormalities of protein 4.1 and chromosome 20q.

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Section: Discussionmentioning

confidence: 74%

Section: Discussionmentioning

confidence: 97%

Protein 4.1 deficiency and deletion of chromosome 20q are associated with acquired elliptocytosis in myelodysplastic syndrome

et al. 2004

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“…Comme montré dans le Tableau 2, de l'elliptocytose [36] a été détectée dans seulement 5 % des SMD avec del(20q) et dans 30 % des SMD avec ider(20q). Des elliptocytoses marquées ont été décrites en association avec un SMD dans sept cas dont quatre qui montraient une del(20q) isolée [13,14]. Notre série n'a pas réussi à confirmer l'association entre del(20q) et elliptocytose puisque cette dernière n'est pas restreinte à del(20q) et était présent chez trois patients avec SMD avec une ider(20q) isolée et chez six SMD sans del(20q) ou ider(20q).…”

Section: Discussionunclassified

“…Del(20q) implique préférentiellement les précurseurs érythroïdes et mégacaryocytiques [11] et a été parfois associé avec de l'elliptocytose [13,14].…”

Section: Introductionunclassified

L’association des neutrophiles hypogranulaires et vacuolisés à l’érythrophagocytose par les neutrophiles est un marqueur utile dans les syndromes myélodysplasiques avec del(20q) ou ider(20q) : une étude multicentrique

Mullier

Daliphard

Garand

et al. 2012

Immuno-analyse & Biologie Spécialisée

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“…17,18 It is probable that the clonal chromosomal loss in the present MDS patient was a random genetic event, manifest as a dramatic red blood cell phenotype as a consequence of loss of 2 ␣-globin genes; 16p13 is not a common breakpoint in MDS. 19 Other examples of acquired red blood cell abnormalities associated with MDS include loss of glycosylphosphatidylinositol (GPI)-anchored proteins including CD55 and CD59, 20 enzymopathies (especially pyruvate kinase deficiency), 21 membrane defects including elliptocytosis, 22 and blood group isotype changes including exposure of cryptantigens. 23,24 To our knowledge this is the first report of a patient with ATMDS in whom an acquired ␣-globin deletion was demonstrable.…”

Section: Org Frommentioning

confidence: 99%

Deletion of the α-globin gene cluster as a cause of acquired α-thalassemia in myelodysplastic syndrome

Steensma

Viprakasit

Hendrick

et al. 2004

Blood

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IntroductionThe myelodysplastic syndromes (MDS) are a heterogeneous group of bone marrow disorders characterized by ineffective clonal hematopoiesis, acquired genomic instability, and variable risk for transformation to acute leukemia. 1 Most patients with MDS have macrocytic or normocytic anemia, but occasional patients have microcytic red blood cell indices. 2 Rarely, MDS patients with striking hypochromia, microcytosis, and anisopoikilocytosis are found to have acquired hemoglobin H (HbH) disease (␣-thalassemia); this constellation of findings has been called ␣-thalassemia myelodysplastic syndrome (ATMDS). 3 In most patients with ATMDS, a substantial proportion of red blood cells contain HbH inclusions after supravital staining, and severely decreased ␣-globin chain synthesis is paralleled by diminished ␣-globin cytoplasmic and nuclear mRNA levels. 3,4 The common inherited forms of ␣-thalassemia are frequently a consequence of deletions or point mutations affecting the duplicated ␣-globin genes (␣␣/␣␣) on chromosome 16 or, less commonly, deletions of the remote regulatory elements that control ␣-globin expression. 5,6 Germline mutations of ATRX, an X-linked gene encoding a chromatin remodeling protein that regulates the expression of diverse genes, cause mild ␣-thalassemia associated with developmental abnormalities (ATR-X syndrome). 7 ATRX mutations down-regulate the expression of all 4 ␣-globin genes, but the ␣-globin cluster itself is normal.Recently, we have shown that acquired, somatic mutations in the ATRX gene can also underlie ATMDS syndrome. 8,9 To date, 12 unique pathologic ATRX mutations have been found in patients with typical features of ATMDS, including striking "thalassemic" blood pictures, substantial amounts (more than 10%) of HbH, and severely reduced ␣/␤ globin chain biosynthesis ratios. 8,9 However, we have also studied several patients with MDS who have hypochromic, microcytic, red blood cell morphology, but in whom HbH inclusions are only present in a small proportion of erythrocytes or cannot be detected at all. To date, none of these patients have been shown to have mutations in the ATRX gene; the underlying molecular defect remains unknown.Here we report acquired ␣-thalassemia and rare HbH inclusions in an MDS patient. In contrast to previously reported cases of ATMDS, an abnormal hematopoietic clone in this patient had an acquired deletion involving the telomeric region of one allele of chromosome 16, removing 2 of the 4 ␣-genes (ie, genotype ϪϪ/␣␣). This case illustrates a second, less severe mechanism by which ␣-thalassemia may occur as an acquired abnormality in the context of hematologic malignancy. Study designA 72-year-old white British man had microcytic, hypochromic anemia (hemoglobin count, 10.4 g/dL; mean corpuscular volume, 64 fL; mean corpuscular hemoglobin level, 21.7 pg) and neutropenia (leukocyte count, 4.8 ϫ 10 9 /L with 14.7% neutrophils). Two years earlier, he had undergone partial pneumonectomy for localized lung carcinoma; at that time complete blood count finding...

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Elliptocytosis in Myelodysplastic Syndrome Associated with Translocation (1;5)(p10;q10) and Deletion of 20q

Cited by 15 publications

References 10 publications

Protein 4.1 deficiency and deletion of chromosome 20q are associated with acquired elliptocytosis in myelodysplastic syndrome

Protein 4.1 deficiency and deletion of chromosome 20q are associated with acquired elliptocytosis in myelodysplastic syndrome

L’association des neutrophiles hypogranulaires et vacuolisés à l’érythrophagocytose par les neutrophiles est un marqueur utile dans les syndromes myélodysplasiques avec del(20q) ou ider(20q) : une étude multicentrique

Deletion of the α-globin gene cluster as a cause of acquired α-thalassemia in myelodysplastic syndrome

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