Isochromosome 14q in refractory anemia

Boavida, Maria Guida; Ambrósio, P.; Dhermy, Didier; Silva, C.; Correia, Manuel E.

doi:10.1016/s0165-4608(96)00334-2

Cited by 11 publications

(7 citation statements)

References 14 publications

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“…In review of the literature [2–9], a total of 75 cases of myeloid neoplasms with isolated trisomy 14 have been reported. However, the clinicopathologic features and prognostic significance of trisomy 14 are not well described.…”

Section: Discussionmentioning

confidence: 99%

“…Trisomy 14 (+14) as the sole cytogenetic abnormality is rather uncommon and has been reported in the setting of myeloid neoplasms [2–9]. Among the myeloid neoplasms, myelodysplastic syndrome (MDS) is the most common, followed by myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and acute myeloid leukemia (AML) [2–9]. Chronic myelomonocytic leukemia (CMML) and atypical chronic myeloid leukemia, BCR-ABL1 negative, are the two most common entities in the MDS/MPN group.…”

Section: Introductionmentioning

confidence: 99%

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Trisomy 14 as a Sole Chromosome Abnormality Is Associated with Older Age, a Heterogenous Group of Myeloid Neoplasms with Dysplasia, and a Wide Spectrum of Disease Progression

Cui

Bueso‐Ramos

Yin

et al. 2010

Journal of Biomedicine and Biotechnology

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Trisomy 14 is a rare recurrent cytogenetic abnormality in myeloid neoplasms; however, its clinicopathologic features have not been well described. We report the clinicopathologic, immunophenotypic, and molecular genetic features of 16 cases of myeloid neoplasms with isolated trisomy 14. Our results show that cases with isolated trisomy 14 encompass a heterogenous group of myeloid neoplasms including myelodysplastic syndrome (MDS, 44%), myelodysplastic/myeloproliferative neoplasms (31%), and acute myeloid leukemia (25%). The patients are usually elder (median age 71 years), and there is a male predominance (82%). Multilineage dysplasia is noted in all cases. Oncogenic mutations of genes involved in cell proliferation and/or survival rarely occur. Compared with cases of MDS with diploid karyotype, patients of MDS with isolated trisomy 14 demonstrate a similar overall survival and rate of leukemia transformation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Trisomy 14 as a Sole Chromosome Abnormality Is Associated with Older Age, a Heterogenous Group of Myeloid Neoplasms with Dysplasia, and a Wide Spectrum of Disease Progression

Cui

Bueso‐Ramos

Yin

et al. 2010

Journal of Biomedicine and Biotechnology

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“…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%

“…RBC membrane protein analysis was performed in four of seven cases, two showing normal patterns, with abnormalities of protein 4.1 in the other two. Boavida et al (1997) reported that familial elliptocytosis was excluded in their patient, as RBC membrane protein analysis showed a normal pattern. Both the case by Ideguchi et al (1993) and the present case, however, showed quantitative and/or qualitative abnormalities of protein 4.1.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with MDS occasionally show unusual morphological features, and elliptocytosis has been described as a rare RBC abnormality in several cases (Hartz et al, 1984;Rummens et al, 1986;Ideguchi et al, 1993;Boavida et al, 1997;Ishida et al, 1999 2 ). We report a case of MDS presenting with marked elliptocytosis, and review the literature.…”

Section: Introductionmentioning

confidence: 99%

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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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Association between myeloid malignancies and acquired deficit in protein 4.1R: A retrospective analysis of six patients

et al. 2007

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Constitutional deficit in the erythroid protein 4.1 (4.1R), a structural component of the erythrocyte membrane, is implicated in hereditary elliptocytosis. Acquired deficit in protein 4.1R have been rarely described in myelodysplastic syndromes. Here, we report a series of six patients presenting a myelodysplastic or a myeloproliferative disease in association with an elliptocytosis curve on osmotic gradient ektacytometry and a significant decrease in protein 4.1R level. We confirm that deficit in protein 4.1R is recurrent in myeloid malignancies and should be particularly investigated when deletion del (20 q) is present, since we found this chromosomal abnormality in four out of six patients.

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Isochromosome 14q in refractory anemia

Cited by 11 publications

References 14 publications

Trisomy 14 as a Sole Chromosome Abnormality Is Associated with Older Age, a Heterogenous Group of Myeloid Neoplasms with Dysplasia, and a Wide Spectrum of Disease Progression

Trisomy 14 as a Sole Chromosome Abnormality Is Associated with Older Age, a Heterogenous Group of Myeloid Neoplasms with Dysplasia, and a Wide Spectrum of Disease Progression

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

Association between myeloid malignancies and acquired deficit in protein 4.1R: A retrospective analysis of six patients

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