The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Evidence for a multistep pathogenesis of a myelodysplastic syndrome
Abstract
Somatic cell genetic approaches utilizing the cellular mosaicism present in women heterozygous for glucose-6-phosphate dehydrogenase (G6PD) have provided information relevant to the pathogenesis of some neoplastic disorders. With these techniques, we studied a 61-year-old woman with a myelodysplastic syndrome. GdB/GdA heterozygosity was demonstrated in skin and cultured T lymphocytes, which exhibited both A and B type G6PD. In contrast, erythrocytes, platelets, granulocytes, and marrow nucleated cells displayed almost exclusively G6PD type B. In addition, 21 of 24 Epstein-Barr virus-transformed B lymphoblastoid lines that expressed a single immunoglobulin light chain showed only type B G6PD, suggesting that the stem cells involved by this disease were clonal and could differentiate to B lymphocytes as well as to mature granulocytes, erythrocytes , and platelets. Cultured skin fibroblasts and phytohemagglutinin-stimulated lymphocytes were karyotypically normal, but two independent abnormalities were found in marrow--47,XX, +8 and 46,XX,del(11)(q23). None of 14 type B G6PD lymphoblastoid lines analyzed in detail contained these karyotypic abnormalities, which strongly suggests that a visible chromosomal alteration is not the sole step in the development of this disease. We hypothesize that at least two events are involved in the pathogenesis of this patient's myelodysplasia: one causing proliferation of a clone of genetically unstable pluripotent stem cells and another inducing chromosomal abnormalities in its descendants.
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Self-citationEvidence for a multistep pathogenesis of chronic myelogenous leukemia
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Self-citationInvolvement of the B-lymphoid system in chronic myelogenous leukaemia
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Self-citation
Cited by
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
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Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age
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Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction.
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Metadata
- Authors
- Raskind, W., Tirumali, N., Jacobson, R., Singer, J., & Fialkow, P.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 1984-06-01
- Volume
- 63
- Issue
- 6
- Pages
- 1318-1323
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W1481581854
- Cited by
- 302
- References
- 10
- FWCI
- 11.34
- Type
- journal article
- Language
- en
- Open access
- closed
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- Raskind, W., Tirumali, N., Jacobson, R., Singer, J., & Fialkow, P. (1984). Evidence for a multistep pathogenesis of a myelodysplastic syndrome. Blood. https://doi.org/10.1182/blood.v63.6.1318.1318
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