Skip to main content
NCBI home page
The Journal of Clinical Investigation logoLink to The Journal of Clinical Investigation
. 1984 Jan;73(1):258–261. doi: 10.1172/JCI111199

Pancytopenia as a clonal disorder of a multipotent hematopoietic stem cell.

J L Abkowitz, P J Fialkow, D J Niebrugge, W H Raskind, J W Adamson
PMCID: PMC425008  PMID: 6690481

Abstract

Hematopoiesis was investigated in a 14-yr-old girl who had a 2-yr history of stable asymptomatic pancytopenia and who was also heterozygous at the structural locus for glucose-6-phosphate dehydrogenase (G-6-PD). There was no morphologic or cytogenetic evidence for preleukemia and no suggestion of Fanconi anemia. In the skin and sheep erythrocytes-rosetted T lymphocytes, the ratio of G-6-PD A/B activities was 1:1. However, only type B activity was found in peripheral blood erythrocytes, granulocytes, and platelets. Most erythroid bursts and all granulocyte/macrophage colonies formed in methylcellulose culture were derived from the abnormal clone. These findings demonstrate that (a) some cases of pancytopenia are stem cell diseases that apparently develop clonally; (b) circulating differentiated cells originate from this clone; (c) despite a hypoproliferative anemia, the in vivo expression of presumably normal (nonclonal) progenitors is suppressed. In this patient, the relationship between clonal dominance and possible malignancy may be assessed prospectively.

Full text

PDF
258

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Auerbach A. D., Adler B., Chaganti R. S. Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics. 1981 Jan;67(1):128–135. [PubMed] [Google Scholar]
  2. Fialkow P. J., Gartler S. M., Yoshida A. Clonal origin of chronic myelocytic leukemia in man. Proc Natl Acad Sci U S A. 1967 Oct;58(4):1468–1471. doi: 10.1073/pnas.58.4.1468. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Fialkow P. J. Primordial cell pool size and lineage relationships of five human cell types. Ann Hum Genet. 1973 Jul;37(1):39–48. doi: 10.1111/j.1469-1809.1973.tb01813.x. [DOI] [PubMed] [Google Scholar]
  4. Fialkow P. J., Singer J. W., Adamson J. W., Vaidya K., Dow L. W., Ochs J., Moohr J. W. Acute nonlymphocytic leukemia: heterogeneity of stem cell origin. Blood. 1981 Jun;57(6):1068–1073. [PubMed] [Google Scholar]
  5. Finch C. A., Deubelbeiss K., Cook J. D., Eschbach J. W., Harker L. A., Funk D. D., Marsaglia G., Hillman R. S., Slichter S., Adamson J. W. Ferrokinetics in man. Medicine (Baltimore) 1970 Jan;49(1):17–53. doi: 10.1097/00005792-197001000-00002. [DOI] [PubMed] [Google Scholar]
  6. Garcia J. F., Ebbe S. N., Hollander L., Cutting H. O., Miller M. E., Cronkite E. P. Radioimmunoassay of erythropoietin: circulating levels in normal and polycythemic human beings. J Lab Clin Med. 1982 May;99(5):624–635. [PubMed] [Google Scholar]
  7. Mangan K. F., Chikkappa G., Bieler L. Z., Scharfman W. B., Parkinson D. R. Regulation of human blood erythroid burst-forming unit (BFU-E) proliferation by T-lymphocyte subpopulations defined by Fc receptors and monoclonal antibodies. Blood. 1982 May;59(5):990–996. [PubMed] [Google Scholar]
  8. Newman D. R., Pierre R. V., Linman J. W. Studies on the diagnostic significance of hemoglobin F levels. Mayo Clin Proc. 1973 Mar;48(3):199–202. [PubMed] [Google Scholar]
  9. Rosse W. F. Paroxysmal nocturnal haemoglobinuria in aplastic anaemia. Clin Haematol. 1978 Oct;7(3):541–553. [PubMed] [Google Scholar]
  10. Singer J. W., Adamson J. W., Arlin Z. A., Kempin S. J., Clarkson B. D., Fialkow P. J. Chronic myelogenous leukemia: in vitro studies of hematopoietic regulation in a patient undergoing intensive chemotherapy. J Clin Invest. 1981 Jun;67(6):1593–1598. doi: 10.1172/JCI110193. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Singer J. W., Fialkow P. J., Steinmann L., Najfeld V., Stein S. J., Robinson W. A. Chronic myelocytic leukemia (CML): failure to detect residual normal committed stem cells in vitro. Blood. 1979 Feb;53(2):264–268. [PubMed] [Google Scholar]
  12. Sparkes R. S., Baluda M. C., Townsend D. E. Cellulose acetate electrophoresis of human glucose-6-phosphate dehydrogenase. J Lab Clin Med. 1969 Mar;73(3):531–534. [PubMed] [Google Scholar]
  13. Stahl R. E., Friedman-Kien A., Dubin R., Marmor M., Zolla-Pazner S. Immunologic abnormalities in homosexual men. Relationship to Kaposi's sarcoma. Am J Med. 1982 Aug;73(2):171–178. doi: 10.1016/0002-9343(82)90174-7. [DOI] [PubMed] [Google Scholar]
  14. Stamatoyannopoulos G., Wood W. G., Papayannopoulou T., Nute P. E. A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait. Blood. 1975 Nov;46(5):683–692. [PubMed] [Google Scholar]
  15. Torok-Storb B. J., Sieff C., Storb R., Adamson J., Thomas E. D. In vitro tests for distinguishing possible immune-mediated aplastic anemia from transfusion-induced sensitization. Blood. 1980 Feb;55(2):211–215. [PubMed] [Google Scholar]
  16. Tosato G., Magrath I., Koski I., Dooley N., Blaese M. Activation of suppressor T cells during Epstein-Barr-virus-induced infectious mononucleosis. N Engl J Med. 1979 Nov 22;301(21):1133–1137. doi: 10.1056/NEJM197911223012101. [DOI] [PubMed] [Google Scholar]
  17. Wood W. G., Stamatoyannopoulos G., Lim G., Nute P. E. F-cells in the adult: normal values and levels in individuals with hereditary and acquired elevations of Hb F. Blood. 1975 Nov;46(5):671–682. [PubMed] [Google Scholar]

Articles from Journal of Clinical Investigation are provided here courtesy of American Society for Clinical Investigation

RESOURCES