Skip to main content
PMC home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1975 Jun;72(6):2071–2075. doi: 10.1073/pnas.72.6.2071

Somatic rearrangement of chromosome 14 in human lymphocytes.

B K McCaw, F Hecht, D G Harnden, R L Teplitz
PMCID: PMC432696  PMID: 1056013

Abstract

Ataxia-telangiectasia is a rare genetic disorder associated with immune deficiency, chromosome instability, and a predisposition to lymphoid malignancy. We have detected chromosomally anomalous clones of lymphocytes in eight patients with this disorder. Chromosome banding disclosed that the clones are consistently marked by structural rearrangement of the long arm (q) of chromosome 14. A translocation involving 14q was found in clones obtained from seven of the eight patients whereas a ring 14 chromosome was found in a clone obtained from the other. These findings as well as data obtained by others for patients with ataxia-telangiectasia suggest that structural rearrangement of 14q is the initial chromosomal change in lymphocyte clones of patients with this disorder. Chromosomes of lymphocytes from one of the patients were studied before and after the onset of chronic lymphocytic leukemia. Before leukemia was diagnosed, the patient had a lymphocyte clone with a 14q translocation. This clone appears to have given rise to the leukemic cells. We hypothesize that structural rearrangement of 14q is directly related to abnormal growth of lymphocytes and that it may be a step toward the development of lymphoid malignancies. Increasing evidence, provided by others, for the nonrandom involvement of 14q in African-type Burkitt's lymphoma and other lymphoid neoplasms further strengthens this hypothesis.

Full text

PDF
2071

Images in this article

2073Image
on p.2073
2074Image
on p.2074

Selected References

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

  1. BODER E., SEDGWICK R. P. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. 1958 Apr;21(4):526–554. [PubMed] [Google Scholar]
  2. BURNET M. Cancer: a biological approach. III. Viruses associated with neoplastic conditions. IV. Practical applications. Br Med J. 1957 Apr 13;1(5023):841–847. doi: 10.1136/bmj.1.5023.841. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bochkov N. P., Lopukhin Y. M., Kuleshov N. P., Kovalchuk L. V. Cytogenetic study of patients with ataxia-telangiectasia. Humangenetik. 1974;24(2):115–128. doi: 10.1007/BF00283768. [DOI] [PubMed] [Google Scholar]
  4. Caspersson T., Zech L., Johansson C., Modest E. J. Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma. 1970;30(2):215–227. doi: 10.1007/BF00282002. [DOI] [PubMed] [Google Scholar]
  5. De la Chapelle A., Schröder J., Vuopio P. 8-Trisomy in the bone marrow. Report of two cases. Clin Genet. 1972;3(6):470–476. doi: 10.1111/j.1399-0004.1972.tb01483.x. [DOI] [PubMed] [Google Scholar]
  6. Demerec M, Slizynska H. Mottled White 258-18 of Drosophila Melanogaster. Genetics. 1937 Nov;22(6):641–649. doi: 10.1093/genetics/22.6.641. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Garson O. M., Milligan W. J. Acute leukaemia associated with an abnormal genotype. Scand J Haematol. 1974;12(4):256–262. doi: 10.1111/j.1600-0609.1974.tb00207.x. [DOI] [PubMed] [Google Scholar]
  8. Goodman W. N., Cooper W. C., Kessler G. B., Fischer M. S., Gardner M. B. Ataxia-telangiectasia. A report of two cases in siblings presenting a picture of progressive spinal muscular atrophy. Bull Los Angeles Neurol Soc. 1969 Jan;34(1):1–22. [PubMed] [Google Scholar]
  9. Gropp A., Flatz G. Chromosome breakage and blastic transformation of lymphocytes in ataxia-telangiectasia. Humangenetik. 1967 Nov 29;5(1):77–79. doi: 10.1007/BF00286217. [DOI] [PubMed] [Google Scholar]
  10. Hecht F., McCaw B. K., Koler R. D. Ataxia-telangiectasia--clonal growth of translocation lymphocytes. N Engl J Med. 1973 Aug 9;289(6):286–291. doi: 10.1056/NEJM197308092890603. [DOI] [PubMed] [Google Scholar]
  11. Huang C. C., Hou Y., Woods L. K., Moore G. E., Minowada J. Cytogenetic study of human lymphoid T-cell lines derived from lymphocytic leukemia. J Natl Cancer Inst. 1974 Sep;53(3):655–660. doi: 10.1093/jnci/53.3.655. [DOI] [PubMed] [Google Scholar]
  12. KEMP N. H., STAFFORD J. L., TANNER R. CHROMOSOME STUDIES DURING EARLY AND TERMINAL CHRONIC MYELOID LEUKAEMIA. Br Med J. 1964 Apr 18;1(5389):1010–1014. [PMC free article] [PubMed] [Google Scholar]
  13. Lobb D. S., Reeves B. R., Lawler S. D. Identification of isochromosome 17 in myeloid leukaemia. Lancet. 1972 Apr 15;1(7755):849–850. doi: 10.1016/s0140-6736(72)90836-7. [DOI] [PubMed] [Google Scholar]
  14. Manolov G., Manolova Y. Marker band in one chromosome 14 from Burkitt lymphomas. Nature. 1972 May 5;237(5349):33–34. doi: 10.1038/237033a0. [DOI] [PubMed] [Google Scholar]
  15. Mark J., Levan G., Mitelman F. Identification by fluorescence of the G chromosome lost in human meningomas. Hereditas. 1972;71(1):163–168. doi: 10.1111/j.1601-5223.1972.tb01017.x. [DOI] [PubMed] [Google Scholar]
  16. Miller R. W. Deaths from childhood cancer in sibs. N Engl J Med. 1968 Jul 18;279(3):122–126. doi: 10.1056/NEJM196807182790302. [DOI] [PubMed] [Google Scholar]
  17. Petit P., Verhest A., Lecluse van der Bilt F., Jongsma A. The chromosomes of the EB virus-positive Burkitt cell line P3J.HR1K studied by the fluorescent staining technique. Pathol Eur. 1972;7(1):17–21. [PubMed] [Google Scholar]
  18. Pfeiffer R. A. Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome). Humangenetik. 1970;8(4):302–306. doi: 10.1007/BF00280328. [DOI] [PubMed] [Google Scholar]
  19. RUSSELL L. B., BANGHAM J. W. Variegated-type position effects in the mouse. Genetics. 1961 May;46:509–525. doi: 10.1093/genetics/46.5.509. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Reeves B. R. Cytogenetics of malignant lymphomas. Studies utilising a Giemsa-banding technique. Humangenetik. 1973 Dec 10;20(3):231–250. doi: 10.1007/BF00385735. [DOI] [PubMed] [Google Scholar]
  21. Reeves B. R., Lobb D. S., Lawler S. D. Identity of the abnormal F-group chromosome associated with polycythaemia vera. Humangenetik. 1972;14(2):159–161. doi: 10.1007/BF00273302. [DOI] [PubMed] [Google Scholar]
  22. Rigas D. A., Tisdale V. V., Hecht F. Transformation of blood lymphocytes in ataxia telangiectasia. Dose and time response to phytohemagglutinin. Int Arch Allergy Appl Immunol. 1970;39(2-3):221–233. doi: 10.1159/000230350. [DOI] [PubMed] [Google Scholar]
  23. Rowley J. D. Identificaton of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet. 1973 Jun;16(2):109–112. [PubMed] [Google Scholar]
  24. Rowley J. D. Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature. 1973 Jun 1;243(5405):290–293. doi: 10.1038/243290a0. [DOI] [PubMed] [Google Scholar]
  25. Rowley J. D. Letter: Deletions of chromosome 7 in haematological disorders. Lancet. 1973 Dec 15;2(7842):1385–1386. doi: 10.1016/s0140-6736(73)93347-3. [DOI] [PubMed] [Google Scholar]
  26. Rowley J. D. Nonrandom chromosomal abnormalities in hematologic disorders of man. Proc Natl Acad Sci U S A. 1975 Jan;72(1):152–156. doi: 10.1073/pnas.72.1.152. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Sakurai M., Oshimura M., Kakati S., Sandberg A. A. Letter: 8-21 translocation and missing sex chromosomes in acute leukaemia. Lancet. 1974 Jul 27;2(7874):227–228. doi: 10.1016/s0140-6736(74)91535-9. [DOI] [PubMed] [Google Scholar]
  28. Schmid W., Jerusalem F. Cytogenetic findings in two brothers with ataxia-telangiectasia (Louis Bar's syndrome). Arch Genet (Zur) 1972;45(1):49–52. [PubMed] [Google Scholar]
  29. Sumner A. T., Evans H. J., Buckland R. A. New technique for distinguishing between human chromosomes. Nat New Biol. 1971 Jul 7;232(27):31–32. doi: 10.1038/newbio232031a0. [DOI] [PubMed] [Google Scholar]
  30. Whang-Peng J., Canellos G. P., Carbone P. P., Tjio J. H. Clinical implications of cytogenetic variants in chronic myelocytic leukemia (CML). Blood. 1968 Nov;32(5):755–766. [PubMed] [Google Scholar]
  31. Wurster-Hill D. H., McIntyre O. R., Cornwell G. G., 3rd, Maurer L. H. Letter: Marker-chromosome 14 in multiple myeloma and plasma-cell leukaemia. Lancet. 1973 Nov 3;302(7836):1031–1031. doi: 10.1016/s0140-6736(73)91126-4. [DOI] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES