Genetic Studies on Hydatidiform Moles

  • Sylvia D. Lawler
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 176)


In this article the term gestational trophoblastic tumor is used to describe both invasive mole and choriocarcinoma and thus includes a nonmalignant and a malignant condition. This difficulty with nomenclature arises because when patients being treated with chemotherapy for a gestational trophoblastic tumor are studied, a histological diagnosis is not available in the majority of cases.


Spontaneous Abortion Amniotic Membrane Hydatidiform Mole Paternal Origin Complete Hydatidiform Mole 


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  1. 1.
    Ober, W. B. and Fass, O. S., The early history of choriocarcinoma, J. Hist. Med. 16:49 (1961).Google Scholar
  2. 2.
    Rather, L. J., Ambroise Paré, The Countess Margaret, multiple births, and hydatidiform moles, Bull. N. Y. Acad. Med. 47:508 (1971).PubMedGoogle Scholar
  3. 3.
    Barr, M. L. and Bertram, E. G., A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis, Nature 163:676 (1949).PubMedCrossRefGoogle Scholar
  4. 4.
    Miller, O. J., The sex chromosome anomalies, Amer. J. Obstet. Gynecol. 90:1078 (1964).Google Scholar
  5. 5.
    Park, W. W., The occurrence of sex chromatin in chorionepitheliomas and hydatidiform moles, J. Path. Bact. 74:197 (1957).CrossRefGoogle Scholar
  6. 6.
    Serr, D. M., in discussion in: “Symposium on Nuclear Sex,” D. R. Smith and W. M. Davidson, eds., William Heinemann, London (1958), p. 175.Google Scholar
  7. 7.
    Klinger, H. P., Ludwig, K. S., Schwarzacher, H. G., and Hauser, G. A., Neue Ergebnisse der Sex-Chromatin-Forschung an Placenta und Eihäuten, Gynaecologia 146:328 (1958).PubMedGoogle Scholar
  8. 8.
    Wagner, D., Zur Frage der chromosomalen Geschlechtsbestimmung bei Frühaborten und Tubargravidäten, Beburtsh. Grauenheilk. 18:1460 (1958).Google Scholar
  9. 9.
    Stolte, L. A. M., Chromosomal disorders in hydatidiform mole, Nederl. Tydschr. verlosk. 60:418 (1960).Google Scholar
  10. 10.
    Tominaga, T. and Page, E. W., Sex chromatin of trophoblastic tumors, Amer. J. Obstet. Gynecol. 96:305 (1966).Google Scholar
  11. 11.
    Baggish, M. S., Woodruff, J. D., Tow, S. H., and Jones, H. W., Sex chromatin pattern in hydatidiform mole, Amer. J. Obstet. Gynecol. 102:362 (1968).Google Scholar
  12. 12.
    Loke, Y. W. and Borland, R., A histological study of chromatin positive and negative hydatidiform moles, Brit. J. Cancer 23: 554 (1969).CrossRefGoogle Scholar
  13. 13.
    Stolte, L. A. M., van Kessel, H. I. A. M., Seelen, J. C., and Tijdink, G. A. J., Chromosomes in hydatidiform moles, Lancet 11:1144 (1960).CrossRefGoogle Scholar
  14. 14.
    Harnden, D. G., Congenital abnormalities with apparently normal chromosome complement, in: “Human Chromosomal Abnormalities,” W. M. Davidson and D. R. Smith, eds., Staples, London (1961).Google Scholar
  15. 15.
    Sasaki, M., Fukuschima, T., and Makino, S., Some aspects of the chromosome constitution of hydatidiform moles and normal chorionic villi, Gann 53:101 (1962).PubMedGoogle Scholar
  16. 16.
    Makino, S., Sasaki, M. S., and Fukuschima, T., Preliminary notes on the chromosomes of human chorionic lesions, Proc. Japan Acad. 39:54 (1963).Google Scholar
  17. 17.
    Makino, S., Sasaki, M. S., and Fukuschima, T., Triploid chromosome constitution in human chorionic lesions, Lancet 11:1213 (1964).Google Scholar
  18. 18.
    Makino, S., Sasaki, M. S., and Fukuschima, T., Cytological studies of tumours: XLI. Chromosomal instability in human chorionic lesions, Okajimas Fol. Anat. Jap. 40:439 (1965).Google Scholar
  19. 19.
    Szulman, A. E., Chromosomal aberrations in spontaneous human abortions, New Engl. J. Med. 272:811 (1965).Google Scholar
  20. 20.
    Bourgoin, P., Baylet, R., Ballon, C., and Grattepanche, H., Exploration d’une hypothèse sur l’étiopathogénie des môles hydatiformes. Etude chromosomique, Rev. Franc. Gynec. Obstet. 60:673 (1965).PubMedGoogle Scholar
  21. 21.
    Carr, D. H., Chromosome studies in spontaneous abortions, Obstet. Gynecol. 26:308 (1965).PubMedGoogle Scholar
  22. 22.
    Klinger, H. P., Atkin, N. B., and Weiss, J., Results of sex chromatin and chromosome studies in hydatidiform moles, Bull. WHO 34:781 (1966).Google Scholar
  23. 23.
    Bole, J. J., Bole, A., and Lazar, P., Les aberrations chromosomiques dans les avortements, Ann. Genet. (Paris) 10:179 (1967).Google Scholar
  24. 24.
    Carr, D. H., Cytogenetics and the pathology of hydatidiform degeneration, Obstet. Gynecol. 33:33 (1969).Google Scholar
  25. 25.
    Tjio, J. H. and Levan, A., The chromosome number of man, Hereditas 42:1 (1956).CrossRefGoogle Scholar
  26. 26.
    Vassilakos, P., Riotten, G., and Kajii, T., Hydatidiform mole: two entities. A morphologic and cytogenetic study with some clinical considerations, Amer. J. Obstet. Gynecol. 127:167 (1977).Google Scholar
  27. 27.
    Szulman, A. E. and Surti, U., The syndromes of hydatidiform mole. 1. Cytogenetic and morphologic correlations, Amer. J. Obstet. Gynecol. 131:665 (1978).Google Scholar
  28. 28.
    Kajii, T. and Ohama, K., Androgenetic origin of hydatidiform mole, Nature 268:633 (1977).PubMedCrossRefGoogle Scholar
  29. 29.
    Wake, N., Takagi, N., and Sasaki, M., Androgenesis as a cause of hydatidiform mole, J. Natl. Cancer Inst. 60:51 (1978).PubMedGoogle Scholar
  30. 30.
    Jacobs, P. A., Hassold, T. J., Matsuyama, A. M., and Newlands, I. M., Chromosome constitution of gestational trophoblastic disease, Lancet 11:49 (1978).CrossRefGoogle Scholar
  31. 31.
    Lawler, S. D., Pickthall, V. J., Fisher, R. A., Povey, S., Wyn Evans, M., and Szulman, A. E., Genetic studies of complete and partial hydatidiform moles, Lancet 11:580 (1979).CrossRefGoogle Scholar
  32. 32.
    Surti, U., Szulman, A. E., and O’Brien, S., Complete (classic) hydatidiform mole with 46,XY karyotype of paternal origin, Human Genetics 51:153 (1979).PubMedCrossRefGoogle Scholar
  33. 33.
    Jacobs, P. A., Wilson, C. M., Sprenkle, J. A., Rosenheim, N. B., and Migeon, B. R., Mechanism of origin of complete hydatidiform moles, Nature 286:714 (1980).PubMedCrossRefGoogle Scholar
  34. 34.
    Surti, U., Szulman, A. E., and O’Brien, S., Dispermic origin and clinical outcome of three complete hydatidiform moles with 46,XY karyotype, Amer. J. Obstet. Gynecol. 144:85 (1982).Google Scholar
  35. 35.
    Giles, R. E., Blanc, H., Cann, H. M., and Wallace, D. C., Maternal inheritance of human mitochondrial DNA, Proc. Natl. Acad. Sci. USA 77:6715 (1980).PubMedCrossRefGoogle Scholar
  36. 36.
    Wallace, D. C., Surti, U., Adams, C. W., and Szulman, A. E., Complete moles have paternal chromosomes but maternal mitochondrial DNA, Hum. Genet. 61:145 (1982).Google Scholar
  37. 37.
    Lawler, S. D., Fisher, R. A., Pickthall, V. J., Povey, S., and Wyn Evans, M., Genetic studies on hydatidiform moles. 1. The origin of partial moles, Cancer Genet. Cytogenet. 5:309 (1982).PubMedCrossRefGoogle Scholar
  38. 38.
    Jacobs, P. A., Szulman, A. E., Funkhauser, J., Matsuura, J. S., and Wilson, C. C., Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole, Ann. Hum. Genet. 46: 223 (1982).PubMedCrossRefGoogle Scholar
  39. 39.
    Schinzel, A., Hayashi, K., Schmid, W., Knecht, B., Tuschy, G., and Boltshauser, E., Triploidie als Ursache von Schwangerschafts gestose in 2 Trimonen, Arch. Gynak. 218:113 (1975).CrossRefGoogle Scholar
  40. 40.
    Kunze, J., Oldigs, H. D., and Tolksdorf, M., Identification of the triploid genome by the C-banding method, Europ. J. Pediat. 123:111 (1976).CrossRefGoogle Scholar
  41. 41.
    Lauritsen, J. G., Aetiology of spontaneous abortion. A cytogenetic and epidemiological study of 288 abortuses and their parents, Acta Obstet. Gynecol. Scand. (Suppl. 52):1 (1976).CrossRefGoogle Scholar
  42. 42.
    Kajii, T. and Niikawa, N., Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers, Cytogenet. Cell Genet. 18:109 (1977).PubMedCrossRefGoogle Scholar
  43. 43.
    Couillin, P., Hors, J., Boué, J., and Boué, A., Identification of the origin of triploidy by HLA markers, Hum. Genet. 41:35.Google Scholar
  44. 44.
    Jacobs, P. A., Angell, R. R., Buchanan, I. M., and Hassold, T. J., The origin of human triploids, Ann. Hum. Genet. 42:49 (1978).PubMedCrossRefGoogle Scholar
  45. 45.
    Brennan, B. G. and Carr, D. H., Parental origin of triploidy and D and G trisomy in spontaneous abortions, J. Med. Genet. 16:287 (1979).CrossRefGoogle Scholar
  46. 46.
    Jacobs, P. A., Szulman, A. E., Hunt, P. A., Matsuura, J. S., and Wilson, C. C., Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology, Brit. J. Obstet. Gynecol. 89:258 (1982).CrossRefGoogle Scholar
  47. 47.
    Fisher, R. A., Sheppard, D. M., and Lawler, S. D., Twin pregnancy with complete hydatidiform mole (46,XX) and fetus (46,XY): genetic origin proved by analysis of chromosome polymorphisms, Brit. Med. J. 284:1218 (1982).CrossRefGoogle Scholar
  48. 48.
    Beischer, N. A., Hydatidiform mole with co-existent foetus, Aus. N. Z. J. Obstet. Gynaecol. 6:127 (1966).CrossRefGoogle Scholar
  49. 49.
    Sauerbrei, E. E., Salem, S., and Fayle, B., Coexistent hydatidiform mole and live fetus in the second trimester, Radiology 135:415 (1980).PubMedGoogle Scholar
  50. 50.
    Bagshawe, K. D. and Lawler, S. D., Choriocarcinoma, in: “Cancer Epidemiology and Prevention,” D. Schottenfeld and J. F. Fraumeni, eds., W. B. Saunders, Philadelphia (1982), p. 916.Google Scholar
  51. 51.
    Vassilakos, P. and Kajii, T., Hydatidiform mole: two entities, Lancet 1:259 (1976).PubMedCrossRefGoogle Scholar
  52. 52.
    Stone, M. and Bagshawe, K. D., Hydatidiform mole: two entities, Lancet 1:535 (1976).PubMedCrossRefGoogle Scholar
  53. 53.
    Szulman, A. E., Surti, U., and Berman, M., Patient with partial mole requiring chemotherapy, Lancet 11:1099 (1978).CrossRefGoogle Scholar
  54. 54.
    Lawler, S. D., Povey, S., Fisher, R. A., and Pickthall, V. J., Genetic studies on hydatidiform moles. II. The origin of complete moles, Ann. Hum. Genet. 46:209 (1982).PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • Sylvia D. Lawler
    • 1
  1. 1.Section of Human Genetics Institute of Cancer ResearchRoyal Marsden HospitalLondonUK

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