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Characteristic chromosome abnormalities, including rearrangements of 6p, del(7q), +12, and t(12;14), in 44 uterine leiomyomas

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Summary

The cytogenetic analysis of 224 leiomyomas from 138 patients is presented. An insufficient number of mitoses was found in 35 tumors, normal karyotypes in 145, and clonal chromosome aberrations were detected in 44. The three previously identified cytogenetic subgroups were all represented in this series: del(7) (q21.2q31.2) was found in 11, trisomy 12 in five, and t(12;14)(q14-15;q23-24) in one leiomyoma. Rearrangements of 6p, including deletions, inversions, and various translocations, were found in eight tumors, thus delineating a new cytogenetic subgroup of uterine leiomyoma. The remaining 21 karyotypically abnormal tumors had nonrecurrent changes. One leiomyoma had two cytogenetically unrelated clones characterized by del(7)(q21.2 q31.2) and +12. Karyotypic changes in two separate leiomyomas from the same uterus were identified in five patients; in three of them, different anomalies were found in the two tumors, whereas cytogenetically identical aberrations − del(7q) and dic(21;22) − were detected in two macroscopically discrete tumors. These findings suggest that whereas some multiple leiomyomas originate independently, others may be derived from the same neoplastic clone.

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Authors and Affiliations

  1. Department of Clinical Genetics, University Hospital, S-221 85, Lund, Sweden

    Mef Nilbert, Sverre Heim, Nils Mandahl & Felix Mitelman

  2. Department of Gynecology, University Hospital, S-221 85, Lund, Sweden

    Ulla-Maria Flodérus

  3. Department of Clinical Pathology, University Hospital, S-221 85, Lund, Sweden

    Helena Willén

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  1. Mef Nilbert
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  2. Sverre Heim
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  3. Nils Mandahl
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  4. Ulla-Maria Flodérus
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  5. Helena Willén
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  6. Felix Mitelman
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Nilbert, M., Heim, S., Mandahl, N. et al. Characteristic chromosome abnormalities, including rearrangements of 6p, del(7q), +12, and t(12;14), in 44 uterine leiomyomas. Hum Genet 85, 605–611 (1990). https://doi.org/10.1007/BF00193583

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  • DOI: https://doi.org/10.1007/BF00193583

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