Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: leiomyoma

Sandberg, Avery A.

doi:10.1016/j.cancergencyto.2004.08.025

Cited by 111 publications

(73 citation statements)

References 266 publications

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“…were found as the sole karyotypic anomaly in six of the examined uterine leiomyomas as part of a 2n = 46 karyotype (Nilbert and Heim, 1990;Kiechle-Schwarz et al, 1991;Polito et al, 1999). This is not really in contrast to Sandberg's (2005) view that rings containing chromosome 1 may be secondary changes in these tumors, as the cases with r(1) as the sole karyotypic abnormality still are the minority. Just several years before Pandis et al (1991) had suggested that r(1) formation is a preferred pathway in clonal evolution of uterine leiomyomas.…”

Section: Ring Chromosomes In Mesenchymal Tumorsmentioning

confidence: 77%

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Ring chromosomes in human neoplasias

Gebhart

2008

Cytogenet Genome Res

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Though reported from a wide variety of human neoplasias, ring chromosomes, in general, are a rare finding in these diseases. The majority were detected by chance when tumors were screened for chromosomal aberrations. In most cases they are a part of highly complex karyotypic alterations and therefore part of unfavourable prognostic factors. However, in some tumor entities (e.g. tumors of mesenchymal origin) they are of such high prevalence (up to 70% of these tumors) and of such extraordinary specificity that they can even serve as cytogenetic hallmarks for differential diagnosis and for prognostic purposes. The well-known technical problems in malignant cells of achieving high banding quality to define all single chromosomal alterations have severely hampered clear identification of the chromosomes involved in rings until recently. Substantial progress of ring identification could only be achieved when molecular cytogenetic techniques became available. By these techniques it could not only be shown that certain breakpoint regions nonrandomly contribute to ring rearrangements which – at least in certain malignancies – are of basic importance, but also the molecular consequences of these changes could be defined in some cases. The present review summarizes a great number of reports on a total of 760 ring chromosomes in human neoplasias at different sites, but includes only cases with clearly identified rings. In addition, the molecular consequences of ring formation are addressed wherever pertinent information has recently been presented in the literature.

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Section: Ring Chromosomes In Mesenchymal Tumorsmentioning

confidence: 77%

“…In a recent review by Sandberg (2005) among 220 cytogenetically analyzed leiomyomas 13 cases with ring chromosomes were reported. As shown in Table 2 , in a great majority of cases chromosome 1 was non-randomly involved in the rings which could be identified by cytogenetic and molecular cytogenetic techniques.…”

Section: Ring Chromosomes In Mesenchymal Tumorsmentioning

confidence: 99%

Ring chromosomes in human neoplasias

Gebhart

2008

Cytogenet Genome Res

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“…Up to now, a series of studies, including familial, epidemiological, and cytogenetic studies, have indicated that genetic factors play important roles during the initiation and development of uterine leiomyomas [6][7][8]. Stewart et al demonstrated that hundreds of genes dysregulated in leiomyoma versus normal myometrium [5].…”

Section: Introductionmentioning

confidence: 97%

Effects of miRNA-197 overexpression on proliferation, apoptosis and migration in levonorgestrel treated uterine leiomyoma cells

Jing

et al. 2015

Biomedicine & Pharmacotherapy

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“…They are clinically diagnosed in 25% of women of reproductive age and are often associated with dysmenorrhea, dyspareunia, menorrhagia, infertility, and miscarriages (1,2) and are the single largest cause of hysterectomy. Leiomyomas are monoclonal in origin, and 40% of the tumors have karyotypic abnormalities, including deletions in chromosome 7, trisomy of chromosome 12, and rearrangements involving the HMGA1 (6p21) and HMGA2 (12q14) genes (3)(4)(5). Whole-exome approaches have identified heterozygous somatic mutations in the mediator complex subunit 12 (MED12, Online Mendelian Inheritance in Man [OMIM] 300188) in approximately 70% of leiomyomas in patients from various ethnic and racial groups (6,7).…”

Section: Introductionmentioning

confidence: 99%