Leiomyoma, Uterine

Alternative Names

  • UL
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WHO-ICD-10 version:2010

Neoplasms

Benign neoplasms

OMIM Number

150699

Mode of Inheritance

Autosomal dominant

Gene Map Locus

12q14.3

Description

Uterine leiomyomas, also known as fibroids, are very common in women, with approximately 20-40% of women over the age of 30 years being affected. Leiomyomas are benign, mesenchymal tumors of the uterus, arising from overgrowth of uterine smooth muscles and connective tissues. Usual symptoms of the disease include heavy menstrual flow resulting from erosion of submucosal fibroids into the endometrial cavity, bleeding between periods, pain, pelvic pressure, urinary frequency, incontinence, and uretral obstruction. Leiomyomas may also interfere with implantation, causing infertility. Complications of the disease include malignant degeneration of the leiomyoma into a sarcoma. During pregnancy, additional complications, such as spontaneous abortions, growth retardation, preterm labor, postpartum hemorrhage and/or hydronephrosis may be seen.

Leiomyomas can be identified by imaging techniques, such as transabdominal or transvaginal ultrasonography as well as MRI and CT scans. Treatment usually involves a surgical option. In fact, hysterectomy is the only permanent cure. Myomectomy, which involves removal of only the fibroid, without removing the uterus, is recommended for women who may want to have children. However, the recovery time for this procedure is very long, and there is an increased chance for infection. Embolization is another treatment strategy in which blood flow to the fibroids are blocked, causing them to degenerate. Gonadotropin releasing hormone (GnRH) analogues may be administered prior to surgery to reduce the size of the fibroids.

Cytogenetic analyses of leiomyomatas have shown that at least 40% of these tumors have recurrent chromosome abnormalities. The most common of these are aberrations in chromosomes 6p and 12q. The gene HMGA2 (High Mobility Group at-Hook 2), present on chromosome 12q has been frequently found to be translocated in this disease. A typical reciprocal translocation involving HMGA2 and its preferred translocational partner in UL, RAD51B, is represented as t(12;14)(q14-15;q23-24).

Uterine leiomyomas have been also observed with other fusion partners of the HMGIC gene, namely ALDH2, COX6C, and HEI10. Uterine leiomyomata also occur in association with skin leiomyomata and renal cell cancer on the basis of mutations in the gene encoding fumarate hydratase (FH). Other chromosomal aberrations in UL include trisomy 12, rearrangements involving chromosome 10q, and deletions of 3q.

Epidemiology in the Arab World

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Other Reports

Egypt

Elsobky et al. (2002) undertook a cytogenetic study of uterine leiomyomatas obtained from 16 patients (40-50 years of age), following hysterectomy or myomectomy. The tumors were subjected to karyotyping, and the interpretation of the cytogenetic findings was according to the ISCN, 1995. Routine histopathological examination of the leiomyomas was performed, and SPSS program was used for statistical analysis. The average cross section diameter of the specimens was found to be 4.38 cm, and the average culture time was 14.8 days. Nineteen specimens could be successfully tissue cultured, and karyotyped. Of these, nine showed a normal karyotype, whereas six had an abnormal clonal karyotype. Two of the cases showed del(7)(q22q32) karyotype, as reported in several earlier studies. Elskoby et al. (2002) considered that this region could be harboring a tumor suppressor gene. They also identified two other structural abnormalities - del(2)?t(2;8), and del(22)(q11) - for the first time in uterine leiomyomas. Elskoby and colleagues suggested the presence of genetic heterogeneity in UL and possible new hotspots for chromosome breakage. Non-clonal abnormalities were seen in four specimens, and four different single cell structure anomalies were identified. These were: a breakpoint at 6p21 [t(6;10)(p21;q23)], a breakpoint at 10q22 in two patients [t(6;10)(q21;q22) and t(10;12)(q22;q15)], a breakpoint at 12q15 [t(10;12)(q22;q15)], and del(3)(q24). No association was found between patient age, gravidity, or symptoms and the presence of chromosomal aberrations. The mean diameter of the tumor showed a significant association with the chromosomal abnormalities, with 62.5% of the tumors having a diameter more than 4 cm showing abnormal karyotypes.

[Elsobky ES, El-Gharib MN, Shawky RM, Farhat MA. Cytogenetic studies of uterine leiomyomata. The Egyptian J Med Hum Genet. 2002; 3(1):43-54.]

Iraq

Baban et al. (2008) conducted a study to identify the location of prolactin receptors in cases with Uterine Leiomyomas. A total of 53 women with uterine leiomyomas were included in the study, and 86 leiomyoma samples were taken from them. The mean age of the patients was 39 years. The control group included 40 pregnant women who had Cesarean sections, but had no leiomyomas as confirmed by ultrasound. Among patients, the leiomyloma sections were found to have more prolactin receptors than the myometrium sections from the same patient. In addition, the subjects in the control group had more accumulation of prolactin receptors in their myometrium than the patients' myometrium. Baban et al. (2008) concluded that the results pointed towards an abnormality in the underlying myometrium of the patients.

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