CLINICAL-CYTOGENETIC CORRELATIONS IN UTERINE LEIOMYOMAS

1. CLINICAL-
CYTOGENETIC
CORRELATIONS IN
UTERINE
LEIOMYOMAS
Aboubakr Elnashar ( MD Ob/Gyn)
Eman Elnashar (MD His.&Cyt.)
Benha University Hospital,
Egypt
ABOUBAKR ELNASHAR

2. Although uterine myomas are common, the
pathogenesis & natural evolution remain poorly
understood.Uterine leiomyomas are endocrine-
dependent tumors whose size & growth are influenced
by estrogens & progesterone.There is an unexplained
difference in response between myomas
(Maheux et al,1991).
The early belief that benign tumors were free of
chromosomal changes has now been abandoned
(Sandberg,1980)
ABOUBAKR ELNASHAR

3. VALUE OF CYTOGENETIC STUDIES
(Aurella et al,1992)
1. Proving the presence of mutations as an
initiating factors for cellular proliferation.
2. Finding correlation between chromosomal
changes & the course of benign v. malig. tumors.
3.Correlating the cytogenetic findings & sym.
,response to hormone therapy,size & recurrence
4. D.D. between benign & malignant tumors when
histopathology is uncertain
ABOUBAKR ELNASHAR

4. AIM OF THE WORK
Determine the prevalence of clonal chromosomal
abnormalities in uterine leimyomas
& its correlation with patient age & tumor size &
location.
ABOUBAKR ELNASHAR

5. MATERIALS AND METHODS
A total of 73 benign uterine leiomyomas were
included in the study.
Tissue samples were obtained for histopathological
examination & karyotyping
ABOUBAKR ELNASHAR

6. RESULTS
Growth in culture was obtained in 60
samples(82%) &
Cytogenetic analysis revealed clonal
abnormalities in 23 (38%) specimens
ABOUBAKR ELNASHAR

7. Types of cytogenetic abnormalities(n=23)
. 7q deletion 8(35%)
12q14-15 5(22%)
t(12;14) (q15-q24) 3(13%)
6p21 2(9%)
12q, 7q,& 6p 2(9%)
14q24 1(4%)
t(1;2)(p36-p24) 1(4%)
Trisomy12 1(4%)
Deletion of chromosome7 is the most common cytogenetic
abnormality indicating that loss of the genetic material from the long
arm of this chromosome is critical for tumor development
(Ozisik et al,1993)ABOUBAKR ELNASHAR

8. Age(Y) No. karyotyping
Normal Abnormal
<40 30 20(67%) 10(33%)
40-50 23 13(57%) 10(43%)
>50 7 4(57%) 3(43%)
Total 60 37(62%) 23(38%)
No correlation between patient age &
incidence of abnormal karyotyping
ABOUBAKR ELNASHAR

9. Size(cm) No. Karyotyping
Normal Abnormal
All myomas
<4 42 29(67%) 14(33%)
>4 18 10(59%) 7(41%)
Premenopause
<4 25 15(60%) 10(40%)
>4 9 5(66%) 4(44%)
Postmenopause
<4 17 11(65%) 6(35%)
>4 9 4(44%) 5(56%)
No correlation between karyotype & size in premenopausal,
whereas the correlation was highly significant in the
postmenopausal women(Karyotypically abnormal myomas are less
steroid hormone-dependent than are karyotypically normal myomas)
ABOUBAKR ELNASHAR

10. Location & karyotype of uterine myomas
Location No. Karyotype
Normal Abnormal
Submucous 8 6(75%) 2(25%)
Intramural 25 14(66%) 11(44%)
Subserous 27 17(63%) 10(37%)
Submucous myomas significantly have fewer abnormal
karyotypes than did intramural or subserous myomas
Subendometrial myometrium or junctional zone,is
structurally & functionally different from the outer
myometrium(Brosen et al,1995)ABOUBAKR ELNASHAR

11. CONCLUSION
1.Clonal abnormalities occurred in 38% of ut. myomas
& were not related to patient age
2.The most frequent abnormality is 7q del.
3.No correlation between karyotype & tumor size in
premenopausal, whereas the correlation was highly
significant in postmenopausal women
4. Submucous myomas significantly have fewer clonal
abnormalities than intramural or subserous myomas.
ABOUBAKR ELNASHAR

12. Our study support the hypothesis that clonal
chromosomal abnormalities alter the hormone
dependency & possibly the natural history of uterine
myomas.
The assumption that a small myoma well become a
large one, which often is used to justify its surgical
removal, may not be true for all myomas.
ABOUBAKR ELNASHAR

13. ABOUBAKR ELNASHAR