Barr body in fine needle aspiration cytology of ovarian malignancies.

The Barr body is the inactive X chromosome in a female somatic cell. It is readily identified as plano-convex structure of 2-3 micron in diameter on the periphery of the nuclear membrane. The aim of this study is to evaluate the significance of Barr body count in malignant ovarian tumors on fine needle aspiration cytology (FNAC) smears. In this retrospective study, Barr body was counted in FNAC smears of 20 successive malignant ovarian lesions and expressed as percentage. Mean (±SD) Barr body score was 2.4 ± 2.58. Minimum Barr body count was 1 and maximum was 9. The gross reduction of Barr body in ovarian neoplasms is an interesting cytomorphologic finding.

The disappearing Barr body in breast and ovarian cancers.

Interest has recently reawakened in whether loss of the heterochromatic X chromosome (Barr body) is prevalent in certain breast and ovarian cancers, and new insights into the mechanisms involved have emerged. Mitotic segregation errors commonly explain the loss of the inactive X chromosome (Xi), but compromise of Xi heterochromatin in some cancers may signal broader deficits of nuclear heterochromatin. The debated link between BRCA1 and Xi might reflect a general relationship between BRCA1 and heterochromatin, which could connect BRCA1 to both epigenetic and genetic instability. We suggest that heterochromatic instability is a common but largely unexplored mechanism, leading to widespread genomic misregulation and the evolution of some cancers.

Study on koilocytosis, X-chromatin and HSV-2 in cervical smears in Nepal.

A total of 1,106 cervical smears were studied during a one year period from Feb 1999 to Feb 2000. Majority of the lesions were Inflammatory smears constituting 91.0%, Cervical intraepithelial neoplasia [CIN] and Squamous cell carcinoma [SCC] cervix constituted 8.0% and 1.0% respectively. The percentage of different grades of CIN being CIN I 85.0%, CIN II 9.0% and CIN III 6.0%. Thirty cases were taken as a study group. The commonest age group for CIN was 31-40 years 80.0% and for carcinoma cervix above 50 years 63.0%. The most common risk factors were marriage before 20 years of age 80.0% and a low socio-economic status 70.0%. The common presenting feature in CIN was pain lower abdomen 88.0%, followed by whitish discharge per vagina 60.0%. Similarly in carcinoma cervix pain lower abdomen 80.0% followed by weight loss 60.0% were the common presenting symptoms. Koilocytic change was seen in 42.1% of the cases of CIN I. The incidence of X-chromatin positivity gradually decreased as the lesion advanced, the p-value between CIN I and CIN II [p=<0.02], CIN I and CIN III [0=0.00] and between CIN III and Carcinoma cervix [p=<0.004] being significant. An association with Herpes simplex virus-2 [HSV-2] was seen in 11.0% cases of CIN I, 33.0% cases of CIN IIl and 40.0% cases of carcinoma cervix with a gradual rising antibody titre of 1:2 in CIN I, 1:7 in CIN III and 1:7 to 1:9 in carcinoma cervix respectively.

Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome.

A retrospective study was carried out in 152 infertile men to determine the prevalence of sex chromosome abnormalities among non-obstructive azoospermic and severe oligospermic men (n = 51) and to evaluate the feasibility of fluorescence in situ hybridization (FISH) techniques to assess mosaicism in Klinefelter's patients in comparison with conventional cytogenetics. Cytogenetic analysis were performed for 51 infertile men and among 14 chromosomal abnormalities found, nine were compatible with Klinefelter's syndrome. FISH staining with a CEP X/CEP Y probes were performed for Klinefelter's patients and for five of them; testes were biopsied for histopathologic examination. Six Klinefelter's patients showed a non-mosaic 47,XXY and three showed a 47,XXY/46,XY mosaic by G or R banding analysis of 20 cells with a ratio of 17%, 20% and 33%, respectively. FISH analysis confirmed mosaicism in only one patient (the first) in whom a third cells population was found. There was no relationship between the ratios of mosaicism by banding and FISH analysis. Conventional histopathologic findings in five non-mosaic Klinefelter's patients confirm the diagnosis of Sertoli Only Cells syndrome. FISH is recommended in Klinefelter's syndrome to define exactly the cytogenetic statute as mosaic or non-mosaic and then discussing prognosis and decision regarding fertility counseling.

Predictive value of sperm chromatin condensation (aniline blue staining) in the assessment of male fertility.

A case control study was carried out to determine the value of sperm chromatin condensation in the assessment of male fertility. A total of 165 semen samples from 90 patients (cases) and 75 healthy donors (control) were examined for chromatin condensation (aniline blue staining), as well as conventional sperm parameters, notably sperm morphology, sperm count, and progressive motility. Whereas only 55 +/- 12.0% of the samples from the infertile patients were unstained by aniline blue (chromatin condensed), 78 +/- 19.0% of the samples in the control group did not take up the stain (chromatin condensed). A significant difference (p < .001) was observed between the two groups. Similarly, the difference between the mean percentage of morphologically normal spermatozoa for the infertile patients (12.1 +/- 1.2%) and the control (23.9 +/- 1.9%) was very significant (p < .001). In addition, only 50 out of the 90 patients (55.5%) had a normal sperm count, whereas all the 75 (100%) were normal in the control group. By comparing between the two groups a significant difference (p < .001) was also observed. Furthermore, a significant difference (p < .001) was also found between the cases and the control with regard to the percentage of spermatozoa illustrating linear progressive motility (40 +/- 9.7% vs. 70 +/- 12.3%). However, no correlation was found between sperm chromatin condensation and morphology, count, and motility. This study suggests that chromatin condensation constitutes a valuable parameter in the assessment of male fertility, completely independent of conventional sperm parameters. Consequently, the inclusion of chromatin condensation to routine laboratory investigations of semen prior to assisted reproduction is strongly recommended.

Estudio de cromatina X y Y en pacientes epilépticos / X and Y chromatin study in epileptic patients

Algunos autores han informado que las alteraciones en el número de cromosomas sexuales son más frecuentes en pacientes epilépticos. En este trabajo se estudió la cromatina X y Y en una población de pacientes epilépticos con objeto de detectar alteraciones en el número de cromosomas sexuales en ellos. Se estudiaron 608 hombres y 537 mujeres mediante la cromatina X, no encontrándose ninguna alteración en esta prueba. En 279 hombres se determinó la cromatina Y en la cual tampoco se encontraron anormalidades

Barr body frequency in esophageal cancer in Indian women.

In a retrospective study, Barr body frequency was analyzed in 50 consecutive cases of esophageal cancer in females. The majority (95%) of the tumors had less than 20% Barr body frequency (of which 80% showed less than 10%), while normal controls showed 30% to 45% Barr body frequency. The mechanism(s) involved in lowering the frequency is not known at present.

[Sex chromatin in oncomorphology]. / Polovoi khromatin v onkomorfologii.

SCr body is a label of repression of one of the sex chromosomes (X chromosome in women or Y chromosome in men) in the interphase nucleus. By the end of the synthesis period these chromosomes undergo derepression since DNA replication occurs. Thus, by the end of the synthetic and in premitotic periods of the cellular cycle the SCr body disappears. In tumors of various locations, a clear-cut inverse proportional dependence between a decrease in the number of nuclei with SCr bodies and an increase in the mitotic index was demonstrated. Therefore, the CSr test is an index of the growth rate (proliferative activity) of the examined tumor. By this test it is possible to determine the degree of the tumor progression, to assess the mitotic activity in small pieces of biopsy materials. The SCr test may be an additional method for differential diagnosis of malignant tumors.

Histological sexing of a reticulum cell sarcoma arising after liver transplantation.

Nuclear sex determination, based on both X and Y chromatin counts in a reticulum cell sarcoma which arose in the liver 5 months after orthotopic grafting, clearly showed that the tumor was of host origin. The Kupffer cells of the graft were also found to be of host origin, demonstrating that their replacement may occur within 6 months of operation.