Cytogenetic analysis of patients with primary amenorrhea in Eastern India.

Amenorrhea is the absence of menstruation in women of reproductive age. Previous reports suggest that chromosomal abnormality is the second most common cause of amenorrhoea. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This was an observational study which was conducted in Vivekananda Institute of Medical sciences, Kolkata, during January 2013-December 2015. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in Eastern India and correlate their hormonal profile with chromosomal reports. Clinical features of 150 patients were recorded with clinical expertise. Peripheral venous blood was taken following informed consent, followed by karyotyping for chromosomal analysis. Results revealed 76.1% of PA with normal female karyotype (46, XX) and 23.9% with different abnormal karyotypes. Among the abnormal karyotype constituents, 50% numerical abnormalities, most frequent being Turner syndrome, pure (n = 12, 8%) and mosaic (n = 5, 3.3%). Three cases (2%) showed male (XY) karyotype. The other cases showed X structural abnormalities. This study emphasises the need for cytogenetic analysis as integral part of the diagnostic protocol in case of PA for precise identification of chromosomal abnormalities and for appropriate management and counselling of these patients.

Is There Any Role of Arsenic Toxicity in HPV Related Oral Squamous Cell Carcinoma?

Arsenic is a potent human carcinogen affecting the rate of cancer deaths worldwide. In India, West Bengal is the worst affected state by arsenic. To our best knowledge, this is the first study relating arsenic toxicity with oral carcinoma, along with HPV infection, the latter being well established in western countries. To find out a possible correlation between arsenic toxicity and oral carcinoma in the population of West Bengal, in or without any association with human papilloma virus infection. Ethical clearance of this study was obtained from the institutional committee. One hundred and four malignant and 103 premalignant cases were selected for this study along with 200 healthy age and sex-matched individuals selected as control (100 each for malignant and premalignant) (2013-2017). On proper consent, their buccal swab and hair samples were assessed for the presence of HPV DNA by DNA extraction, followed by PCR and arsenic estimation by flow injection hydride generation atomic absorption spectrometry respectively. A very highly significant correlation has been observed between arsenic toxicity, HPV infection and the occurrence of oral carcinoma (p value = 2.18e-06; p value = 0.00100 respectively). A correlation has also been observed between these two factors simultaneously, contributing to this malignancy (phi coefficient = 0.2194839). A statistically significant correlation observed between this metal toxicity and viral infection in the occurrence of oral carcinoma in this population indicates a possible symbiotic role between these two factors in this malignancy.

Cytogenetic and micronuclei study of human papillomavirus-related oral squamous cell carcinoma.

BACKGROUND: The association of human papilloma viral infection in oral squamous cell carcinoma is well studied in the Western countries, but its correlation with DNA damage in the form of micronuclei (MN) formation, ceased apoptosis or presence of chromosomal abnormalities has not yet been studied. AIM: The aim of this study is to find any possible correlation between human papillomavirus (HPV) infection and cytogenetic damage in the oral malignant and premalignant population of West Bengal. SETTINGS AND DESIGN: A total of 104 malignant and 103 premalignant cases were selected along with 200 controls. METHODS: The buccal smear samples were Pap stained for the detection of MN, apoptosis frequency and koilocytes. The buccal swab samples were processed for DNA extraction followed by polymerase chain reaction for the detection of HPV DNA. The peripheral venous blood samples were processed for the detection of any chromosomal abnormality, by the method of human leukocyte culture followed by Giemsa staining. STATISTICAL ANALYSIS USED: Correlation analysis using GraphPad Prism software was used in this study. RESULTS: About 34.6%, 42.3% and 6.73% of malignant and 6.79%, 3.88% and 20.38% of premalignant cases showed the presence of HPV DNA, koilocytes and apoptosis, respectively. The difference between the MN frequencies of premalignant and malignant oral lesions with the control group is significant with respect to various risk factors (P < 0.05). One percentage of malignant cases showed the presence of chromosomal break. CONCLUSION: A considerable percentage of malignant cases showing the presence of koilocytes and viral DNA may indicate the effect of HPV infection leading to the malignancy, which can be correlated with the MN and apoptosis frequency.

Incidence of Fanconi anaemia in phenotypically normal aplastic anaemia patients in West Bengal.

OBJECTIVES: Fanconi anaemia (FA) is a rare inherited bone marrow failure and autosomal recessive blood disorder. FA patients have a higher risk of cancer, including acute myeloid leukaemia and squamous cell carcinoma. Maximum, but not all, affected individuals have one or more somatic abnormalities, including skin, skeletal, genitourinary, gastrointestinal, cardiac and neurological anomalies, etc. Positive stress cytogenetics has immense implications for the treatment and management of FA. The aim of our study was to find out the incidence of FA in the population of phenotypically normal aplastic anaemia (AA) patients in West Bengal. METHODS: Ethical clearances were obtained from the corresponding institutional committees. A total of 117 AA cases was selected. Stress cytogenetics was performed from peripheral venous blood (PVB) samples of 63 AA patients (age ≤ 50 years) and 63 age- and sex-matched healthy individual (control) using Mitomycin C (MMC). RESULTS: Out of 63 AA patients, 6 (9.25%) cases showed positive stress cytogenetics suggestive of FA, which is statistically significant (p-value - 0.000532), analysed by chi-square test. DISCUSSION: A considerable percentage of patients showing sensitivity towards MMC, even if they are phenotypically normal and did not have any distinguishable features which are generally found in FA. CONCLUSION: This observation may indicate that stress cytogenetics analysis of phenotypically normal AA patients (≤50 years) is essential for the improvement of the treatment procedure.

Study of arsenic exposure in oral/oropharyngeal carcinoma in West Bengal.

OBJECTIVES: To study any possible correlation between arsenic toxicity and the development of oral carcinoma in West Bengal population. MATERIAL AND METHODS: Ethical clearance for this study was obtained from the Vivekananda Institute of Medical Sciences. Out of 30 785 patients attending our hospital from November 2012 to July 2015, 107 cases and 50 control individuals were selected. The hair and buccal smear samples were obtained upon their consent for the purpose of the analysis of arsenic count and cytogenetic damage, respectively. RESULTS: Ninety-six percent of cases came from the highly arsenic affected districts and 81.3% showed their arsenic count above the safe limit (0.8 µg/g) whereas 96% of the controls' arsenic count was within the safe limit. The study showed a significant difference of the micronuclei and apoptosis frequency between the cases and controls. CONCLUSIONS: The difference of micronuclei and apoptosis frequency between cases and controls was significant. The maximum number of cases came from highly arsenic affected areas and a higher percentage of cases showed elevated arsenic count, as compared to controls, which may indicate a possible link between arsenic toxicity and this disease. However, a larger sample size is required for a proper correlation. Int J Occup Med Environ Health 2017;30(2):271-279.