Prevalence of cervical dysplasia in western Uttar Pradesh.

INTRODUCTION: Cervical intraepithelial neoplasia and cervical cancer remain important health problems. Cervical cytology by Papanicolaou (Pap) smears is an effective means of screening for cervical premalignant and malignant conditions. AIM: The aim of this study was to assess the prevalence of cervical dysplasia in pre- and postmenopausal women in western Uttar Pradesh and to find out risk factors as far as possible. MATERIALS AND METHODS: A total of 4,703 cases were enrolled, cervical scrape smears were collected and stained using Papanicolaou's method and hematoxylin and eosin stain. The emphasis was put on epithelial abnormalities and smears were classified according to The Bethesda System 2001. RESULTS: 81.06% (3812) smears were satisfactory according to The Bethesda System. Maximum numbers of cases (40.37%) were in age group 30-39 years. The epithelial abnormalities constituted 3.23% of all cases. Low-grade squamous intraepithelial lesion (LSIL) formed the largest number (1.36%), while high-grade squamous intraepithelial lesion (HSIL) formed 0.91%. Eleven cases of squamous cell carcinoma (SCC) were detected. The study has shown a relatively high prevalence of epithelial abnormalities in cervical smears with increasing age, parity, early age at first coitus (<20 year), and lower socioeconomic status in symptomatic women with clinical lesions on per speculum examination. CONCLUSION: Epithelial abnormalities of cervix are not uncommon in our setup and are associated with early age at marriage and parity.

Ultrasound guided fine needle aspiration cytology in the diagnosis of retroperitoneal masses: A study of 85 cases.

BACKGROUND: The diagnosis of retroperitoneal lesions is one of the most difficult areas in surgical pathology. The retroperitoneal space allows both primary and metastatic tumors to grow silently before the appearance of clinical signs and symptoms. Fine needle aspiration cytology has shown promising role in establishing the diagnosis in this region. OBJECTIVES: This study was undertaken to evaluate the reliability of ultrasonography (USG)-guided fine needle aspiration cytology (FNAC) in distinguishing between benign and malignant lesions in the retroperitoneum, and to correlate the diagnosis by cytology of retroperitoneal masses with the results obtained by histology. MATERIALS AND METHODS: The study was carried out on 85 patients presenting over the last five years with retroperitoneal masses on ultrasound. RESULTS: Out of 85 cases, 32 were of kidney, 27 of lymph nodes, 24 of retroperitoneal soft tissues, and two were of the adrenals. Malignant lesions (47) were more common than nonmalignant lesions (38). In the kidney, the maximum number of cases were of renal cell carcinoma (12-38%), followed by Wilm's tumor (6-19%), pyonephrosis (5-16%), renal cyst (4), angiomyolipoma (2), cortical pseudotumor (2), and tuberculosis (1). Out of 27 cases of retroperitoneal lymphadenopathy, 12 cases (44%) were of metastatic carcinoma followed by non-Hodgkin's lymphoma (8-30%), tuberculosis (6-22%), and Hodgkin's lymphoma (1). The two cases of the adrenals were of angiomyolipoma and metastatic carcinoma. Among the 24 soft tissue tumors in the study, seven (29%) were malignant and 17 (71%) were benign (lipoma being the most common benign neoplasm). Results from histopathological investigations were available in 47 cases, out of which 45 were consistent with the FNAC-based diagnoses. Two cases for which the histopathological results were inconsistent with the FNAC diagnoses, were of renal cell carcinoma, which had been diagnosed as renal cysts on cytology. CONCLUSIONS: USG-guided FNAC is an inexpensive, rapid, safe, and accurate procedure for the diagnosis of retroperitoneal masses.

Retrospective and prospective study of ovarian tumours and tumour-like lesions.

Two hundred and thirty three cases of ovarian tumours and tumour like lesions were studied. Of these 233 cases, 96 cases were of ovarian tumours and 137 were tumour like lesions of the ovary. Of the 96 cases of ovarian tumours, 72.9% were benign, 4.1% were borderline and 22.9% were malignant. Histologically surface epithelial tumours were the commonest (48.8%) followed by germ cell tumours (23.9%), sex cord stromal tumours (8.3%) and metastatic tumours (2.0%). Ultrasound guided FNAC done in cases of ovarian tumours showed an accuracy of 100% for malignant lesions and 100% for benign and borderline lesions when compared with histopathological diagnosis. Of the non neoplastic lesions follicular cysts and corpus leuteal cysts were commonest (80.2%). Tuberculosis constituted (2.9%) cases and was the major cause of clinical diagnostic pitfalls for cases in which a clinical diagnosis of ovarian neoplasm was made.

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.

BACKGROUND: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Indian women. We investigated the distribution and the nature of BRCA1 and BRCA2 germline mutations and polymorphisms in a cohort of 204 Indian breast cancer patients and 140 age-matched controls. METHOD: Cases were selected with regard to early onset disease (< or =40 years) and family history of breast and ovarian cancer. Two hundred four breast cancer cases along with 140 age-matched controls were analyzed for mutations. All coding regions and exon-intron boundaries of the BRCA1 and BRCA2 genes were screened by heteroduplex analysis followed by direct sequencing of detected variants. RESULTS: In total, 18 genetic alterations were identified. Three deleterious frame-shift mutations (185delAG in exon 2; 4184del4 and 3596del4 in exon 11) were identified in BRCA1, along with one missense mutation (K1667R), one 5'UTR alteration (22C>G), three intronic variants (IVS10-12delG, IVS13+2T>C, IVS7+38T>C) and one silent substitution (5154C>T). Similarly three pathogenic protein-truncating mutations (6376insAA in exon 11, 8576insC in exon19, and 9999delA in exon 27) along with one missense mutation (A2951T), four intronic alterations (IVS2+90T>A, IVS7+75A>T, IVS8+56C>T, IVS25+58insG) and one silent substitution (1593A>G) were identified in BRCA2. Four previously reported polymorphisms (K1183R, S1613G, and M1652I in BRCA1, and 7470A>G in BRCA2) were detected in both controls and breast cancer patients. Rare BRCA1/2 sequence alterations were observed in 15 out of 105 (14.2%) early-onset cases without family history and 11.7% (4/34) breast cancer cases with family history. Of these, six were pathogenic protein truncating mutations. In addition, several variants of uncertain clinical significance were identified. Among these are two missense variants, one alteration of a consensus splice donor sequence, and a variant that potentially disrupts translational initiation. CONCLUSION: BRCA1 and BRCA2 mutations appear to account for a lower proportion of breast cancer patients at increased risk of harboring such mutations in Northern India (6/204, 2.9%) than has been reported in other populations. However, given the limited extent of reported family history among these patients, the observed mutation frequency is not dissimilar from that reported in other cohorts of early onset breast cancer patients. Several of the identified mutations are unique and novel to Indian patients.