DNA base excision repair genes variants rs25487 (X-ray repair cross-complementing 1) and rs1052133 (human 8-oxoguanine glycosylase 1) with susceptibility to ovarian cancer in the population of the Jammu region, India

Background: Ovarian cancer is highly prevalent in the population of Jammu, in India; the ovarian cancer ranks third among other types of cancer prevalent in females. However, association studies on ovarian cancer are lacking in this region. We aimed to investigate the disease susceptible variants rs1052133 (human 8-oxoguanine glycosylase 1 [hOGG1]) and rs25487 (X-ray repair cross-complementing 1 [XRCC1]) with ovarian cancer in population of Jammu, India. Materials and Methods: The study conducted in the Shri Mata Vaishno Devi University is a 3-year study which included a total of 280 well-characterized samples (130 ovarian cancer cases and 150 healthy controls). hOGG1 and XRCC1 polymorphisms were determined by polymerase chain reaction-based restriction fragment length polymorphism, and these genotyping results were confirmed by Sanger sequencing. Hardy–Weinberg equilibrium for both single-nucleotide polymorphisms (SNPs) was assessed using the Chi-square test. The allele and genotype-specific risks were estimated by odds ratios with 95% confidence intervals. Results: In this preliminary study, SNP rs1052133 showed protection with ovarian cancer (P = 0.042). The SNP rs25487 was not found associated with ovarian cancer (P = 0.271). Conclusion: Our results indicate that the G allele of rs1052133 imparts protection to the population whereas variant rs25487 was not associated with ovarian cancer in population from the Jammu region, indicating that larger sample size is needed for further statistical validation. Further, association of other SNPs in these genes should also be carried out as their role cannot be ruled out.

Histological Patterns in Fallopian Tube Pathology - A Retrospective Study of 200 Consecutive Cases.

The present study was undertaken to evaluate the histological patterns in the various pathological lesions of the fallopian tube. Histology slides of 200 gynaecological specimens containing one or both the fallopian tubes were studied retrospectively and the morphological patterns observed in different tubal pathologies were documented. Tubal pathology was observed in 31% (62/200) of the cases studied. Salpingitis, accounting for 12% (24/200) of the cases was the most common lesion followed by ectopic tubal gestation (10.5%), paratubal cysts (4%), haematosalpinx (1.5%), endometriosis (1%) and torsion of the tube (1%) in decreasing order of frequency. No primary neoplasm of the fallopian tube was observed, however, there were two cases of secondary involvement of the tube by a dysgerminoma ovary and a squamous cell carcinoma of the cervix respectively. Fallopian tubes are primarily involved by inflammatory pathology which manifests either as infertility or as ectopic tubal pregnancy. Recently, the fimbrial end of the tube has been recognized as the site of origin of high grade serous ovarian and peritoneal cancers. Hence, a thorough examination of the fallopian tubes in each gynaecologic specimen is essential for early detection and treatment of these conditions.

Congenital Leukemia.

Congenital leukemia is a rare disease that can manifest soon after birth. Cutaneous involvement consists of red, brown or purple papules or nodules and purpura. We present a case of congenital myelomonblastic leukemia in a seven week old infant who had petechiae and subcutaneous nodules. Diagnosis was established by the presence of leukemic cells in bone marrow and involved skin along with cytochemical characterization of these cells.

Cutaneous Sarcoidosis.

We present a case of exclusive cutaneous sarcoidosis with no clinical or radiological evidence of disease anywhere else in the body.Exclusive cutaneous involvement is rare and is reported in about 4.5%patients of sarcoidosis.

Inflammatory Fibroid Polyp of Ileum

Inflammatory fibroid polyps are uncommon but well documented solitary polypoid lesions occurring in gastrointestinal tract ; most commonly in stomach followed by ileum and rarely in colon ,duodenum and oesophagus. Polyps in ileum most commonly present with acute intestinal obstruction as aresult of intussusception. The lesions are characterized by variable proliferation of fibroblasts and small vessels which may involve the whole thickness of the bowel wall .Mast cells and Eosinophils are also seen in the polyp.

Primary Adenocarcinoma of Appendix Presenting as Omental Metastasis

The adenocarcinoma of appendix is a rare entity The patients present usually with symptoms of appendicitis, a palpable abdominal mass or rarely as a complication of pseudomyxoma peritonei, We report a case who presented with lump abdomen and ascitis and revealed a tiny infiltrative growth at the base of appendix at laparotomy.