Characterization of genetic polymorphisms in oral cancer-related genes pertaining to oxidative stress, carcinogen detoxifying, and DNA repair: A case-control study.

Background: The genetic polymorphism in the DNA repair and maintenance genes leads to mutations and deregulated growth hormones which have implications in cancer. Apart from identified carcinogens such as tobacco, specific genetic polymorphisms correspond to an individual's risk of oral cancer. The current study aims at identification of differences in genetic polymorphisms in subjects with and without oral cancer in Karad, India. Aim/Objectives: The aim of the study was to characterize genetic polymorphisms in oral cancer-related genes pertaining to oxidative stress, carcinogen detoxifying, and DNA repair. Methodology: A hospital-based case-control was conducted with 150 subjects sorted into cases (n = 75) and controls (n = 75). The polymerase chain reaction-based restriction fragment length polymorphism assay was used to genotype the polymorphisms of selected DNA repair, detoxifying, and oxidative stress-related genes. Results: In the cases group, among the DNA repair set, Gene-1 (XRCC1), Gene-3 (XRCC3), Xeroderma Pigmentosum Group-D gene (XPD), and human 8-oxoguanine DNA glycosylase (hOGG1) showed significant genetic polymorphism. Similarly, the genetic polymorphism in the carcinogen detoxifying genes-n-acetyl transferase, GSTP1, and oxidative stress-related gene catalase were noted. Statistical Analysis: The Cramer's V/odds ratio was applied to estimate the association of genetic risk factors with oral cancer. Conclusion: The polymorphisms of XRCC1, XRCC3, XPD, and hOGG1 genes were associated with a higher susceptibility to oral cancer as compared to controls. This information may be a useful novel marker in oral oncology for primary prevention and intervention.

Oral teratoma.

For congenital teratomas, oropharyngeal cavity is one of the rarest sites (2% of all teratomas). They are rarely picked up by prenatal ultrasonography. Postnatally, newborns present with respiratory distress and at this point role of pediatricians is very crucial in establishing secure airway after which they need to be carefully evaluated and surgically managed. We present a female neonate with palatal teratoma which was treated successfully with surgery.

Primary adenosquamous carcinoma of ampulla of Vater-A rare case report.

INTRODUCTION: Primary adenosquamous carcinoma (ASC) of the ampulla of Vater (AmV) is extremely rare. Carcinoma of the ampulla of Vater tends to manifest early due to biliary outflow obstruction, as opposed to pancreatic neoplasms that often are advanced at the time of diagnosis. Periampullary carcinomas are treated by pancreaticoduodenectomy (PD). Adenosquamous carcinoma carries very dismal prognosis. PRESENTATION OF CASE: Here we present a case of 58-year-old male who was presented with abdominal pain, jaundice and anorexia with no history of (h/o) pruritus and clay colored stool. All blood investigations were normal except liver function tests (LFTs). Ultrasonography (USG) of abdomen suggestive of periampullary mass with dilated pancreatico-biliary tree. Endoscopic retrograde cholangiopancreatography (E.R.C.P.) demonstrated large deformed and bulky papilla with ulcerated lesion with infiltration in to duodenum. Exploratory laprotomy proceeds Whipple's pancreaticoduodenectomy done. Histopathology revealed adenocarcinoma of the ampulla of Vater. Immunohistochemistry was confirmatory of adenosquamous carcinoma. DISCUSSION: Adenosquamous carcinoma (ASC) is defined as a tumor in which both glandular and squamous elements are histologically malignant. Compared to adenocarcinoma, ASC of the AmV is a rare malignancy. Preoperative diagnosis is difficult because of the lack of defining characteristics in imaging studies and the difficulty in acquiring both malignant components by limited biopsy. Periampullary carcinomas are treated by pancreaticoduodenectomy. CONCLUSION: Adenosquamous carcinoma is a very rare form of cancer of the AmV. Pancreaticoduodenectomy is the treatment of choice though early recurrence and distal metastasis may be encountered after surgery. Follow-up should be more frequent to detect possible early recurrence and distal metastasis.

Multiple giant intra abdominal lipomas: A rare presentation.

INTRODUCTION: Solitary or multiple lipomas, composed of mature fat, represents by far the most common benign mesenchymal neoplasm occurring throughout the whole body, but they rarely originate in the intestinal mesentery. PRESENTATION OF CASE: A 60-year-old male presented with left sided abdominal distension and pain since 4 months, ultrasonography and computerized tomography abdomen was suggestive of multiple well-defined fat density lesions in the lower abdomen and pelvis. USG guided fine needle aspiration cytology was conclusive of a spindle cell lesion. Exploratory laparotomy was performed and multiple major fat tissue swellings were excised. Histopathology confirmed it to be spindle cell type of lipoma. DISCUSSION: Because of the silent nature the exact prevalence of lipomas is unknown. It can arise in any location in which fat is normally present, reported intra abdominal lipomas have been very rare. Clinical manifestations depend on the size and location of the growth. In most patients, symptoms are few or absent. USG and CT scan abdomen are used for the diagnosis. Complete surgical excision being the only treatment. CONCLUSION: Intra abdominal lipoma is a very rare entity, and many cases might be ignored due to their silent nature. They might or might not present with any symptoms. Complete surgical excision being the only treatment, with a very good prognosis.

Adenoid cystic carcinoma of female breast: A case report.

INTRODUCTION: Adenoid cystic carcinoma (ACC) of the breast is a rare neoplasm accounting for 0.1% of breast carcinomas. PRESENTATION OF CASE: A 30 year old female patient presented with multiple lumps in the right breast. Excision biopsy of a lump in the lower outer quadrant revealed adenoid cystic carcinoma. A right sided modified radical mastectomy (MRM) was performed, with axillary clearance. Histopathology revealed a fibroadenoma accounting for one mass and adenoid cystic carcinoma in another, confirmed on Periodic acid Schiff (PAS) staining. Three out of the eight excised axillary lymph nodes contained malignancy. There was no evidence of recurrence or distant spread at follow-up 6 months postoperatively. DISCUSSION: ACC of the breast is a rare neoplasm accounting for 0.1% of breast carcinomas and is of special interest because of its favourable prognosis and distinctive histological appearance. This tumor occurs predominantly in women in their sixth decade and usually presents as a tender breast mass, often in the subareolar area though in our case it was not tender and presented as multiple lumps in the right breast. The diagnosis can be made on fine needle aspiration cytology (FNAC), but in our case FNAC was inconclusive. We performed MRM with axillary clearance, and three out eight lymph nodes proved positive for malignancy. CONCLUSION: ACC is a rare malignant neoplasm. Surgical treatment is the mainstay with little role for radiotherapy and chemotherapy according to the published literature.

Primary angiosarcoma of breast: A case report.

INTRODUCTION: Primary breast angiosarcoma is a rare form of breast cancer, accounting for only 0.04% of all malignant breast tumours. PRESENTATION OF CASE: A 28-year-old woman presented with a progressive lump in the right breast for one month. Fine needle aspiration cytology (FNAC) was highly suspicious of angiosarcoma, and this diagnosis was confirmed on core needle biopsy. Modified radical mastectomy was performed as sole treatment. DISCUSSION: Primary breast angiosarcoma is a rare type of breast malignancy, usually occurring in the third to fourth decade and only reported in women. The histological features of angiosarcoma of the breast are conventionally graded I, II or III. Total mastectomy appears to be the only treatment conferring benefit, chemotherapy and radiation therapy being of little proven value to date. The 5-year disease-free survival for grade I tumours can be as high as 76%, and up to 70% for grade II tumours whereas for grade III tumours it is reportedly about 15%. CONCLUSION: Primary angiosarcoma of the breast is a rare malignancy with a poor prognosis, even after complete resection. Surgery is the mainstay of treatment with a limited role for chemotherapy and radiotherapy.