Synovial sarcoma of the ethmoid sinus.

INTRODUCTION: Synovial sarcoma is a malignant mesenchymal tumour typically occurring in the extremities. Its occurrence in the head and neck region, particularly in the paranasal sinuses is extremely rare. CASE REPORT: Here, we report a case of primary synovial sarcoma of the ethmoid sinus in a 36-year-old female and review the literature of synovial sarcomas arising from the ethmoid sinus. Histopathology was essential in confirming the diagnosis. The patient underwent endoscopic excision of the tumour followed by postoperative radiotherapy. DISCUSSION: As per our knowledge, only 2 cases of ethmoid sinus synovial sarcoma have been reported in the English literature till date. Although synovial sarcomas rarely involve the paranasal sinuses, they should be included in the differential diagnosis of paranasal sinus tumours. The accepted treatment modality is wide local excision followed by post operative radiotherapy.

Diagnostic challenges with intraoral myeloid sarcoma: report of two cases & review of world literature.

BACKGROUND: Myeloid sarcomas (MS) are rare extramedullary tumors composed of blasts of myeloid lineage that either precede, follow or present concomitantly with acute myeloid leukaemia (AML) or myeloproliferative neoplasms. The diagnosis of MS is especially challenging in patients without an antecedent history of leukemia. METHODS: We present 2 cases of intraoral MS that presented as de novo lesions. A detailed review of cases of intraoral MS that either preceded or presented along with leukemia has been done with emphasis on diagnostic criteria used. RESULTS: Two male patients aged 28 and 5 years presented with MS with one patient presenting with concomitant AML. A combination of morphological and immunohistochemical methods was used for diagnosis. A thorough review of world literature revealed 44 cases of intraoral MS that presented as de novo lesions. CONCLUSION: Intraoral MS is a rare tumor with poor prognosis. It may be diagnostically challenging due to its protean clinical manifestations and histological overlap with other tumors.

Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients

Introduction: TP53 gene is the most frequently altered tumor suppressor gene in breast cancer. It has been observed that MDM2 plays a central role in regulating the TP53 pathway. This study aimed to investigate the role of TP53 Arg72Pro and MDM2 T309G polymorphisms in breast cancer patients. Material and method: The TP53 (Arg72Pro) and MDM2 (T309G) polymorphisms were studied in a hospital-based case control study by AS-PCR in 100 breast cancer patients and 100 healthy control subjects. Results: It was observed that TP53 Arg72Pro polymorphism was significantly associated with breast cancer (v2 = 9.92, p = 0.007). A significantly increased breast cancer risk was associated with the Proline allele [odds ratio 1.84 (95 % CI: 1.22-2.77), risk ratio 1.34 (95 % CI: 1.11-1.63), p value 0.003], HER2/neu status (p = 0.01) and distant metastasis (p = 0.05). On the other hand, we have found a significant correlation between MDM2 (T309G) polymorphism with HER2/neu status (v2 = 11.14, p = 0.003) and distant metastasis (p value = 0.04). Conclusion: Our finding suggests that TP53 (Arg72Pro) polymorphism may play a significant role as risk factor for breast cancer in north Indian breast cancer patients. While MDM2 (T309G) polymorphism may not be directly associated with the risk of breast cancer occurrence in the same population, but it may play role in disease progression by triggering TP53 (AU)

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Potential impact of (rs 4645878) BAX promoter -248G > A and (rs 1042522) TP53 72Arg > pro polymorphisms on epithelial ovarian cancer patients

Background. In India, Epithelial ovarian cancer has emerged as one of the most common malignancies affecting women. Tumor protein 53 (TP53) induces expression of the B cell lymphoma 2-associated X protein (BAX) gene by directly binding to the TP53-binding element in the BAX promoter. Therefore, we hypothesized that single-nucleotide polymorphism of BAX promoter −248G>A and TP53 72Arg>Pro gene may jointly contribute to ovarian cancer risk. Objectives. This study aimed at exploring the association of BAX promoter −248G>A and TP53 72Arg>Pro gene polymorphism with risk of developing EOC and its clinicopathological features and to evaluate gene-gene interaction of these two polymorphisms with risk of developing EOC. Materials. The study was conducted on 70 Epithelial ovarian cancer patients and 70 healthy controls. Genotyping of p53 codon 72 and BAX promoter gene was examined by ASO-PCR and PICA-PCR, respectively. Odds ratios and 95 % confidence intervals were calculated. Results. We found an increased cancer risk associated with the BAX AA (ORs = 4.1, 95 %, CI = 1.23-13.97) genotype. An increased risk was also associated with the TP53 Pro/Pro (OR = 4.4, 95 % CI = 1.40-13.99) and Arg/Pro genotype (OR = 2.3, 95 % CI = 1.13-4.86). The gene-gene interaction of these polymorphisms increased EOC risk in a more than additive manner (ORs for the presence of both BAX AA and TP53 Arg/Pro genotypes = 8.7, 95 % CI = 1.66-45.48). BAX GG genotype was associated with adverse staging of cancer (P = 0.01). Conclusions. The findings suggest that polymorphism of BAX and TP53 genes may be potential genetic modifiers for developing ovarian cancer (AU)

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Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients.

INTRODUCTION: TP53 gene is the most frequently altered tumor suppressor gene in breast cancer. It has been observed that MDM2 plays a central role in regulating the TP53 pathway. This study aimed to investigate the role of TP53 Arg72Pro and MDM2 T309G polymorphisms in breast cancer patients. MATERIAL AND METHOD: The TP53 (Arg72Pro) and MDM2 (T309G) polymorphisms were studied in a hospital-based case control study by AS-PCR in 100 breast cancer patients and 100 healthy control subjects. RESULTS: It was observed that TP53 Arg72Pro polymorphism was significantly associated with breast cancer (χ (2) = 9.92, p = 0.007). A significantly increased breast cancer risk was associated with the Proline allele [odds ratio 1.84 (95 % CI: 1.22-2.77), risk ratio 1.34 (95 % CI: 1.11-1.63), p value 0.003], HER2/neu status (p = 0.01) and distant metastasis (p = 0.05). On the other hand, we have found a significant correlation between MDM2 (T309G) polymorphism with HER2/neu status (χ (2) = 11.14, p = 0.003) and distant metastasis (p value = 0.04). CONCLUSION: Our finding suggests that TP53 (Arg72Pro) polymorphism may play a significant role as risk factor for breast cancer in north Indian breast cancer patients. While MDM2 (T309G) polymorphism may not be directly associated with the risk of breast cancer occurrence in the same population, but it may play role in disease progression by triggering TP53.

Potential impact of (rs 4645878) BAX promoter -248G>A and (rs 1042522) TP53 72Arg>pro polymorphisms on epithelial ovarian cancer patients.

BACKGROUND: In India, Epithelial ovarian cancer has emerged as one of the most common malignancies affecting women. Tumor protein 53 (TP53) induces expression of the B cell lymphoma 2-associated X protein (BAX) gene by directly binding to the TP53-binding element in the BAX promoter. Therefore, we hypothesized that single-nucleotide polymorphism of BAX promoter -248G>A and TP53 72Arg>Pro gene may jointly contribute to ovarian cancer risk. OBJECTIVES: This study aimed at exploring the association of BAX promoter -248G>A and TP53 72Arg>Pro gene polymorphism with risk of developing EOC and its clinicopathological features and to evaluate gene-gene interaction of these two polymorphisms with risk of developing EOC. MATERIALS: The study was conducted on 70 Epithelial ovarian cancer patients and 70 healthy controls. Genotyping of p53 codon 72 and BAX promoter gene was examined by ASO-PCR and PICA-PCR, respectively. Odds ratios and 95 % confidence intervals were calculated. RESULTS: We found an increased cancer risk associated with the BAX AA (ORs = 4.1, 95 %, CI = 1.23-13.97) genotype. An increased risk was also associated with the TP53 Pro/Pro (OR = 4.4, 95 % CI = 1.40-13.99) and Arg/Pro genotype (OR = 2.3, 95 % CI = 1.13-4.86). The gene-gene interaction of these polymorphisms increased EOC risk in a more than additive manner (ORs for the presence of both BAX AA and TP53 Arg/Pro genotypes = 8.7, 95 % CI = 1.66-45.48). BAX GG genotype was associated with adverse staging of cancer (P = 0.01). CONCLUSIONS: The findings suggest that polymorphism of BAX and TP53 genes may be potential genetic modifiers for developing ovarian cancer.

Unusual Presentation of Necrotic Erythema Nodosum Leprosum on Scalp: A Case Report.

Lepra reactions are acute episodes occurring during the disease process of leprosy and are of 2 types: type 1 or reversal reaction and type 2 reaction or erythema odosumleprosum (ENL). In the episodes of lepra reaction several parts are affected including face and extremities like oral cavity. In the present case report we reported a rare case of lepromatous leprosy with necrotic ENL involving scalp apart from the usual sites. A 58 year old married male presented to us with complaints of spontaneous onset, recurrent eruption of multiple reddish raised painful lesions. Biopsy from the infiltrated skin over the back showed atrophic epidermis, free Grenz zone, diffuse and periadnexal macrophage granulomas with predominant mononuclear infiltrate, appandageal atrophy, fibrosis around the neural structures and leukocytoclastic vasculitis. Fites stain showed strong positivity for M. leprae. His routine blood investigations showed anemia (Hb = 7.8 gm%), neutrophil leukocytosis (TLC = 17,600, DLC = P66L28M4E2) and raised ESR (80 mm in the first hour). These bullous and necrotic lesions in leprosy may be a manifestation of severe type II reactions in patients with very high bacillary load.

Differential expression of novel biomarkers (TLR-2, TLR-4, COX-2, and Nrf-2) of inflammation and oxidative stress in semen of leukocytospermia patients.

Chronic genitourinary inflammation results in Leukocytospermia (LCS), an elevated number of white blood cells (WBCs) in semen, which, in association with oxidative stress, may suppress sperm function, and manifest as male factor infertility. The current clinical diagnosis of LCS employs manual enumeration of WBCs and requires complex staining and laboratory skills or measurement of inflammatory cytokines and chemokines levels. Many patients with idiopathic infertility are asymptomatic. In search of better inflammatory markers for LCS, we evaluated expression of toll-like receptors 2 and 4 (TLR-2/4), cyclooxygenase-2 (COX-2), and nuclear factor (erythroid-derived 2)-like 2 (Nrf-2) in semen samples of age-matched infertile patients with and without LCS. We employed the usage of specific Western blot evaluation, cytokine array; immunofluorescence microscopy (IFM) followed by computer-based analysis, and other molecular approaches. As compared with non-LCS patients (n = 38), semen samples from LCS patients (n = 47) displayed significantly lower total sperm count (p < 0.01), motility (p < 0.0001), normal head count (p < 0.0001), and a significantly higher white blood cell count (p < 0.0001). Differential cytokine profiling of seminal plasma by antibody array revealed up-regulation of several pro-inflammatory chemokines in LCS samples. Western blot analysis of LCS seminal plasma (n = 15) also showed a significant increase in expression of TLR-2 (p < 0.001) and 4 (p < 0.01), COX-2 (p < 0.001), and Nrf-2 (p < 0.001) as compared with semen samples from non-LCS patients (n = 15). Computer-based objective IFM analysis of spermatozoa from LCS patients showed increased expression of TLR-4 (p < 0.001), Cox-2 (p < 0.01), and (Nrf-2) (p < 0.01). Significant differences in the subcellular localization of these proteins were evident in the sperm head and tail segments of LCS samples. Altogether, these observations suggest that TLR-2/4, COX-2, and Nrf-2 can serve as novel biomarkers of inflammation and oxidative stress. Therefore, developing a rapid assay for these biomarkers may facilitate early diagnosis and management of LCS especially in idiopathic and asymptomatic male infertility patients.

Antenatally diagnosed wilms' tumour.

Wilms' tumour (WT) is seldom seen in a neonate and prenatal diagnosis is rare. We present a case of antenatally diagnosed left sided WT with features of hydrops foetalis in a girl baby. Emergency LSCS was done at 34 weeks of gestation for foetal distress. Patient required mechanical ventilation for birth asphyxia and congestive cardiac failure. After stabilization, gross total resection of the tumour was done on day 4 of life. Histopathology HPE confirmed classical WT (stage I). Unfortunately, the patient died on the second postoperative day despite all supportive measures.

Ruptured ectopic pregnancy associated with tubal schistosomiasis.

Endemic in major parts of Africa and Middle East, Schistosoma haematobium is a common cause of recurrent urogenital infections and obstetric complications such as spontaneous abortions, ectopic pregnancies, and low birth weight babies. The involvement of fallopian tubes is not rare in endemic areas and may predispose to ectopic pregnancy and infertility. Indian subcontinent is a very lowrisk region for schistosoma infection. Tubal schistosomiasis is not exceptional in endemic zones, but is rarely found in India. The species most often isolated is S. haematobium. Contamination occurs via vascular anastomoses between the bladder and the genital organs. We report a case of tubal schistosomiasis presenting as ruptured ectopic pregnancy discovered on a surgical specimen after salpingectomy.

Lepromatous leprosy with an uncommon presentation: a case report.

28 yr old male presented with asymptomatic nodules and few well to ill defined papules on ears, asymmetrical nerve enlargement and evanescent tender nodules on the extremities without any infiltration of the skin and madarosis. Slit skin smear done from normal skin was BI 6+. Skin biopsy showed features of lepromatous leprosy.

'Congenital follicular melanocytic naevi': a more appropriate term for spotted grouped pigmented naevi.

We report two patients with an uncommon form of pigmented naevus consisting of grouped follicular papules. A biopsy taken from the lesions showed multiple naevus cells, predominantly around the hair follicles, with sparing of the eccrine glands. The clinicohistopathological term given for this condition is 'spotted grouped pigmented naevi type I', and has rarely been reported. We discuss the unusual morphology and differential diagnosis of this condition, and suggest that the term 'congenital follicular melanocytic naevi' is more appropriate for this presentation.

Paratesticular fibrous hamartoma in an infant.

Fibrous hamartoma of infancy is a rare benign tumour with local infiltration. The lesion is usually found in the upper torso and rarely occurs in the genital region. Diagnosis before surgery is rare, and complete excision is essential to prevent recurrence. We present a case in which fibrous hamartoma of infancy involving the spermatic cord was found. A pre-operative clinical diagnosis could not be made. On inguinal exploration, the tumour could not be dissected away from the testicular vessels, which necessitated an orchidectomy for complete removal. The case is presented due to its rarity and successful management.

Neuralgic amyotrophy associated with dengue fever: case series of three patients.

Dengue is an acute mosquito borne viral infection caused by one of the four distinct serotype of dengue viruses (type 1-4), belonging to flavivirus family. Dengue fever, an arboviral infection is known to cause various neurological complications. Commonly reported neurological manifestations associated with dengue infection are encephalopathy, myelopathy, stroke, Guillain-Barre syndrome and hypokalemic paralysis. Brachial amyotrophy associated with dengue infection were not described previously. Here, we describe three patients presenting with brachial neuritis associated with dengue infection. Dengue infection should be considered in the etiological list of brachial neuritis in dengue endemic areas, especially if preceded by history of febrile illness compatible with dengue illness.

A retrospective study of 18 cases of adenoid cystic cancer at a tertiary care centre in Delhi.

CONTEXT: Adenoid cystic carcinoma (ACC) is a rare neoplasm that usually arises from the salivary, lacrimal, or other exocrine glands. It is characteristically locally infiltrative in nature and has a tendency toward local recurrence, high propensity for perineural invasion, and prolonged clinical course. AIM: To analyze the presentation and natural history of cases of adenoid cystic tumors of salivary glands in our institution; and to compare with the existing literature. DESIGN AND SETTING: Retrospective study at the Department of Radiotherapy. MATERIALS AND METHODS: Data on 18 patients of ACC of the salivary glands treated between 2004 and 2008 were reviewed with respect to clinical presentation, stage, and histology. RESULTS: There were 8 cases of major salivary gland tumors (47%), of which 2 were in the submandibular and 6 were involving the parotid. Ten patients (53%) had minor salivary gland involvement. Two patients had metastasis at the time of presentation. All patients underwent surgery. Radiotherapy was delivered to 16 patients and chemotherapy to 6 patients (concurrent, n = 3 and adjuvant, n = 3) and no adjuvant therapy was given to 2 patients. All patients were alive at a median follow-up of 3 years. No patient developed local or distant failure during the study duration. CONCLUSION: ACC has locally aggressive behavior. Radiotherapy adjuvant to surgery improves local control in locally advanced disease. Longer follow-up is mandatory in view of incidence of late metastasis.