Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis. This is the second case of DHA stone being reported in India and the first case in India to document the mutation of the APRT gene on blood DNA analysis.

Incidentally detected clear cell renal cell carcinoma with rhabdoid differentiation.

Renal cell carcinoma with rhabdoid differentiation (RCC-R) has an aggressive biologic behavior and poor prognosis. A recent consensus statement of the International Society of Urological Pathology (ISUP) proposed a nucleolar grading system (ISUP grade) for RCC to replace Fuhrman system and recommended reporting the presence of rhabdoid differentiation and considering tumors with rhabdoid differentiation to be ISUP Grade 4. We report a case of incidentally detected clear cell RCC-R in a 52-year-old man. This is one of the earliest cases of RCC-R (pT1b) detected and first such case from Indian subcontinent.

Mucinous eccrine carcinoma of the eyelid: re-emphasizing the need for awareness of rare lesions.

We report here the case of a man presenting with mucinous eccrine carcinoma (MEC) involving eyelid. This is a rare adencocarcinoma of the skin that originates from the deepest portion of eccrine sweat duct. The aim of our paper is to underline the importance of distinguishing MEC from metastatic carcinomas of the skin, making clinicians aware that what seems to be a harmless benign lesion may be a malignant one.

Laparoscopic management of a hydatid cyst of the adrenal gland.

Hydatid disease is endemic in parts of India, yet genitourinary involvement is rare. Laparoscopic management of such cases is uncommonly reported. We present a case of an adrenal hydatid and its management by laparoscopic aspiration, instillation of scolicidal solution, and partial excision of the cyst.

Recurrence of ANCA-negative renal-limited pauci-immune glomerulonephritis in the renal allograft.

Renal transplantation is the treatment of choice for end-stage renal disease (ESRD) due to pauci-immune crescentic glomerulonephritis (PICGN). A small subgroup of patients with PICGN are anti-neutrophil cytoplasmic antibody (ANCA) negative. We report a case of a patient with ANCA-negative renal-limited form of PICGN who developed ESRD despite treatment. He underwent live-related renal allograft transplantation after 12 months on haemodialysis. In the eighth post-transplant month, he developed graft dysfunction, which on evaluation turned out to be a graft recurrence of the basic disease in the form of PICGN. He received treatment with methylprednisolone, cyclophosphamide and plasmapheresis. However, his renal functions did not improve and he developed graft loss in the 11th post-transplant month and was started on continuous ambulatory peritoneal dialysis. We report a rare recurrence of renal-limited PICGN in the allograft. Patients with PICGN undergoing renal transplantation should be followed up carefully, and an early biopsy should be performed in the case of graft dysfunction to deal with this potentially graft-threatening complication.

Nuclear expression of ß-catenin and stem cell markers as potential prognostic indicators in medulloblastoma.

AIMS: To study the prognostic role of ß-catenin and stem cell markers in medulloblastoma (MB). MATERIALS AND METHODS: Sixty cases of MB were retrospectively analyzed to study the expression of ß-catenin, CD15, and CD133 by immunohistochemistry. Their expression was correlated with histological subtypes and event-free survival (EFS). Patients were divided into Group 1 and 2 based on non-occurrence and occurrence of events during the follow-up period. RESULTS: Fifty of the 60 cases were of classic type of MB while nine were of desmoplastic subtype and one case showed chondroid and rhabdomyoblastic differentiation. Immunoreactivity for ß-catenin was observed as nuclear and/or cytoplasmic positivity within the tumor cells. Forty-one (68.3%) cases showed cytoplasmic positivity, while nuclear positivity was seen in 21 (35%) cases. There was a significant correlation between nuclear expression of ß-catenin and different histological subtypes by Chi-square test (P value<0.05). A statistically significant positive correlation of ß-catenin nuclear positivity with EFS was observed. Among 60 cases, 37 cases (67.3%) showed presence of CD15+ tumor cells with percentage of positivity varying between 0.1 to 17.1%. Overall, 42 of 60 (70%) cases showed presence of CD133+ cells. The percentage of positivity varied between 0.1 to 16.5%. A statistically significant negative correlation of CD15 and CD133 positivity with EFS was observed. CONCLUSIONS: Nucleopositive ß-catenin cases were associated with a favorable outcome on univariate analysis. Both CD15 and CD133 positivity were associated with a worse outcome on univariate analysis.