Significance of genetic analysis in adult patients with inherited chronic kidney disease.

Genetic focal segmental glomerulosclerosis (FSGS) is an important but underestimated cause of inherited proteinuric chronic kidney disease (CKD) in adults. We discuss a case of familial CKD due to inverted formin 2 (INF2) gene mutation, where three siblings had disparate phenotypic presentations ranging from CKD with subnephrotic proteinuria to nephrotic-range proteinuria with collapsing FSGS on kidney biopsy over a period of 8 years. The youngest sibling was the index case. The family agreed to undergo genetic testing only after two more siblings were diagnosed with kidney disease. This case highlights how clinical heterogeneity, absence of family history in the index case, initial lack of specific biopsy-proven diagnosis and reluctance to undergo genetic testing can delay the diagnosis of genetic kidney disease in adults.

Pleomorphic liposarcoma of the male breast: lessons from a rare malignancy during COVID-19 pandemic.

A 52-year-old man presented with a recurrent right side breast lump. He had undergone excision of a lump on the right breast followed by adjuvant chemoradiotherapy 1 year ago for a diagnosis of pleomorphic liposarcoma. Imaging revealed a 47×36 mm lesion on the right side of the chest wall involving the pectoralis muscle. The patient underwent right radical mastectomy. Histology of the specimen showed an undifferentiated pleomorphic sarcoma infiltrating into the underlying skeletal muscle. Therefore, he was planned for chemoradiotherapy. But due to lockdown during the COVID-19 pandemic, he was lost to follow-up and later presented with malignant pleural effusion. This case emphasises the impact of COVID-19 pandemic over such rare malignancies.

Curious case of myxoid adipocytic tumour with ureteropelvic junction obstruction in horseshoe kidney: dilemma in management.

Isolated renal involvement by myxoid adipocytic tumour is a very rare presentation. We are reporting a horseshoe kidney with ureteropelvic junction obstruction (UPJO) with myxolipoma, which was revealed after routine histopathological evaluation postbilateral open pyeloplasty. We evaluated the patient thoroughly and after detailed discussions with the patient and parents, took the decision to manage the patient on active surveillance with interval imaging and renal dynamic scans. Managing a myxolipoma associated with UPJO is a novel experience as a surgeon, by virtue of its extreme rarity. Isolated myxolipoma of renal pelvis in association with UPJO and horseshoe kidney has never been reported earlier to the best of our knowledge. The patient has not progressed at follow-up of 30 months with occasional mild abdominal discomfort. We intend to closely monitor the patient in similar fashion. Any significant progression of disease or renal failure shall entail nephrectomy with excision of mass and subsequent renal replacement therapy.

Granular Cell Tumor of Cecum: A Common Tumor in a Rare Site with Diagnostic Challenge.

Granular cell tumor (GCT) also known as Abrikossoff's tumor is a benign neoplasm that is usually seen in the fourth to sixth decades of life with slight female preponderance. It is most frequently seen in the oral cavity, skin, and subcutaneous tissue. Gastrointestinal tract involvement is uncommon, in which esophagus is the most commonly affected site. There are case reports of GCT in stomach, appendix, colon and rectum. In this article, we report a case of GCT involving cecum. The cell of origin in GCT is controversial. There are various pools of thoughts regarding its histogenesis, the details of which are reviewed in this article with emphasis on the diagnostic difficulties encountered in this tumor.