68 Ga-DOTATATE PET/CT imaging in endogenous hyperinsulinemic hypoglycemia: A tertiary endocrine centre experience.

OBJECTIVE: Literature regarding utility of 68 Ga-DOTATATE PET/CT in insulinoma localization across various subgroups [benign/malignant/multiple endocrine neoplasia-1 (MEN-1) syndrome associated] remains scarce. In this study, the performance of 68 Ga-DOTATATE PET/CT was compared with contrast-enhanced computed tomography (CECT) and 68 Ga-NODAGA-Exendin-4 PET/CT (whenever available) in an endogenous hyperinsulinemic hypoglycemia (EHH) cohort. DESIGN: Retrospective audit. PATIENTS: EHH patients [N = 36, lesions (n) = 49, final diagnosis: benign sporadic insulinoma (BSI) (N = 20), malignant insulinoma (N = 4, n = 14), MEN-1 syndrome associated insulinoma (N = 9, n = 15), Munchausen syndrome (N = 2) and drug-induced hypoglycemia (N = 1)] having both preoperative imaging modalities (CECT and 68 Ga-DOTATATE PET/CT). MEASUREMENTS: Per-lesion sensitivity (Sn) and positive predictive value (PPV) for histopathological diagnosis of insulinoma. RESULTS: Sn and PPV of 68 Ga-DOTATATE PET/CT were 67.3% and 89.2%; 55% and 100%; 85.7% and 100%; and 66.7% and 77% for overall EHH, BSI, malignant, and MEN-1 syndrome associated insulinoma cohorts respectively. Despite having comparatively lower sensitivity in BSI cohort, 68 Ga-DOTATATE PET/CT localized a pancreatic tail lesion missed by other modalities. 68 Ga-DOTATATE PET/CT had comparatively higher sensitivity in malignant insulinoma than BSI cohort. 68 Ga-DOTATATE PET/CT also paved the way for successful response to 177 Lu-based peptide receptor radionuclide therapy (PRRT). In MEN-1 cases, lower PPV as compared with BSI was due to uptake in non-insulinoma pancreatic neuroendocrine tumours (Pan-NET). CONCLUSIONS: 68 Ga-DOTATATE PET/CT has supplemental role in selected cases of BSI with negative and/or discordant results with CECT and 68 Ga-NODAGA-Exendin-4 PET/CT. In malignant insulinoma, 68 Ga-DOTATATE-PET/CT has an additional theranostic potential. Interference due to uptake in non-insulinoma Pan-NET in MEN-1 syndrome may hinder insulinoma localization with 68 Ga-DOTATATE-PET/CT.

Renal allograft failure resulting from diffuse cortical necrosis.

ABSTRACT: Cortical necrosis of the renal allograft is an extremely rare but serious complication of renal transplantation and can lead to graft failure. Few cases have been reported in the literature to date. We present a rare case of a 28-year-old woman with chronic kidney disease for the past four years who was on biweekly hemodialysis and referred to our tertiary care center for a living-related renal transplant. The patient developed tacrolimus toxicity on the second day post-transplant. The renal biopsy performed on third day after transplant showed ischemic acute tubular injury. C4d and donor-specific antibodies were negative. On day 12 post-transplant, USG Doppler of the renal allograft showed thrombosis of the renal vein, and an open wedge biopsy was performed that showed extensive renal cortical necrosis. A month and half later, the patient developed pus collection anterior to the transplanted kidney and a fistula from the perinephric space up to the skin with persistent pus discharge. Two months later, a graft nephrectomy was performed, and diffuse cortical necrosis of renal allograft with a thick band of exudate on the capsule was diagnosed on histopathology. Ureteral necrosis and thrombosis of both renal artery and renal vein were also seen. In this case, the etiology of graft cortical necrosis is multifactorial and includes acute ischemia, urologic complications, and sepsis. To prevent graft failures, it is critical to differentiate thrombosis caused by surgical complications from hyperacute or acute humoral rejection.

Acute oxalate nephropathy: exploring the role of excess dietary oxalate intake.

Acute oxalate nephropathy is a rare but important cause of severe acute kidney injury. We report here two cases presenting as unexplained AKI which were confirmed histologically to be due to acute oxalate nephropathy. Dietary oxalate or its precursor vitamin C was the cause of oxalate exposure in both of these cases. While one patient recovered, another continued to need dialysis and succumbed to underlying metastatic cancer. This cause should be suspected in all patients presenting with unexplained AKI, and detailed history about dietary intake of oxalate or vitamin C should be inquired.

Spontaneous acute aortic dissection in pregnancy: report of a case devoid of known risk factors.

Acute aortic dissection in pregnancy is a rare condition with a potentially catastrophic outcome. The low rate of incidence together with variable presenting features in such circumstances makes diagnosis elusive. A high degree of clinical suspicion and diagnostic acumen is especially required in pregnant women without any history of connective tissue disorder, congenital aortic valvular malformation, or chronic hypertension. In this report, we present a case of aortic dissection with multiple aortic intimal tears in a medicolegal autopsy of a young pregnant woman who developed circulatory collapse and died during labor.

Mercury-associated neural epidermal growth factor-like 1 protein (NELL-1) positive membranous nephropathy after use of skin lightening creams.

INTRODUCTION: Membranous nephropathy, one of the common causes of glomerulonephritis worldwide, is reported in association with mercury exposure. Neural epidermal growth factor-like 1 protein is a recently described target antigen in membranous nephropathy. CASE SERIES: Three woman (ages 17, 39, and 19 years old) presented sequentially for our evaluation with complaints consistent with nephrotic syndrome. All three had nephrotic range proteinuria, hypoalbuminemia, hypercholesterolemia, hypothyroidism, and inactive urinary sediments. Kidney biopsies were performed in the first two patients, which demonstrated findings consistent with membranous nephropathy and positive staining for neural epidermal growth factor-like 1 protein. On discovery that they were all using the same skin-lightening cream, samples of the cream were tested and found to contain between 2,180 parts per million and 7,698 parts per million of mercury. Elevated urine and blood mercury concentrations were also found in the first two patients. All three patients improved following cessation of use and treatment with levothyroxine (all three patients) and corticosteroids and cyclophosphamide in patients one and two. DISCUSSION: We hypothesize the role of autoimmunity triggered by mercury exposure in the pathogenesis of neural epidermal growth factor-like 1 protein membranous nephropathy. CONCLUSION: Mercury exposure should be carefully assessed as a part of the evaluation of patients with neural epidermal growth factor-like 1 protein positive membranous nephropathy.

Warthin-Finkeldey giant cells-A useful clue for the cytodiagnosis of Kimura disease: A report of three cases.

Kimura disease (KD) is a rare, idiopathic chronic inflammatory disorder that usually presents as unilateral painless lymphadenopathy or soft tissue swelling of the head and neck region in young Asian males. The disease lacks pathognomonic clinical and cytomorphological features and can be mistaken for many reactive and malignant conditions. We report three cases of KD presenting as bilateral swelling of the head and neck region, and describe the cytomorphological features of each. In the correct clinical setting, a polymorphous lymphoid aspirate with eosinophils and Warthin-Finkeldey giant cells should raise a suspicion of KD and prompt further work up.

Diagnostic utility of urine cytology in detection of decoy cells in renal transplant patients: Report of five cases and review of literature.

BK polyoma virus (PV) is one of the commonest post-transplant viral infections, affecting approximately 15% of renal transplantation recipients, leading to graft failure in more than half of cases. The epithelial cells with polyoma viral inclusions in urine cytology specimens are termed "decoy cells" to caution pathologists not to misdiagnose these cells as cancer cells. The infected cells in urinary sediments are characterized by enlarged nucleus, basophilic intranuclear homogenous inclusions, and ground glass chromatin, which may cause diagnostic error in urine cytology. We report five cases of renal transplant patients, in which urine sample was positive for decoy cells. Routine urine cytology of post renal transplant patients with worsening renal function is a useful screening procedure to rule out PV reactivation, before ascertaining transplant rejection. Its cost-effectiveness in addition to the short processing time makes it an invaluable tool in the evaluation of transplant recipients with symptoms suggestive of graft rejection.

Multiple tuberous and tendinous xanthomas diagnosed on fine-needle aspiration cytology-report of a rare case.

Xanthomas are papulonodular skin lesions present in lipoprotein metabolism disorders, which result in cholesterol deposits in subcutaneous tissue, tendons, ligaments, periosteum, etc. A 11-year-old male presented with multiple soft tissue swellings, prominently over joints. Fine-needle aspiration (FNA) from multiple sites had similar appearance with foamy histocytes and giant cells. Oil Red O and polarized microscopy were also positive for fat. We describe an unusual case of tendinous and tuberous xanthoma diagnosed by cytology. Acquaintance with fine-needle aspiration cytology findings in xanthomas can help to avoid the need of surgical biopsy, as xanthomas can regress on medical therapy alone.

Radiological differentiation of phaeochromocytoma from other malignant adrenal masses: importance of wash-in characteristics on multiphase CECT.

Rationale and introduction: To evaluate the computerised tomography (CT) characteristics of phaeochromocytoma (PCC) that differentiate them from other non-benign adrenal masses such as adrenocortical carcinoma (ACC), primary adrenal lymphoma (PAL) and adrenal metastases (AM). Methods: This retrospective study was conducted at a tertiary health care institute from Western India. Patients presented between January 2013 and August 2016 with histological diagnosis of PCC or other non-benign adrenal mass having adequate reviewable imaging data comprising all four CECT phases were included. Results: The study cohort consisted of 72 adrenal masses from 66 patients (33 PCC, 22 ACC, 4 PAL, 13 AM). Unlike other masses, majority of PCC (25/33) showed peak enhancement in early arterial phase (EAP). PCC had significantly higher attenuation in EAP and early venous phase (EVP), and higher calculated percentage arterial enhancement (PAE) and percentage venous enhancement (PVE) than other adrenal masses (P < 0.001). For diagnosis of PCC with 100% specificity, PAE value ≥100% and EAP attenuation ≥100 HU had 78.8 and 63.6% sensitivity respectively. ACC were significantly larger in size as compared to PCC and metastasis. The adreniform shape was exclusively found in PAL (two out of four) and AM (4 out of 13). None of the enhancement, wash-in or washout characteristics were discriminatory among ACC, PAL and AM. Conclusion: Peak enhancement in EAP, PAE value ≥100% and EAP attenuation ≥100 HU differentiate PCC from other malignant adrenal masses with high specificity.

Granular Cell Tumour in Stomach: a Case Report.

Granular cell tumours are uncommon, usually benign soft tissue tumours. They are thought to be neural, arising from Schwann cells and can occur at various sites. Their occurrence in gastrointestinal tract is rare, the commonest site being oesophagus followed by large intestine. Gastric localization is unusual. A young female presented with abdominal discomfort since 3 months. Endoscopy showed a nodule in the body of stomach. Biopsy revealed features of granular cell tumour on microscopy, which was confirmed by immunohistochemical positivity for S100 and CD68. Wide excision of the tumour was performed. At the 6-month follow-up, patient was asymptomatic. The diagnosis of gastric granular cell tumour is based on endoscopic biopsy. Unless there is histological evidence of malignancy, wide local excision is an adequate surgical treatment.

Cytologic diagnosis of unusual, large multiple cutaneous myxomas in a case of Carney complex.

Cutaneous myxomas are rare benign neoplasms which are frequently associated with Carney complex (CNC). Although more than 500 cases of CNC are reported, there is no literature on cytologic diagnosis of Cutaneous myxomas. An 18-year-old male, with no significant family history, presented with multiple cutaneous swellings, largest measuring 15 cm on the right cheek. He also had spotty skin pigmentations, raised adrenocorticotropic hormone levels and recurrent cardiac myxomas. Fine-needle aspiration cytology from the right cheek and suprapubic swellings revealed paucicellular smears with abundant myxoid material in the background, admixed with fragments of spindle and stellate cells with bland nuclear morphology, and vascular proliferation in few fragments. There was no mitosis, necrosis, or any epithelial element. Hence, diagnosis of cutaneous myxomas in CNC was made which was confirmed on histopathology. This is the first report of cytologic diagnosis of multiple cutaneous myxomas in CNC and the largest cutaneous myxoma reported in literature.

Pure Villous Adenoma of the Vesicoureteric Junction Presenting as Pyonephrosis.

Villous adenomas of the urinary tract are uncommon neoplasms which share similar morphological features with gastrointestinal villous adenomas. Only two case series and around 20 scattered case reports of villous adenoma in the urinary tract have been published in English literature till date. They have been identified mainly in the urinary bladder, urethra, prostate and urachus, but the occurrence of villous adenomas at the vesicoureteric junction has not been described. We present a case of villous adenoma of the vesicoureteric junction which completely occluded the lumen and led to gross pyonephrosis.

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

BACKGROUND: Genetic aetiology of pheochromocytoma (PCC) and paraganglioma (PGL) is increasingly being studied; however, Asian Indian data on this aspect are scarce. OBJECTIVE: To study the prevalence of germline mutations and genotype-phenotype correlation in Asian Indian PCC/PGL patients. DESIGN: In this study, 150 index patients (M:F, 73:77) with PCC/PGL were evaluated. Phenotypic data were collected. Germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested by sequencing and NF1 was diagnosed according to phenotype. RESULT: Of the total population, 49 (32.7%) PCC/PGL patients had germline mutations (VHL: 23 (15.3%), RET: 13 (8.7%), SDHB: 9 (6%), SDHD: 2 (1.3%) and NF1: 2 (1.3%)). Amongst the 30 patients with familial and/or syndromic presentation, all had germline mutations (VHL: 14 (46.7%), RET: 13 (43.3%), SDHB: 1 (3.3%) and NF1: 2 (6.7%)). Out of 120 patients with apparently sporadic presentation, 19 (15.8%) had a germline mutation (VHL: 9 (7.5%), SDHB: 8 (6.7%) and SDHD: 2 (1.7%)). Mutation carriers were younger (29.9 ± 14.5 years vs 36.8 ± 14.9; P = 0.01) and had a higher prevalence of bilateral PCC (26.5% vs 2.9%, P < 0.001) and multifocal tumours (12.2% vs 0.96%, P = 0.06). Based on syndromic features, metastasis, location and number of tumours, around 96% mutations in our cohort could be detected by appropriately selected single gene testing. CONCLUSION: Asian Indians with PCC/PGL differ from Western cohorts in having preponderance of VHL mutations in multifocal tumours and apparently sporadic unilateral PCC. Syndromic presentation, metastasis, location and number of PCC/PGL can be effectively used for guiding genetic prioritisation.

Luetic aortopathy: Revisited.

We report a case of 38-year-old male, who presented with a large pulsatile swelling on the left side of the anterior chest wall of 4 months' duration with a gradual increase in size. He gave history of sexual promiscuity in the form of unprotected sexual intercourse prior to his marriage in his early 20s. He also gave a history of ulceration on coronal sulcus of glans penis 20 years back with painless right inguinal mass. His blood serology was strongly positive for syphilis and hepatitis B surface antigen (HBsAg); however, serology for retroviral infection was negative. Computed tomography-angiography confirmed the pulsatile swelling as aneurysm of the arch of and ascending aorta. In view of the history, positive serology, and imaging studies, we concluded the aortic aneurysm to be of syphilitic origin. We report this case due to its extreme rarity in the present antibiotic era.