MIS for enucleation of leiomyoma of the oesophagus-strategic approach and experience of 19 cases.

INTRODUCTION: Leiomyoma of the oesophagus, although rare, is the most common benign tumour to occur in the organ. Surgical approaches have evolved over time from an open thoracotomy or laparotomy to video-assisted thoracoscopic or laparoscopic and now robotic enucleation. We report a series of 19 cases of leiomyoma of the middle- and lower-third oesophagus treated by minimally invasive surgery. PATIENTS AND METHODS: A retrospective analysis of 19 cases operated at a single tertiary care centre in India was performed. After the diagnosis of a benign oesophageal neoplasm on computed tomography (CT) and endosonography, laparoscopic transhiatal enucleation of the tumour for lower third ( n = 16) and right-sided video-assisted thoracoscopic excision for middle-third tumours ( n = 3) were performed. Dor fundoplication was done after the excision of leiomyomas from the lower oesophagus. RESULTS: The most common symptom at presentation was retrosternal burning in lower oesophageal tumours, while tumours in the middle third of the oesophagus were asymptomatic and incidentally detected. The size of the tumour ranged from 3 cm to 8 cm in the largest dimension on contrast-enhanced CT scan. The mean operative time was 93 min ranging from 61 to 137 min. The average blood loss was 53 ml. No patient had an iatrogenic oesophageal mucosal injury. There were no conversions to open surgery or major complications including post-operative leak or death. Post-operative recovery was uneventful. CONCLUSION: The transhiatal approach to lower oesophageal leiomyomas is strategic to avoid complications of thoracoscopy, minimally invasive, cost-effective as compared to robotic surgery, suitable for adequate exposure and safe in the hands of an experienced laparoscopic surgeon.

Laparoscopic peritoneal dialysis catheter insertion: an oasis harnessed-experience and results at a tertiary care centre in India.

BACKGROUND: Peritoneal dialysis is a life sustaining renal replacement therapy for patients with end stage renal disease. In comparison to hemodialysis it offers better mobility and independence to patients. A number of techniques including open, laparoscopic and fluoroscopy guided, and their modifications, have been described for intraperitoneal catheter insertion. We describe our technique and results of laparoscopic peritoneal dialysis (PD) catheter insertion at a tertiary care centre in India. CASE SERIES: 48 patients were referred from the department of nephrology at our centre for laparoscopic PD catheter insertion. A two port technique was used in 37 patients and three port technique was implemented in the rest for simultaneous adhesiolysis and/or omentectomy. A straight tip catheter was tunneled through the rectus muscle in all patients. Two patients had incisional hernia from a previous abdominal surgery which was repaired concomitantly with onlay meshplasty. RESULTS: The operative time ranged between 20 and 35 min under general anaesthesia. Three patients were subjected to urgent start dialysis of which one patient developed peridrain leak as an early complication which was managed conservatively. All other patients were commenced on peritoneal dialysis two weeks after surgery. There was no other surgical site occurrence or episodes of peritonitis reported in a 6 month follow up period with the department of nephrology. CONCLUSION: In the era of minimal access surgery, the laparoscopic approach is feasible for widespread and safe use for PD catheter insertion. The benefits of PD can thus be made available to patients at civil hospitals even with a basic laparoscopy setup.

Clinical Spectrum of Adrenal Cushing's Syndrome and the Caution for Interpretation of Adrenocorticotrophic Hormone: A Single-Center Experience.

To describe the differences in presentation, biochemistry, and radiological evaluation of various etiologies of adrenal Cushing's syndrome (CS) from a single center. To emphasize caution for interpretation of plasma adrenocorticotropic hormone (ACTH), as a spuriously unsuppressed ACTH level by immunometric assay may lead to therapeutic misadventures in adrenal CS. DESIGN: Retrospective, single-center, observational study. METHODS: Fifty-eight adrenal CS patients [Adrenocortical carcinoma (ACC), n=30; Adenoma (ACA), n=15; Primary pigmented nodular adrenocortical disease (PPNAD), n=10; ACTH independent macronodular adrenal hyperplasia (AIMAH), n=3) evaluated at a tertiary care center in western India between January 2006 to March 2020 were included. Data on demography, clinical evaluation, biochemistry, imaging, management, histopathology, and outcome were recorded in a standard format and analyzed. RESULTS: Cortisol secreting ACC presented at 38(1-50) years with abdominal mass in 26/30 (86.7%) and 16/30 (53.3%) had metastases at presentation. ACA with autonomous cortisol excess presented at 25(4.9-40) years with discriminating features of CS in 14/15 (93.3%), sex steroid production in 2/15, unenhanced HU <10 in only one, and relative washout >40% in 8/11 (72.7%). One ACA and eight ACC patients had plasma ACTH (by Siemens Immulite assay) > 20 pg/ml, despite hypercortisolemic state. CONCLUSIONS: Cortisol-secreting ACC and ACA most often present with mass effects and florid CS, respectively. Baseline HU has low sensitivity to differentiate cortisol-secreting ACA from ACC. Plasma ACTH measured by Seimens Immulite is often unsuppressed, especially in ACC patients, which can be addressed by measuring ACTH by more accurate assays.

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.

Preoperative Amlodipine Is Efficacious in Preventing Intraoperative HDI in Pheochromocytoma: Pilot RCT.

CONTEXT: Preoperative blockade with α-blockers is recommended in patients with pheochromocytoma/paraganglioma (PPGL). The data on calcium channel blockade (CCB) in PPGL are scarce. OBJECTIVE: We aimed to compare the efficacy of CCB and α-blockers on intraoperative hemodynamic instability (HDI) in PPGL. METHODS: In the interim analysis of this monocentric, pilot, open-label, randomized controlled trial, patients with solitary, secretory, and nonmetastatic PPGL were randomized to oral prazosin gastrointestinal therapeutic system (GITS) (maximum 30 mg, n = 9) or amlodipine (maximum 20 mg, n = 11). The primary outcomes were the episodes and duration of hypertension (systolic blood pressure ≥ 160 mmHg) and hypotension (mean arterial pressure < 60 mmHg) and duration of HDI (hypertension and/or hypotension) as a percentage of total surgical time (from induction of anesthesia to skin closure). RESULTS: The median (IQR) episodes (2 [1-3] vs 0 [0-1]; P = 0.002) and duration of hypertension (19 [14-42] vs 0 [0-3] minutes; P = 0.001) and intraoperative HDI duration (22.85 ±â€…18.4% vs 2.44 ±â€…2.4%; CI, 8.68-32.14%; P 0.002) were significantly higher in the prazosin GITS arm than the amlodipine arm, whereas episodes and duration of hypotension did not differ between the 2 groups. There was no perioperative mortality. One patient had intraoperative ST depression on the electrocardiogram. The drug-related adverse effects were pedal edema (1 in amlodipine), dizziness (1 in prazosin GITS), and tachycardia (6 in prazosin GITS and 3 in amlodipine). CONCLUSION: Preoperative blockade with amlodipine is an efficacious alternative to prazosin GITS in preventing intraoperative HDI in PPGL. Larger studies that compare preoperative blockade by amlodipine with other α-blockers like phenoxybenzamine and/or doxazosin in PPGL patients are warranted.

Comparison of efficacy and safety of the enhanced-view totally extraperitoneal (eTEP) and transabdominal (TARM) minimal access techniques for retromuscular placement of prosthesis in the treatment of irreducible midline ventral hernia.

BACKGROUND: Retromuscular plane for mesh placement is preferred for ventral hernia repair. With the evolution of minimal access surgeries, newer techniques to deploy a mesh in the sublay plane have evolved. We compared two such minimally invasive approaches for repair of irreducible ventral midline hernia with respect to the efficacy and safety of the procedures. PATIENTS AND METHODS: This is a retrospective study of a prospectively maintained database of 73 patients operated with retromuscular placement of mesh for irreducible ventral midline hernia by enhanced-view totally extraperitoneal (eTEP) or transabdominal retromuscular (TARM) repair. We recorded and compared the intraoperative and post-operative complications, post-operative pain score, recovery, recurrence, subjective technical ease of procedure and patient satisfaction after 3 months and 12 months of the surgery. RESULTS AND CONCLUSION: Thirty-eight patients were operated by eTEP technique and the subsequent 35 were operated by TARM repair. There was no significant difference in the outcome of surgery and complications by the two techniques. However, there was a significant subjective technical ease in the TARM group due to ergonomic triangulated port placement and adhesiolysis and reduction of hernia contents under vision. The number of ports used and post-operative pain were, however, higher in the TARM group as compared to that of the eTEP group. Nearly 96% of the patients belonging to both groups were satisfied with their surgery after a year on telephonic follow-up. However, further studies and follow-up of patients would be required to establish the advantage of one technique over the other.

The utility of 68Ga-DOTATATE PET/CT in localizing primary/metastatic pheochromocytoma and paraganglioma in children and adolescents - a single-center experience.

OBJECTIVES: Pediatric pheochromocytoma and paraganglioma (PPGL) are rare tumors with limited data on the diagnostic performance of 68Ga-DOTA(0)-Tyr(3)-octreotate positron emission tomography-computed tomography (68Ga-DOTATATE PET/CT). We have described our experience of 68Ga-DOTATATE PET/CT in overall and von Hippel Lindau (VHL)-associated pediatric PPGL and compared its sensitivity with that of 131I-meta-iodobenzyl-guanidine (131I-MIBG), 18F-fluorodeoxyglucose PET/CT (18F-FDG PET/CT), and contrast-enhanced CT (CECT). METHODS: Retrospective evaluation of consecutive PPGL patients (age: ≤20 years), who had undergone at least one functional imaging [131I-MIBG, 18F-FDG PET/CT, and/or 68Ga-DOTATATE PET/CT], was done. Composite of anatomical and all the performed functional imaging scans, image comparator (IC), was considered as the gold standard for sensitivity analysis. RESULTS: In a cohort of 32 patients (16 males, age at diagnosis: 16.4 ± 2.68 years), lesion-wise sensitivity of 68Ga-DOTATATE PET/CT (95%) was higher than that of both 18F-FDG-PET/CT (80%, p=0.027) and 131I-MIBG (65%, p=0.0004) for overall lesions, than that of 18F-FDG-PET/CT (100 vs. 67%, p=0.017) for primary PPG, and than that of 131I-MIBG (93 vs. 42%, p=0.0001) for metastases. In the VHL (n=14), subgroup, 68Ga-DOTATATE PET/CT had higher lesion-wise sensitivity (100%) compared to 18F-FDG PET/CT (74%, p=0.045) and 131I-MIBG (64%, p=0.0145). CONCLUSIONS: In our pediatric PPGL cohort, overall lesion-wise sensitivity of 68Ga-DOTATATE PET/CT was higher than that of 18F-FDG PET/CT and 131I-MIBG scintigraphy. Hence, we recommend 68Ga-DOTATATE PET/CT as the preferred modality in pediatric PPGL. 68Ga-DOTATATE PET/CT may evolve as a preferred imaging modality for disease surveillance in VHL.

Exendin-4-based imaging in endogenous hyperinsulinemic hypoglycaemia cohort: A tertiary Endocrine centre experience.

CONTEXT: Insulinoma needs accurate preoperative localization for minimally invasive surgery. Exendin-4-based imaging has shown promising results. OBJECTIVE: To evaluate performance parameters of exendin-4-based imaging in insulinoma localization and compare with other imaging modalities. DESIGN: Retrospective cross-sectional study. PATIENTS: We report 14 patients with endogenous hyperinsulinemic hypoglycaemia (EHH) managed at our centre; in whom, the final diagnosis was insulinoma (n = 11), Munchausen syndrome (MS) (n = 2) and inconclusive (n = 1). Retrospective reporting of CECT, 68 Ga-DOTATATE PET/CT and 68 Ga-NODAGA-exendin-4-PET/CT was done. With per-lesion analysis, performance parameters were calculated for the histopathological diagnosis of insulinoma. MAIN OUTCOME MEASURES: True positive (TP), false positive (FP), false negative (FN), true negative (TN), sensitivity (Sn), specificity (Sp), positive predictive value (PPV), negative predictive value (NPV) for insulinoma localization. RESULTS: In our cohort, 12 histopathologically proven insulinoma lesions [(TP): 11 primary lesions, 1 metastasis] were detected in 11 patients, whereas two patients had MS (TN). Sn and PPV were 75% and 100%, 33.3% and 80% and 83.3% and 71.4% for CECT, 68 Ga-DOTATATE PET/CT and 68 Ga-NODAGA-exendin-4-PET/CT, respectively. With exendin-4-based imaging, FP uptake in normal pancreatic tissue and FN results in the pancreatic tail lesion was seen. In one patient, TN result suggested the correct diagnosis of MS. CONCLUSION: 68 Ga-NODAGA-exendin-4-PET/CT has higher sensitivity than 68 Ga-DOTATATE PET/CT and CECT for insulinoma localization. FP uptake in normal pancreas and FN result in tail lesions are limitations of currently utilized exendin-4-based imaging.

Pararectal angiomyxoma: a diagnostic dilemma.

Clinical diagnosis of pararectal masses remains a challenge to this day. Despite the availability of advanced imaging facilities, we often fail to reach a definitive diagnosis and have to resort to surgery. We describe a case of a 60-year-old female with a painless perianal swelling gradually increasing in size for 6 months with spontaneous reduction on assuming a supine position. Clinical examination of this patient was suggestive of a pelvic floor hernia. However, radiological investigations were suggestive of an ischiorectal abscess. In view of lack of radiological corroboration of clinical findings, patient underwent diagnostic laparoscopy which ruled out a hernia. A wide local excision of the mass was performed, which on histopathology with immunohistochemistry examination revealed an aggressive pararectal angiomyxoma.

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.

SYMPATHETIC PARAGANGLIOMA: A SINGLE-CENTER EXPERIENCE FROM WESTERN INDIA.

OBJECTIVE: Most of the Indian studies on pheochromocytoma/paraganglioma (PCC/PGL) have focused on PCC, and there is a paucity of information regarding sympathetic paraganglioma (sPGL). Here, we describe the clinical, biochemical, and imaging features of sPGL compared with PCC. METHODS: This retrospective study included 75 patients with sPGL and 150 patients with PCC. Diagnosis of PCC/PGL was based on surgical histopathology, and if histopathology was not available, on biochemistry and/or radiology. RESULTS: sPGL was more frequently detected incidentally ( P = .03), normetanephrine-secreting ( P<.01), and metastatic compared with PCC ( P≤.01). sPGL was most commonly located in the organ of Zuckerkandl (OOZ) (49%) and infradiaphragmatic area above the OOZ (27%). Patients with mediastinal sPGL were significantly older than those with sPGL in the OOZ ( P = .03). Primary tumors of metastatic sPGL were significantly larger than those without metastasis (7.8 ± 4 cm vs. 5.6 ± 3.2 cm; P = .004). Percentage arterial enhancement (PAE) >100% was seen in 98% of sPGLs. CONCLUSION: Incidental presentation, normetanephrine-secreting phenotype, and metastatic disease were more frequent in patients with sPGL than those with PCC. sPGL arose most commonly in the OOZ. Tumor size is an independent predictor of malignancy among sPGL patients. PAE >100% is almost a universal finding in sPGL, and its absence is a sensitive parameter to differentiate sPGL from other abdominal masses. ABBREVIATIONS: AP = arterial phase; CECT = contrast-enhanced computed tomography; CT = computed tomography; DP = delayed phase; EVP = early venous phase; FDG = fluorodeoxyglucose; fPFMN = fractionated plasma free metanephrine; HU = Hounsfield units; MIBG = metaiodobenzylguanidine; MRI = magnetic resonance imaging; OOZ = organ of Zuckerkandl; PAE = percentage arterial enhancement; PCC = pheochromocytoma; PET = positron emission tomography; PFNMN = plasma free normetanephrine; PGL = paraganglioma; PRRT = peptide receptor radionuclide therapy; PVE = percentage venous enhancement; sPGL = sympathetic paraganglioma; UP = unenhanced phase; VMA = vanillyl mandelic acid.

Laparoscopic cholecystectomy with choledochoduodenostomy in a patient with situs inversus totalis.

A 50-year-old female presented to us with features of obstructive jaundice. Investigations revealed cholelithiasis with single large impacted calculus in the common bile duct (CBD) and significant dilatation of extrahepatic biliary tree. Incidentally, the patient was also detected to have situs inversus totalis (SIT). Attempt at extraction of the calculus in the CBD by endoscopic retrograde cholangiography failed, and a 7F stent was placed. The patient was subjected to laparoscopic cholecystectomy, CBD exploration with the extraction of the offending calculus and laparoscopic choledochoduodenostomy (LCDD). The patient had an uneventful recovery and is since discharged. PubMed search did not reveal LCDD in SIT as a procedure reported in literature to the best of our knowledge.

Laparoscopic surgery for solitary insulinoma in the absence of IOUS.

BACKGROUND: Insulinomas are the most common pancreatic neuroendocrine neoplasms. In spite of adequate pre-operative localisation, conventional surgical methods rely on intraoperative palpation. Intraoperative ultrasonography (IOUS) is said to aid in accurate localisation, decreases morbidity. Laparoscopic removal of pancreatic endocrine neoplasms is beneficial due to magnification and minimal invasion; however, in the absence of IOUS, error of judgement may lead to conversion to open surgery, thereby relying on 'palpation method' to localise the tumour. We combined laparoscopic surgical removal of insulinomas using an innovative method of 'laparoscopic finger palpation' with intraoperative blood glucose monitoring and frozen section for surgical cure. MATERIALS AND METHODS: Patients were evaluated and investigated by the department of endocrinology and referred for surgical management of insulinoma. Pre-operative localisation of insulinoma was done by either contrast-enhanced computerised tomography angiogram - arterial and venous phase, or endoscopic ultrasound (EUS) or DOTATATE scan. Intraoperative localisation was done by laparoscopic dissection and 'laparoscopic finger palpation'. After enucleation, the specimen was sent for frozen section, and in the interim period, serial monitoring of blood glucose was done by the anaesthetist. Maintenance of glucose levels for more than 45 min after enucleation and confirmation of neuroendocrine tumour on frozen section was the end point of surgical procedure. RESULTS: A total of 19 patients were subjected to laparoscopic removal of solitary insulinomas. Enucleation was performed in 16 patients successfully. In three patients, laparoscopic distal pancreatectomy was performed. Three patients had pancreatic duct leak, of which two patients responded to conservative approach and the third patient required drainage by USG-guided pigtail catheter. All patients are cured of their disease and no patient has had recurrence so far. CONCLUSION: Multidisciplinary approach involving laparoscopic palpation, frozen sections and intraoperative blood sugar monitoring helps laparoscopic management of solitary insulinomas without IOUS.

Percentage arterial enhancement: An objective index for accurate identification of parathyroid adenoma/hyperplasia in primary hyperparathyroidism.

BACKGROUND: Radiation exposure to neck by four-dimensional computerized tomography (4DCT) is relatively high and limits its use as a first-line investigation in evaluation of primary hyperparathyroidism (PHPT). Radiation exposure can be reduced by restricting the number of CT phases. Our aim was to study the performance of 4DCT in cohort of surgery-naïve PHPT patients, and to evaluate percentage enhancement as an objective radiological index to discriminate parathyroid lesions (adenoma/hyperplasia) from thyroid tissue and lymph nodes. MATERIALS AND METHOD: Retrospective study of 49 PHPT patients {(44 single-gland diseases (SGD) and five multiple-gland disease (MGD)} who underwent 4DCT (unenhanced, early arterial, early venous and delayed venous phase) pre-operatively. Two radiologists who were blinded to surgical location of parathyroid lesions examined the scans. Attenuation values were recorded for parathyroid lesions (n=50), thyroid gland (n=50) and lymph nodes (n=12) in different phases. Percentage enhancement for different phases was calculated as "(HU in a specific enhanced phase-HU in unenhanced phase)/HU in unenhanced phase" ×100. RESULTS: Inter-rater reliability between the two radiologists was 0.83 (Cohen's kappa). In SGD, sensitivity and PPV were 93.18% and 98.8% for lateralization, and 89.77% and 95.18% for quadrant localization, respectively. In MGD, 4DCT showed 50% sensitivity and 100% PPV. Percentage arterial enhancement showed highest area under curve (AUC=0.992) for differentiation of parathyroid lesions from thyroid tissue and lymph nodes. A cut-off value of 128.9% showed 95.8% sensitivity and 100% specificity for the identification of parathyroid lesions. CONCLUSIONS: We propose that percentage arterial enhancement can be used as an objective radiological index for accurate identification of parathyroid adenoma/hyperplasia.

Predictors of malignancy in patients with pheochromocytomas/paragangliomas: Asian Indian experience.

BACKGROUND AND AIMS: Malignant transformation of pheochromocytomas/paragangliomas (PCC/PGL) is a rare occurrence, and predictive factors for the same are not well understood. This study aims to identify the predictors of malignancy in patients with PCC/PGL. MATERIALS AND METHODS: We performed a retrospective analysis of 142 patients with either PCC or PGL registered at our institute between 2000 and 2015. Records were evaluated for clinical parameters like age, gender, familial/syndromic presentation, symptomatic presentation, biochemistry, size, number and location of tumours and presence of metastases and mode of its diagnosis. RESULTS: Twenty patients were found to have metastases; 13 had metastases at diagnosis and seven during follow-up. Metastases were detected by radiology (CT-neck to pelvis) in 11/20 patients (5/13 synchronous and 6/7 metachronous), 131I-metaiodobenzylguanidine in five (2/12 synchronous and 3/6 metachronous) patients and 18F-flurodeoxyglucose PET/CT in 15 (12/12 synchronous and 3/3 metachronous) patients. Malignant tumours were significantly larger than benign tumours (8.3 ± 4.1 cm, range: 3-22 cm vs 5.7 ± 2.3 cm, range: 2-14 cm, P = 0.0001) and less frequently metanephrine secreting. On linear regression analysis, tumour size and lack of metanephrine secretion were the independent predictors of malignancy. CONCLUSIONS: Patients with primary tumour size >5.7 cm and lack of metanephrine secretory status should be evaluated for possible malignancy not only at diagnosis but also in the postoperative period. As compared to CT and 131I-MIBG scan, 18F-flurodeoxyglucose PET/CT analyses are better (sensitivity: 100%) for the diagnosis of metastases in our study.

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.

Multiple endocrine neoplasia type 1 syndrome: single centre experience from western India.

Multiple endocrine neoplasia type 1 syndrome (MEN1) is a rare autosomal dominant familial cancer syndrome affecting multiple endocrine glands. Published literature on MEN1 from Indian subcontinent is scarce. We report here a case series of MEN1 patients (n = 18) from 14 unrelated families. Retrospective study describing the clinical profile of MEN1 patients from endocrine unit of a tertiary care hospital from western India. Additionally clinical profile of primary hyperparathyroidism (PHPT) in MEN1 patients was compared with that of apparently sporadic PHPT cohort from our centre. Eighteen patients (10 males, 8 females) diagnosed as MEN1 were included. Mean age at diagnosis was 31.5 ± 10.6 years (range 17-54). Incidence of primary hyperparathyroidism (PHPT), pituitary adenoma (PA), and gastro-entero-pancreatic neuroendocrine tumor (GEP-NET) was 94.4, 72.2, and 72.2 %, respectively. GEP-NET was the commonest presenting lesion (33.3 %), followed by PA (27.7 %), PHPT (16.6 %), thymic carcinoid (5.5 %), while 16.6 % cases were identified on family screening. PHPT manifestations (clinical and biochemical) in MEN1 were less severe as compared to those of sporadic PHPT. Contrast enhanced computed tomography (CECT) and (68)Ga-DOTANOC PET/CT were equally sensitive (64.7 vs. 63.5 %) in identifying multiglandular parathyroid disease. Non functioning tumors (NFT) were the most common GEP-NET, followed by insulinoma (5/13, two were metastatic). (68)Ga-DOTANOC PET/CT had higher sensitivity in detecting GEP-NET lesions than CECT (100 vs. 62.5 %). The most common pituitary lesion was prolactinoma, and all were cabergoline responsive. Genetic analysis was available in 13 patients and 11 patients showed mutation in MEN1 gene. The clinical profile of MEN1 in Asian Indian patients is largely comparable to that reported in other cohorts. Peculiar findings of our cohort are predominance of GEP-NET as a presenting manifestation and relatively higher prevalence of insulinoma with higher occurrence of metastatic insulinoma. Clinical and biochemical profile of MEN1 associated PHPT is less severe than that of our sporadic PHPT.

Laparoscopic excision of infra-renal PEComa.

Perivascular epitheloid cell tumors (PEComas) are rare tumors of malignant potential. There is no normal cell variant to these cells. The family is large and includes angiomyolipoma, clear cell "sugar" tumor amongst others. Imaging modalities are not very diagnostic. The diagnosis hence is often postoperative. A 55-year old female presented to us with ultrasonographic diagnosis of solid mass in the right infrarenal region. Contrast-enhanced computerized sonography (CECT) suggested paraganglioma or a soft tissue retroperitoneal tumor. Laparoscopic excision was successful. The rarity of this pathology and laparoscopic modality of excision prompted us to publish this report.