Diagnostic Utility of GATA3 and ISL1 in Differentiating Neuroblastoma From Other Pediatric Malignant Small Round Blue Cell Tumors.

Accurate diagnosis of neuroblastoma may be challenging, especially with limited or inadequate specimen and at the metastatic sites due to overlapping imaging, histopathologic, and immunohistochemical (immunohistochemistry [IHC]; infidelity among various lineage-associated transcription factors eg FLI1, transducin-like enhancer 1, etc) features. GATA3 and ISL1 have recently been described as markers of neuroblastic differentiation. This study aims at determining the diagnostic utility of GATA3 and ISL1 in differentiating neuroblastoma from other pediatric malignant small round blue cell tumors.We evaluated GATA3 and ISL1 expression in 74 pediatric small round blue cell tumors that included 23 NMYC-amplified neuroblastomas, 11 EWSR1-rearranged round cell sarcomas, 7 SYT::SSX1-rearranged synovial sarcomas, 5 embryonal rhabdomyosarcomas, 10 Wilms tumors (nephroblastomas), 7 lymphoblastic lymphoma, 7 medulloblastoma, and 4 desmoplastic small round cell tumor.All 23 neuroblastomas (moderate to strong staining in >50% of the tumor cells), 5 T-lymphoblastic lymphomas (moderate to strong staining in 40%-90% of the tumor cells), and 2 desmoplastic small round cell tumors (weak to moderate staining in 20%-30% of the tumor cells) expressed GATA3, while other tumors were negative. ISL1 immunoreactivity was observed in 22 (96%) neuroblastomas (strong staining in in >50% of the tumor cells, n = 17; moderate to strong staining in 26%-50% of the tumor cells, n = 5), 3 embryonal rhabdomyosarcoma (moderate to strong staining in 30%-85% of the tumor cells), 1 synovial sarcoma (weak staining in 20% of the tumor cells), and 7 medulloblastoma (strong staining in 60%-90% of the tumor cells). Other tumors were negative. Overall, GATA3 showed 86% specificity, 100% sensitivity, and 90% accuracy for neuroblastoma, with a positive predictive value (PPV) and negative predictive value (NPV) of 77% and 100%, respectively. ISLI showed 72% specificity, 96% sensitivity, and 81% accuracy for neuroblastoma, with a PPV and NPV of 67% and 97%, respectively. After the exclusion of T-lymphoblastic lymphoma and desmoplastic small round cell tumors, GATA3 had 100% specificity, sensitivity, accuracy, and PPV and NPV for neuroblastoma. Similarly, in pediatric small round blue cell tumors, ISL1 had 100% specificity, sensitivity, accuracy, PPV, and NPV for neuroblastoma, after embryonal rhabdomyosarcoma, synovial sarcoma, and medulloblastoma were excluded. CONCLUSIONS: GATA3 and ISL1 may be valuable in the diagnostic work-up of neuroblastoma and may reliably be used to support the neuroblastic lineage of pediatric small round blue cell tumors. Furthermore, dual positivity helps in challenging scenarios, when there is equivocal imaging, overlapping IHC features, limited specimen, and the lack of facility for a molecular work up.

Progressive Dilatation as a Successful Treatment for Y Duplication of Urethra: A case report.

Duplication of urethra is a rare congenital anomaly; a Y-shaped urethral duplication is the rarest variant and lacks a standardised treatment plan. We report a nine-year-old male patient with a Y-duplication of urethra diagnosed during neonatal age who presented to a tertiary care teaching hospital in India in 2018. The patient had undergone a vesicostomy on the seventh day of life for passing urine per anus and was lost to follow-up thereafter. At eight years of age, there was a failed attempt at disconnection of the duplicated urethral tract from the anus after colostomy. The patient was managed successfully by progressive dilatation of the orthotopic urethra, which required multiple stages, followed by separation of the urethra from the rectum. At three-years follow-up the patient was continent and asymptomatic.

Large Spinal Abscess in a Neonate.

Spontaneous spinal epidural abscess is rare entity in neonates. These are surgical emergency in which early diagnosis and prompt decompression is necessary to avoid permanent cord damage. The diagnosis is based on clinical findings of paraplegia supported by radiological findings on an MRI. We found a large extra spinal abscess in an infant that on further evaluation showed a communicating epidural component, yet the baby was neurologically intact. The abscess was drained in emergency with clearance of epidural component and appropriate antibiotics instituted for Streptococcus pyogenes as per sensitivity. The patient is doing well at 6 months follow up.

Biliary fascioliasis: Management in a child using endoscopic retrograde cholangio pancreatography.

A 9-year-old boy presented with right upper abdominal pain and fever. The radiologic investigations revealed multiple cholangitic abscesses with cholangitis and worms in common bile duct. Endoscopic retrograde cholangio pancreatographic (ERCP) sphincterotomy, basketing, ballooning and extraction of Fasciola hepatica worms from the common bile duct were done.

Traumatic diaphragmatic hernia: Management by video assisted thoracoscopic repair.

Report of the use of video assisted thoracic surgery for traumatic diaphragmatic hernia repair in two children.

An Unusual Presentation of Vallecular Cyst with near Fatal Respiratory Distress and Management Using Conventional Laparoscopic Instruments.

Vallecular cyst is a rare cause of upper airway obstruction in infants and children and presentation like acute stridor with near fatal respiratory distress is extremely rare. It is one of the rare causes of difficult intubation, during which cyst aspiration can improve the access. Vallecular cyst is commonly managed using microlaryngoscope and specialized instruments. We hereby report a method of endoscopic management of these cysts using conventional laparoscopic instruments.