Unusual sites of Rosai-Dorfman disease in children: 5 years experience from tertiary care paediatric haemato-oncology centre.

Rosai-Dorfman disease (RDD) is a rare histiocytic disorder, usually presenting with massive lymphadenopathy. The involvement of extra nodal sites, bone and nodal sites like mediastinum are rare. Clinical data of three cases of extra nodal RDD who were admitted in our paediatric haemato-oncology unit were analysed in the last 5 years. The extra nodal RDD (maxillary sinus, nasal pharyngeal focus, and external auditory meatus) were diagnosed based on histopathology and positron emission tomography scan. They were treated with steroids but were refractory hence requiring salvage chemotherapy. Currently all three of them are in complete remission. Extra nodal RDD is difficult to diagnose, histopathology and radiology play an important role. Here, we present three cases, of which two were steroid-refractory which were treated with salvage chemotherapy and are in complete remission.

Incidence and Demographic Profile of Ewings Sarcoma: Experience From a Tertiary Care Hospital.

Introduction Ewing sarcoma (ES) family of tumors (EFT) represents the second most common primary bone malignancy affecting children and adolescents after osteosarcoma. The tumor is characteristically associated with a chromosomal translocation resulting in a fusion transcript (EWSR1-FLI1). However, new molecular techniques have significantly transformed our understanding of this rare disease. The present study aims to analyze the incidence and demographic profile of Ewings sarcoma with an insight into the recent updates of the Ewing sarcoma (ES) family of tumors (EFT). Materials and methods All cases of Ewings sarcoma/peripheral neuroectodermal tumor (PNET) presented at a tertiary care center in South India from January 2010-December 2020 were included in this study. The demographic profile and patient details were obtained from the medical records section. Pathology reports of the included cases were retrieved, and associated factors were analyzed, including immunohistochemical studies and molecular workup. Results Out of the 58 cases included in the study, 30 cases (52%) were children and adolescents (< 20 years) and the rest 28 cases (48%) were adults. The mean age was 22.56. Female preponderance was noted, with 32 cases (56%) being females and 26 cases (44%) were males. The location of the tumor was variable. Twenty-five (25) cases (44%) were found in bones such as the clavicle, tibia, and mandible. Seven cases were seen on the anterior chest wall. Other sites included the oropharynx, lungs, endobronchial, infrascapular region, retroperitoneum, and thighs. One case presented as metastatic Ewings sarcoma with divergent differentiation in lungs with the primary site of the tumor being the right humerus. Immunohistochemical (IHC) studies were done on 55 of the 58 tumors. Forty-six (46) cases (80.9%) were CD99 positive and 41 cases(71.4%) were FLI-1 positive. Eleven (11) cases were both CD 99 and FLI-1 positive. NKX2.2, a recent IHC marker, was positive in six cases. Conclusion Ewings sarcoma has a peak incidence in the second decade of life with a propensity toward the axial skeletal location. Understanding the pathobiology and molecular updates of ES is significant to differentiate them from aggressive round cell sarcomas. They not only aid in predicting the prognosis of these aggressive tumors but also guide in therapy.

Traveling with ROSE in EBUS-TBNA - Experience from a Tertiary Care Hospital in South India.

AIMS AND OBJECTIVES: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has emerged as a precise modality for tissue sampling of mediastinal and hilar lesions adjacent to the proximal airway. This study aims to determine the diagnostic efficacy, sensitivity, and specificity of rapid-on site evaluation (ROSE) in EBUS-TBNA. MATERIALS AND METHODS: This is a retrospective study that included 100 patients who underwent EBUS-TBNA of paratracheal and mediastinal lymph nodes in a tertiary care hospital in South India between March 2018 and March 2020. After the procedure, the diagnostic yield from the nodes sampled was transferred to slides that were stained with rapid hematoxylin and eosin (H and E), and then onsite evaluation was done. The tissue derived was also processed for histopathologic examination in all cases. ROSE was performed to assess sample adequacy and to arrive at a preliminary diagnosis. In patients suspected of tuberculosis, the sample was collected for GeneXpert evaluation as well. RESULTS: Of the 100 cases studied, 51 were males and 49 were females. The age distribution was between 3 and 78 years. Forty-seven cases were diagnosed as granulomatous lymphadenitis, 13 as metastatic malignancies, 33 as reactive lymphadenitis, 3 as atypical cells, and 1 case was diagnosed as a cystic lesion. The diagnostic yield was not adequate for evaluation in three cases. Diagnostic yield was obtained in the first two passes where the lymph nodes were more than 2 cm in size. More diagnostic passes were required in lymph nodes less than 2 cm and those located between and adjacent to major vessels. The onsite diagnosis was correlated with the final histopathologic diagnosis. CONCLUSION: ROSE serves as a useful adjunct to reduce procedure time and enhance sample collection and triaging, and reduces the need for further invasive testing.