Preeti Agarwal

Multiomics approach showing genome-wide copy number alterations and differential gene expression in different types of North-Indian pediatric brain tumors

PURPOSE Based on copy number alterations and transcriptional profiles, the posterior fossa tumors (medulloblastoma (MB), ependymoma and pilocytic astrocytoma) have been classified into various subgroups. The study design was aimed to identify and catalog genome-wide copy number alterations and differential gene expression in different types of North-Indian pediatric posterior fossa tumors and matched control tissue through Molecular Inversion Probe (MIP) Based and Human Transcriptome Array. EXPERIMENTAL DESIGN MIP based OncoScan Array and Human Transcriptome Array 2.0 were used to molecularly-categorize histopathologically and immunohistochemically proven tumor samples on the basis of copy number variations and altered gene expression patterns and/or alternative splicing events. RESULTS Based on molecular, histopathological/immunohistochemical and age-dependent factors MB was subgrouped into group-3 MB, Wnt and SHH; ependymoma into balanced, numerical and structural/anaplastic; and pilocytic astrocytoma was stratified age-dependently. Compared with the vermis tissue of MB, the vermis tissue of ependymoma showed higher levels of gain and losses compared with their counter tumor parts implicating metastasis within the confined region. Group-3 MB and anaplastic ependymoma represented highest differentially expressed genes both at gene and exon levels in the CN altered regions compared with other subgroups of MB and ependymoma respectively. CONCLUSION This multiomics approach based molecular characterization of posterior fossa tumors together with clinical and histopathological factors may help us in the area of personalized medicine.

Liquid-based versus conventional cytology in solid pediatric neoplasm: Comparison of their diagnostic and morphological spectra

Background: Conventional cytology (CC) is a well-established and effective methodology for the evaluation of pediatric tumors. Liquid-based cytology (LBC) is a better technique of smear preparation and is at present the standard protocol in cervical cytology samples. Aims: In the present study, we analyzed both smear preparatory techniques in fine-needle aspiration (FNA) samples from solid pediatric neoplasms in terms of adequacy and efficacy with objectives to study the changes in background and morphology of tumor cells in LBC smears. Materials and Methods: This was a prospective observational study conducted in a tertiary care teaching hospital, which included 52 pediatric patients with clinical diagnosis of malignancy and an assessable lump. Both conventional aspiration cytology and LBC smears were prepared as per standard protocols (SurePath BDTM) from FNA samples of cases and examined. Results and Conclusion: On comparing the diagnostic efficacy of cytology smears prepared by both techniques, LBC alone was diagnostic in 80.8% of the cases and conventional smear (CS) alone was diagnostic in 71.2% of the cases (agreement was 83.7%, P = 0.3). Cellular morphology was better preserved in LBC and interpretation was easier. There was a lower inadequacy rate in LBC and none of the samples was inadequate due to poor morphology in LBC smears (P = 0.0003). LBC showed an overall 40% improvement in inadequate cases by CS. LBC has been recommended as a complement to CC in nongynecological samples. Improved morphology and lower inadequacy rate make LBC a finer technique compared to CS in pediatric tumors as well.

Cytological spectrum of granulomatous mastitis: diagnostic and treatment challenges

Background: Granulomatous mastitis (GM) is an inflammatory disease of the breast which clinicoradiologically mimics both inflammatory and malignant lesions. This leads to diagnostic dilemmas and delay in treatment. The aim of the present study was to review the cases diagnosed as granulomatous mastitis on Fine Needle Aspiration Cytology (FNAC) with an objective to co-relate their clinico-radiological findings, histology review where available and follow up treatment received to establish etiology and study the treatment outcome. Methods: Cytologically diagnosed cases of granulomatous mastitis were retrieved and reviewed from August 2015 July 2017 records. Clinico-radiological co-relation, histology review where available and follow up treatment records were sought for. Results: Around 31.7% (530/1670) cases were reported as malignant, 60.3% (1009/1670) as benign proliferative and 7.9% (131/1670) as inflammatory lesions by breast FNA. 3.1% (51/1670) cases were reported as GM of all breast FNAC and 38% (51/131) of all inflammatory lesions. Follow up was available for 47 cases. Of which 26 (55.3%) cases were diagnosed as Tubercular Granulomatous mastitis (TGM) and 21(44.7%) were idiopathic granulomatous mastitis (IGM). Conclusions: Countries where tuberculosis is endemic, high degree of clinical suspicion and detailed work-up to rule out TGM is essential for all cases of granulomatous mastitis. Authors recommend a multidisciplinary workup with microbiological culture and molecular based tests on FNA material. This retrospective study illustrates that the cause of GM needs to be determined accurately for timely treatment, to avoid unnecessary delays and treatment dilemma in these patients.

Conventional vs. Liquid Based Cytology in Fine Needle Aspirates of Lung and Mediastinal Masses

Background: Lung cancer most common worldwide cancer, early diagnosis makes effective treatment in lung cancer. Liquid Based Cytology (LBC) for non-gynae specimens has gained popularity over conventional Cytology (CS) during last one decade because of increased sensitivity and specificity. Aim and objectives: To assess the diagnostic utility of LBC versus CS in fine needle aspirates of lung and mediastinal mass lesions. Compare cyto-morphological parameters in terms of adequacy, interpretation, concordance and diagnostic efficiency. Materials and Methods: Eighty -two cases suspected of lung or mediastinal mass lesions underwent imagine guided Transbronchial Needle aspiration (TBNA) or Trans Thoracic Needle aspiration (TTFNA). Fine needle passes were made for both conventional and LBC smears. All smears were examined and diagnosis was correlated in each case with histopathology as gold standard for final diagnosis. Results: Histopathology of 82 cases, 21 were non -neoplastic and 61 were malignant respectively.34 cases of adenocarcinoma, 15 cases of squamous cell carcinoma, 5 cases of adenosquamous cell carcinoma, 4 cases of small cell carcinoma, 1 cases of poorly differentiated 1 case of carcinoid and 1 cases of germ cell tumor. LBC were diagnosed 17 non -neoplastic and 54 were malignant respectively. 25 cases of adenocarcinoma, 11 cases of squamous cell carcinoma, 5 cases of adenosquamous cell carcinoma and 3 cases of small cell carcinoma, CS was diagnosed 4 non -neoplastic and 37 were malignant respectively. 24 cases of adenocarcinoma, 7 cases of squamous cell carcinoma, 4 cases of adenosquamous cell carcinoma and 2 cases of small cell carcinoma. Conclusion: Concordance of LBC with histopathology was found in higher proportion (72%) as compared to conventional smear (48.8%) (p=0.004), because percentage of adequacy for LBC (85.37%) was higher as compared to CS (56.1%) (P<0.001). The assessment of all the morphological parameters were predominantly equal in both methods except in few cases.

Perineal Schwannoma in a Child—an Uncommon Presentation

Schwannoma is rare peripheral nerve sheath tumor arising from Schwann cells. It is generally benign but may show malignant transformation. Perineal location of these tumors is very rare. We operated a 6-year-old boy with perineal mass, which turned out to be a schwannoma. We are presenting the description of the case and review of the relevant literature.

Incidental gravid adult filarial worm in the spermatic cord and the axillary tissue: Report of two cases

Gravid adult female worm of Wuchereria bancrofti was seen in the histology sections of axillary dissection of a radical mastectomy specimen in a patient with infiltrating ductal carcinoma and in sections from spermatic cord lesion in a 4-year-old boy. Careful observation and recognition of histologic features are important for the diagnosis in hematoxylin and eosin stained sections. In the present report, we highlight the salient morphologic features of the adult worm.

Intra-Operative Frozen Sections: Experience at A Tertiary Care Centre

The present study was conducted to assess error rates with diagnosis using intra-operative frozen sections, and to indicate ways to increase overall performance. Over a period of two years, 227 cases were biopsied intra-operatively. Errors were observed in 14 cases. Four of these were sampling errors, one by a pathologist and three by surgeons. In seven cases incorrect interpretations were made. Epithelial dysplasia was observed on definitive histology in two cases which was not reported intra-operatively. One case was of ectopic thyroid. In cases of oral cancer where sentinel lymph nodes were sampled, immunohistochemistry for cytokeratin was performed to facilitate identification of micrometastasis. Only single case displayed tumor deposits which was not evident morphologically. Resection margins were reported in seventy eight cases. Some 18% (14/50) benefited from revision of margins; overall sensitivity of intra-operative frozen sections for marginal status was 71.4%, with a specificity of 90.3%. Overall sensitivity was 75% and specificity was 97.5%. Careful observation, pathologist experience and knowledge of limitations help in improving the overall diagnostic outcome.The present study was conducted to assess error rates with diagnosis using intra-operative frozen sections, and to indicate ways to increase overall performance. Over a period of two years, 227 cases were biopsied intra-operatively. Errors were observed in 14 cases. Four of these were sampling errors, one by a pathologist and three by surgeons. In seven cases incorrect interpretations were made. Epithelial dysplasia was observed on definitive histology in two cases which was not reported intra-operatively. One case was of ectopic thyroid. In cases of oral cancer where sentinel lymph nodes were sampled, immunohistochemistry for cytokeratin was performed to facilitate identification of micrometastasis. Only single case displayed tumor deposits which was not evident morphologically. Resection margins were reported in seventy eight cases. Some 18% (14/50) benefited from revision of margins; overall sensitivity of intra-operative frozen sections for marginal status was 71.4%, with a specificity of 90.3%. Overall sensitivity was 75% and specificity was 97.5%. Careful observation, pathologist experience and knowledge of limitations help in improving the overall diagnostic outcome.

Cerebellar pilomyxoid astrocytoma

Abstract Pilomyxoid astrocytomas (P.M.A) are new class of Pilocytic Astrocytoma (P.A.) which typically have their origin in hypothalamus and chiasmatic region. There are very few case reports of PMAs arising from cerebellum. Their imaging features are similar to PA but they behave more aggressively than PA. The authors report a case of 10 year old male child who presented with right cerebellar tumour diagnosed as PMA on histopathology.