Use of the term atypical cells in the reporting of ascitic fluid cytology: A caveat.

BACKGROUND: Abdominal paracentesis is a routine diagnostic procedure for assessment of patients with recent onset or worsening of ascites. OBJECTIVES: The objective of the study is to (1) review clinically confirmed cases of malignancy with negative, atypical, and suspicious cytology reports and provide reasoning for discrepancies and (2) recalculate sensitivity, specificity, and predictive values after review. MATERIALS AND METHODS: Papanicolaou smears of ascitic fluid paracentesis samples received over one calendar year were reviewed retrospectively by an expert in cytopathology blinded to the final clinical and/or histopathological diagnoses. Cases with discrepancies after review were noted. Sensitivity, specificity, and predictive values were calculated before and after review of slides. Data were analyzed using SPSS version 16. RESULTS: Malignant etiology was identified in 49/115 cases (42.6%) with female genital tract being the most common site of malignancy (22, 44.8%). The remaining 66 (57.4%) had a benign etiology with hepatic cirrhosis in 42 cases (63.6%). A review revealed discrepancies in five cases, three of which were earlier called negative for malignant cells (one case each of ovarian adenocarcinoma, cecal adenocarcinoma, and cholangiocarcinoma). Two cases of ovarian adenocarcinoma that were reported as atypical/reactive mesothelial hyperplasia showed malignant cells upon review. Sensitivity and specificity after review were 69.4% and 100%, respectively, with 100% positive predictive value. CONCLUSION: Being a minimally invasive procedure, abdominal paracentesis continues to be an important diagnostic tool in guiding patient management. A proper morphological assessment with adequate clinical information and correlation with other investigations can be used to arrive at a definitive diagnosis in most cases. The term "atypical" can be misleading and is often used for want of clinical information and is best avoided.

Midline carcinoma expressing NUT in malignant effusion cytology.

Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare and aggressive subset of poorly differentiated squamous cell carcinoma that is defined by t(15,19) and typically presents in the midline structures of the head, neck, and mediastinum. We report two cases of NMC that presented uniquely with malignant pleural and pericardial effusions including one with cardiac tamponade at presentation. The first case is of a 25-year-old male patient who presented with progressive dyspnea associated with palpitations and dizziness on standing, found to have large bilateral pleural effusions. The second case is of a previously healthy 29-year-old male patient who presented with progressive dyspnea, cough with expectoration, and a large right lower neck mass of 3 months onset, and a large left pleural effusion and left lung infiltrate on imaging studies. Both cases showed malignant cells on cytology suggestive of poorly differentiated carcinoma. Subsequent histopathological and immunochemistry studies were consistent with the diagnosis of NMC. Both patients had a rapid decline in status and suffered comorbidities secondary to their carcinoma, inevitably leading to their death. It is important to consider NUT midline carcinomas can present in a variety of clinical scenarios, and it is important to consider in the differential diagnoses when evaluating malignant effusion cytology. Utilization of ancillary testing with a broad immunostain profile including NUT studies, as well as fluorescent in-situ hydridization (FISH) studies are helpful and necessary in making the appropriate diagnosis.

Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.

INTRODUCTION: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported. AIM: To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA. MATERIALS AND METHODS: Hospital based study of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years. Diagnosis was based on clinical and metabolic presentation and confirmed by spectrometry analyses of urine and blood. Management, immediate outcome, compliance to treatment and recurrence of crises were documented. Neurodevelopmental outcome was assessed in follow up. Mean with Standard Error (Mean ± SE) and frequencies with percentages were calculated. RESULTS: Of 72 cases suspected to have IEM, 38 (52.8%) were confirmed of (IEM), and out of which 15 (39.5%) had OA. Methyl malonic acidemia, multiple carboxylase deficiency and Propionic Acidemia (PA) constituted the largest proportion. Neurodevelopmental issues (73.3%) and metabolic crisis (53.3%) were common presenting features. Mean ± SE of ammonia was 639.0±424.1 µg/dl and lactate was 33.6±4.9 mg/dl. Mean pH, bicarbonate, and anion gap was 7.27±0.07, 14.1±2.3 and 17.9±2.3 respectively. Management was protocol based. Death was reported in two cases of PA; other morbidities were seen in five. Recurrent crisis (46.7%) complicated the follow up in survivors. Spasticity, extrapyramidal movement disorder, intellectual subnormality, autism spectrum, attention deficit hyperactivity disorder and sensory neural deafness were seen amongst survivors, in spite of compliance to therapy. CONCLUSION: OA is part of differential diagnosis in sick children and treatment needs to be prompt and specific. Prognosis is guarded even with long term cofactor supplementation in the symptomatic.