Utility of tru-cut biopsy in diagnosis of palpable pediatric soft tissue neoplasms.

Context: Soft tissue neoplasms are infrequent in children with sarcomas accounting for approximately 7% of all pediatric malignancies. Morphologic diagnosis is challenging due to overlapping features. Subtyping and categorization of these lesions are difficult on fine-needle aspiration cytology (FNAC) alone owing to tumor heterogeneity and limited material in some cases. Tru-cut biopsies obtain adequate tumor tissue for ancillary studies besides conventional histology. Aim: The study aims to explore the role of tru-cut biopsy to arrive at a definitive diagnosis. The study also highlights the correlation between FNAC and histopathology on tru-cut biopsy besides explaining the significance of a panel of immunohistochemistry (IHC) markers for histological categorization and subtyping. Materials and Methods: A total of 61 children from infancy to 18 years were included in the study. Closed biopsy procedures like FNAC and tru-cut biopsy were performed, and the tru-cut biopsy specimen was subjected to a panel of immunohistochemical markers. Results: Fisher's exact test for sensitivity and specificity towards detection of malignancy was 83% and 86%, respectively for FNAC. For tru-cut biopsy, sensitivity was 94% and specificity was 91%. The two-sided P value (<0.0001) was extremely significant. Cohen's Kappa coefficient value for tru-cut biopsy was 0.772 suggesting a substantial strength of agreement. Tru-cut with IHC had a Kappa value of 0.866 suggesting greater agreement with histopathology. Conclusion: Tru-cut biopsy is a simple, safe, and reliable adjunct to the FNAC. Instead, immunohistochemistry enhances the diagnostic accuracy.

Thoracopagus: Autoptic and radiologic study of 2 cases.

Conjoined twins are a very rare complication of monozygotic twinning, most common being thoracopagus. Here we report about two cases of thoracopagus male twins illustrating the autopsy details of one case and the prenatal magnetic resonance imaging (MRI) details of another case. While the first case was misdiagnosed as separate twins on antenatal USG, only to be later confirmed as thoracopagus twins after birth, the antenatal MRI done in the second case helped in accurate detection of thoracopagus twins. Bilateral peripheral cortical cysts with dysplasia was noted in one of the twins of the first case, which has not been reported earlier in conjoint thoracopagii. Early prenatal diagnosis of conjoined twins is essential for better counselling of parents regarding post natal surgical management or termination of pregnancy. Importance of prenatal MRI for accurate detection of these cases is thereby highlighted.

Focal nodular hyperplasia of the liver in children: A report of 2 cases.

Focal nodular hyperplasia (FNH) is a benign non-neoplastic lesion of the liver usually found in adults. It is uncommon in children, comprising 2-10% of all pediatric liver tumours. In children, it can occur at all ages, with increased frequency between 6-10 years. We present two cases of FNH in childhood- the first being that of a 5-month-old infant, and the second in a 6-year-old boy. The possibility of congenital FNH had been excluded in the first case. The second case posed diagnostic difficulty initially and was wrongly treated for hepatoblastoma by neoadjuvant chemotherapy, but later correctly diagnosed to be FNH. Both the children are doing well on follow-up. Paediatric FNH though rare, should be kept in mind while dealing with a hepatic mass. Radiological features can be variable and needle sampling may not be sufficient to reach to a diagnosis. Histological examination with glutamine synthetase immunostaining should be performed in doubtful cases to differentiate FNH from other paediatric liver masses, as management differs.

Post therapy Wilms tumour or ectopic immature renal tissue: A pathologist's diagnostic dilemma.

Post chemotherapy Wilms Tumour (PCWT) is a diagnostic conundrum both for the clinician and the pathologist, in view of its morphological similarity with ectopic immature renal tissue (EIRT). However, due to their varying prognoses and different lines of management, it is important to distinguish between the two. Here, we discuss clinical presentation and pathology of a case of PCWT, arising in a horse shoe deformity of the kidney in a 5 year old girl. The discussion focuses on the pathogenesis of Extra Renal Wilms Tumour (ERWT) as well as its distinguishing morphological features and chemotherapy induced changes in Wilms tumour.

Glomerulocystic disease, a rare cause of renal cysts in infants: A series of three cases.

Glomerulocystic kidney disease (GCKD) is an uncommon type of cystic renal disease affecting children. It has both sporadic and familial occurrence and is characterized by cortical microcysts associated with dilatation of Bowman's spaces. In some instances, GCKD is an early manifestation of autosomal dominant polycystic kidney disease. Here, we present three cases of GCKD, two in infants and one in a perinatal postmortem. The first one is a case of GCKD with unilateral involvement, diagnosed on surgical biopsy. GCKD is a morphological expression of several hereditary and nonhereditary disorders that differ vastly in their management and long-term outcome. Hence, accurate morphological diagnosis of this entity is important for prognostication and genetic counseling.

Diagnostic and prognostic utility of SF1, IGF2 and p57 immunoexpression in pediatric adrenal cortical tumors.

BACKGROUND: Adrenocortical tumors (ACT) are uncommon in the pediatric age group. Using the standard Weiss criteria in pediatric tumors leads to overdiagnosis. This has led to the development of newer systems such as Weineke criteria. Ki67 labeling index aids in differentiating adenomas from carcinomas. We aim to evaluate the diagnostic and prognostic role of Ki67 labeling index, along with immunoexpression of steroidogenic factor-1, insulin like growth factor 2 and p57, in pediatric ACTs diagnosed using Weineke criteria. METHODS: We have studied 25 cases of pediatric ACTs. Immunohistochemical staining for Ki67, SF-1, IGF2 and p57 was done in all cases and the result was correlated with the morphological diagnosis using the Weineke criteria. RESULTS: Ki67 labeling index showed complete concordance with the morphological diagnosis. SF-1 and IGF2 showed similar correlation with the diagnosis, with IGF-2 proving to be a more specific marker. Increased Ki67, SF-1 and IGF2 immunostaining also correlated with worse survival. p57 was more specific in determining benign status of a tumor. CONCLUSION: SF-1 and IGF2 are highly sensitive markers of malignancy in pediatric ACTs and can be used in combination with Ki67 expression for optimal diagnostic and prognostic assessment of pediatric ACTs. TYPE OF STUDY: Prognosis study. LEVEL OF EVIDENCE: Level II.

Orchitis: An unusual presentation of polyarteritis nodosa.

Polyarteritis nodosa (PAN), a systemic necrotizing vasculitis with multiorgan development, is generally restricted to the medium-sized muscular arteries. The varied initial clinical presentations of PAN can lead to a delayed diagnosis. We present the case of a middle-aged male patient who presented with an acute onset right-sided testicular pain as the initial clinical symptom with ischemic changes on ultrasonogram, thereby requiring orchiectomy. This was reported to be a case of tubercular epididymo-orchitis. On review, the biopsy revealed features of necrotizing arteritis as seen in PAN with fibrinoid necrosis and giant cells, thus highlighting the fact that vasculitis due to PAN may have a localized presentation at the time of diagnosis. PAN should be distinguished from other causes of epididymo-orchitis and other vasculitis lesions, the most common being tubercular etiology in the Asian population.

Pleuropulmonary Blastoma Developing in a Case of Misinterpreted Congenital Pulmonary Airway Malformation: a Case Report.

BACKGROUND: Pleuropulmonary blastoma (PPB) is a childhood malignancy known to be associated with congenital pulmonary airway malformation (CPAM). CASE REPORT: An 18 months boy presented with respiratory distress. Computed tomography (CT) scans revealed a large right-sided lung mass. Fine needle aspiration cytology (FNAC) showed sheets and clusters of small round to oval cells with scanty cytoplasm. The possibility of PPB was suggested. Trucut biopsy from the mass confirmed the diagnosis of PPB, of at least type II. The child had earlier been diagnosed as CPAM for which he had undergone lobectomy at six months, which on review was diagnosed as PPB I. CONCLUSION: We describe the cytological and histological findings of a case of PPBII/III evolving from a PPB I originally thought to be a CPAM type IV. This supports the theory that PPB I may progress to a more aggressive type II with time, and highlights the importance of the adequately treating the PPB I to prevent this transformation.

Cytodiagnosis of inflammatory myofibroblastic tumor: A report of three cases in infants.

Inflammatory myofibroblastic tumor is a tumor of intermediate grade with a low rate of metastasis. The tumor often mimics malignancy. There is sparse literature available describing the cytological findings of this rare condition. It often presents in infancy and childhood as an intra-abdominal mass. Here, we describe the cytological findings of three cases of inflammatory myofibroblastic tumor in infants aged 10 months, 4 months, and 15 months, respectively. While the first two cases are fine needle aspiration cytology (FNAC) smears, the third case is that of an intraoperative imprint cytology. All the three smears showed low cellularity with small clusters of bland spindle cells, along with sprinkling of inflammatory cells, suggestive of an inflammatory myofibroblastic tumor. The diagnosis was later confirmed on histopathology and positive immunostaining for ALK.

Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report.

Mermaid syndrome or Sirenomelia is a rare congenital deformity in which the legs are fused and bears resemblance to mermaid's tail. It carries a poor prognosis, due to associated urogenital and gastrointestinal abnormalities. An early antenatal diagnosis using Magnetic Resonance Imaging (MRI) can help in termination of pregnancy. Embryologically, it is considered as the extreme form of caudal regression syndrome due to the persistence of vitelline artery. Here, we report a case of Sirenomelia associated with bilateral renal agenesis along with the rare findings of discoid adrenal, lumbar meningocoele and abnormalities of the hand.

Utility of PAS and ß-catenin staining in histological categorisation and prediction of prognosis of hepatoblastomas.

AIMS: The aim of this study was to assess the usefulness of PAS, ß-catenin and Ki-67 in categorising hepatoblastomas (HBs) and their significance in predicting prognosis. In addition, we have also documented the various chemotherapy induced histologic changes in HBs. METHOD: In this retrospective observational study of 29 cases of hepatoblastomas, 27 cases were considered for statistical analysis, excluding two cases of diagnostic core biopsies. All clinicopathological parameters and follow up data were collected. All HB cases including the mixed epithelial and mesenchymal HBs were classified into two groups: fetal predominant and embryonal predominant type according to the predominant epithelial component. PAS, ß-catenin and Ki-67 staining were done and their correlation with histologic subtypes was assessed. Kaplan-Meier survival analysis was performed in relation to histology, PAS, ß-catenin and Ki-67 staining characteristics. RESULT: Diffuse nuclear staining of ß-catenin was significantly more common in embryonal predominant type (p = 0.036), whereas strong PAS positivity was significantly associated with fetal predominant type (p = 0.002). But no significant correlation was seen between histologic type and Ki-67 staining (p = 0.42). Survival analysis showed cases with diffuse PAS positivity, focal nuclear ß-catenin staining and low Ki-67 LI had better survival. CONCLUSION: PAS is a simple stain and can be utilised in histological categorisation of HB and also predicting its outcome. Nuclear ß-catenin staining which is significantly common in embryonal elements in HB predicts shorter survival.

FNAC Aided Diagnosis and Categorization of Hepatoblastoma:: A Report of Three Cases.

Hepatoblastoma is the most common primary malignant hepatic tumour of infancy and early childhood. Histologically hepatoblastomas are categorized into pure epithelial and mixed epithelial-mesenchymal types and epithelial type is further subcategorized into pure fetal type, fetal and embryonal type, pure embryonal, and small cell types. This categorization has been shown to have prognostic and therapeutic implication. Fine needle aspiration cytology (FNAC) is useful in pre-operative diagnosis and categorization in most cases of hepatoblastomas. Periodic acid-Schiff (PAS) stain can be helpful to differentiate fetal subtype from embryonal subtype of hepatoblastoma. Here we describe three cases of hepatoblastomas diagnosed and categorized on cytology with subsequent confirmation on histological examination. Diagn. Cytopathol. 2017;45:77-82. © 2016 Wiley Periodicals, Inc.

Weineke criteria, Ki-67 index and p53 status to study pediatric adrenocortical tumors: Is there a correlation?

PURPOSE: Adrenocortical tumors (ACTs) are rare in pediatric age group. Pediatric ACTs behave differently from their histologically similar adult counterparts and Weiss criteria often cannot accurately predict their clinical behavior. Wieneke et al. proposed a set of 9 macroscopic and microscopic criteria for diagnosis of malignancy in pediatric ACTs. The aim of the present study was to validate the Wieneke criteria in pediatric ACTs and to correlate Ki-67 labeling index and p53 expression with the Wieneke score. METHODS: Our study comprised 17 cases of pediatric ACTs more than 11years, from January 2005 to December 2015. Relevant clinical features were obtained from records. Comprehensive analysis of gross and microscopic features was performed, according to the criteria proposed by Wieneke et al. Each tumor was categorized as benign, intermediate for malignancy or malignant. Ki-67 and p53 immunostaining was done in all cases. The patients were followed-up over a period of 6months to 60months. RESULTS: Applying Wieneke criteria, there were 9 benign and 7 malignant cases, and 1 case was assigned as intermediate for malignancy. The most significant markers in favor of malignancy were capsular and venous invasion, followed by the presence of mitotic figures >15/20 HPF. p53 was over-expressed in 86% of the carcinomas. We found a significant correlation between Ki-67 index and Wieneke scoring system. All cases of adenoma achieved complete remission, while 3 patients with carcinoma died. CONCLUSION: Our study validates the utility of Wieneke criteria in differentiating adrenocortical carcinomas from adenomas in pediatric age group. Moreover, Ki-67 index and p53 status can be used as supplementary tools in distinguishing adrenocortical carcinomas from adenomas.