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Context: Melanoma accounts for 1-3% of all malignancies. It is usually diagnosed as metastasis in the draining lymph nodes, that is inguinal lymph node. Due to paucity of cytological studies on melanoma in India, the present study was undertaken.Aim: To study the cytomorphology of malignant melanoma and to correlate the cytological diagnosis with histopathology and clinical details.Settings and Design: Sixteen cytomorphological features were studied and analysed from the cases diagnosed as melanoma on cytology with histopathological correlation.Materials and Methods: Thirty patients diagnosed with malignant melanoma on fine-needle aspiration cytology (FNAC) were studied over a period of 10 years and compared by histopathology. Papanicolaou (Pap)- and May Grunwald Giemsa (MGG)-stained smears were studied and analysed for the cytomorphological spectrum of melanoma.Results: Among the 30 patients studied, males were 19 and females were 11 (M:F:1.7:1) with a mean age of 49.3 years. The commonest primary site was foot followed by maxilla and thigh. The most common site for metastasis was inguinal lymph node. All 30 cases had histopathological correlation. Pigmented melanophages (83%) was the predominant feature followed by presence of melanin pigment (77%) and pseudo-inclusions (73%). Condensed chromatin was observed in the majority of the patients (53%). Smooth and irregular nuclear contours were seen in combination in 37% of the cases. A combination of nuclear placement, that is eccentric and central was observed as a predominant feature (53%). Spindle cell pattern was the predominant shape. Among cytoplasmic features, melanin granules and vacuoles were equally distributed (50%). Mixed pattern, that is singly scattered plasmacytoid cell pattern and cell clusters was the predominant cell architecture.Conclusion: A spectrum of cytomorphological features in correlation with clinical details leads to greater precision in diagnosis and helps to avoid pitfalls in diagnosing melanoma. [ABSTRACT FROM AUTHOR]

Granulomatous amoebic encephalitis (GAE) caused by certain species belonging to the genus Acanthamoeba, Balamuthia, or Naegleria presents as a subacute or chronic illness. Amoebic encephalitis caused by Acanthamoeba is seen more often in immunosuppressed individuals. Thus, it may often be associated with human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS), organ transplantation, administration of steroids and systemic lupus erythematosus (SLE). The clinical progression is rapid, most often leading on to mortality of the patients. The diagnosis in most of these patients is established on postmortem examination. We describe a case of fatal granulomatous amoebic encephalitis in a patient recently diagnosed to be having SLE, who was receiving corticosteroids, cyclophosphamide, methotrexate, and hydroxychloroquine. The patient presented in an altered sensorium and expired after being hospitalized for 6 days. Postmortem examination of the brain showed extensive areas of necrosis and neutrophilic infiltrate with trophozoites and cysts of Acanthamoeba. [ABSTRACT FROM AUTHOR]

Background: Meningiomas are uncommon neoplasms in the pediatric age group and differ in various aspects from their adult counterparts. They account for 0.4-4.6% of all primary brain tumors. Aims: To retrospectively analyze the clinicopathological and immunohistochemical features of pediatric meningiomas. Materials and Methods: Meningiomas in patients under 18 years of age diagnosed between January 2001 to December 2011 were analyzed retrospectively. The hematoxylin and eosin stained sections and Ki 67 labelling index (LI) were reviewed for all the cases Results: The pediatric meningiomas accounted for 1.52% of total meningiomas (15/983). The mean age at presentation was 12 years with male to female ratio of 1.5:1. The presenting symptoms were headache, seizures, and motor deficits. The histology included 9 cases (60%) of atypical meningioma (WHO grade II) followed by 4 cases (26.67%) of WHO grade-I and 2 cases (13.33%) of anaplastic meningioma (WHO grade III). Five cases had a recurrence. Ki67 LI ranged from 0.5% to 1.5% in grade I, 0.5% to 15% in grade II and 13% to 24% in grade III meningiomas. Conclusion: Meningiomas are rare in children and show a male preponderance. There was a higher incidence of atypical and anaplastic meningiomas in pediatric population. [ABSTRACT FROM AUTHOR]

Context: India has a very large number of patients living with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome. Opportunistic infections in these patients are commonly encountered. However, malignancies in such patients also do occur.Aim: The aim was to study the spectrum of malignancies in HIV-positive patients at a tertiary health care center.Settings and Design: Retrospective study.Materials and Methods: The cases were retrieved from pathology record files at our Institute from January 2003 to December 2008. The follow-up was obtained from Medical oncology records. The morphology of each case was reviewed along with immunohistochemistry wherever done.Results: There were 61 such cases (51 males, 10 females). The age range was 7-78 years with a median of 35 years. The clinical presentation varied according to the malignancy. The largest group was non-Hodgkin lymphoma (18 nodal, 23 extra-nodal). The others included carcinoma breast (4), chronic myeloid leukemia (3), Burkitt Leukemia (2), squamous cell carcinoma anal region (2), multiple myeloma (2) and one each of miscellaneous malignancies (7).Conclusion: Malignancies in HIV positive individual occurred in younger individuals. Non-Hodgkin lymphomas, especially extra-nodal lymphomas, were the most common malignancy. There were no cases of proven Kaposi's sarcoma or invasive cervical carcinomas. There were two cases of multiple myeloma which are infrequently reported. [ABSTRACT FROM AUTHOR]

Background: Meningiomas represent about 30% of primary adult central nervous system tumors. Though slow growing, they recur, causing significant morbidity and mortality. Objective: The objective of the following study is to grade meningiomas according to World Health Organization (WHO) 2007 criteria and to correlate the grade with degree of expression of epidermal growth factor receptor (EGFR) and p53. Materials and Methods: Meningiomas diagnosed in the year 2010 in the Department of Pathology of our institute, were included in the study. Clinical and radiological findings were noted from medical records. The histopathology slides were reviewed and the tumors were graded according to WHO 2007 criteria. Tissue microarrays (TMA) were prepared and immunohistochemical analysis with epithelial membrane antigen, Vimentin, Ki67, EGFR and p53 was performed on the TMA slides. Results: A total of 79 meningiomas diagnosed during the study period included 30 male and 49 female patients with an age range of 10-75 years. There was a female preponderance with M:F ratio of 1:1.63. EGFR was found to be higher in grade I (82.93%) compared with grade II (35.71%) and grade III tumors (20%) with an overall positivity of 60.81%. Mean p53 indices were higher in grade III (50%) compared with grade II (39.29%) and grade I tumors (38.46%) with an overall positivity of 39.44%. Ki67 labeling index (LI) was significantly high in grade III (16.4%) compared with grade II (6.46%) and grade I tumors (3.13%). Conclusion: EGFR expression and Ki67 LI correlated with grade of meningioma P < 0.0001 and P < 0.0001 respectively which were statistically significant whereas p53 expression did not correlate (P - 0.90). [ABSTRACT FROM AUTHOR]

Background: Inflammatory myopathy (IM) as a manifestation of paraneoplastic syndrome has been well-documented. However, the prevalence of malignancies reported varies across the studies. There are very few studies reported from Asia, only one from India. Aim: The aim of this analysis was to study the prevalence of malignancy in biopsy-proven cases of IM in India and to study the difference between malignant and non-malignant groups. Materials and Methods: The study was a retrospective review of case records of patients with a biopsy-proven IM attending Tertiary Care University Hospital. Results: Of the total 86 patients with biopsy-proven IM, 22 patients were polymyositis, 63 patients had dermatomyositis (DM) and one was with an inclusion body myositis, not included for further analysis. Associated malignancy was diagnosed in 6 (7%) patients, and five of them were females. Diagnosis of associated malignancy was identified at the time of diagnosis of IM in four (66.7%) patients. All the six patients with an associated malignancy had DM. Only one patient died within 1 year of diagnosis. Creatinine kinase was much lower in patients with malignancy associated IM than in patients with no malignancy (P < 0.0001). Conclusion: The prevalence of malignancy was very low in our cohort as compared to the studies from other countries. Breast cancer was the most common malignancy associated with DM. The type of associated malignancy was quite variable. [ABSTRACT FROM AUTHOR]

We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on genetic analysis. [ABSTRACT FROM AUTHOR]

Background: Optic chiasmatic-hypothalamic gliomas are sellar-suprasellar lesions with variable radiological features. The advocated treatment is mainly primary radiotherapy without a histological diagnosis. However, in developing countries, like India infective granulomas (tuberculomas) in the suprasellar region radiologically can mimic optic chiasmatic-hypothalamic gliomas. Hence primary radiotherapy without histological confirmation may have deleterious consequences. Aim: The aim of the paper was to analyze the sensitivity and specificity of magnetic resonance imaging (MRI) in these lesions and to analyze the feasibility of primary radiotherapy. Patients and Methods: The magnetic resonance imaging (MRI) characteristics of 24 patients with either histologically proven optic chiasmatic "pilocytic astrocytoma" or radiologically suspected optic chiasmatichypothalamic gliomas were analyzed. They were grouped into three groups on the basis of radiological features and treated with a suspected diagnosis. The final diagnosis was correlated with preoperative diagnosis, and the feasibility of managing these lesions without a histopathological confirmation is discussed. Results: The three radiological groups were: Group-1 solid tumors with or without microcysts in 9 patients (histology: 8 pilocystic astrocytomas and 1 tuberculoma); Group-2 mixed tumors with solid and cystic components in 9 patients (histology: 7 pilocytic astrocytomas and 2 craniopharyngiomas); Group-3 ring enhancing lesions in 6 patients (all the 6 patients initially received antituberculous treatment, in 3 patients the lesion resolved and in the remaining 3 patients the lesion was subjected to biopsy as it did not resolve, the biopsy was suggestive of pilocytic astrocytoma). Thus, MRI was shown to have a sensitivity of 83.33% and a specificity of 50% for diagnosing optic chiasmatic-hypothalamic gliomas. Conclusions: Various lesions like craniopharyngiomas, tuberculomas can mimic optic chiasmatic-hypothalamic gliomas radiologically, and it is not possible to diagnose them with certainty on the basis of radiological findings alone. Biopsy and tissue diagnosis should always be sought before instituting radiotherapy or chemotherapy for optic chiasmatic-hypothalamic gliomas. [ABSTRACT FROM AUTHOR]

Aim: Utility of major histocompatibility complex (MHC) Class I antigen immunostaining was studied to differentiate idiopathic inflammatory myopathies from dystrophies. Materials and Methods: Forty muscle biopsies including seven dermatomyositis (DM), six polymyositis (PM), two sporadic inclusion body myositis (sIBM), 20 dystrophies (one Duchenne, three Becker's, four alpha, one gamma sarcoglycanopathy, nine limb girdle, one myotonic and one fascioscapulohumeral muscular dystrophy) and five controls were stained with antibody for MHC Class I antigen (Novocastra clone W6/32 HL 1:100 dilution). Results: Polymyositis and sIBM showed MHC class I antigen positivity along sarcolemma of single and small groups of muscle fibers. The regenerating fibers in the perifascicular area in DM showed intense cytoplasmic positivity of MHC class I antigen. Muscle fibers in all dystrophies except regenerating fibers and control normal muscle were negative for MHC. Capillaries and lymphocytes were positive controls. There were no false positives in the study. Conclusion: MHC Class I immunostaining can be used as a complementary diagnostic tool for the diagnosis of idiopathic inflammatory myopathies. [ABSTRACT FROM AUTHOR]

Introduction: Rhinocerebral mycosis is a rapidly progressive fatal opportunistic infection, predominantly affecting people in an immunocompromised state. Aggressive surgical therapy, with repeated debridement in combination with intravenous amphotericin B can lead to a high rate of cure.Aim: To determine the predictors of mortality in rhinocerebral mycosis.Materials and Methods: The demographic data, clinical features, radiological (MRI/CT) findings, treatment details of patients with a diagnosis of rhinocerebral mycosis confirmed on histopathology were analyzed retrospectively. The outcome was assessed as alive and dead. Univariate analysis with odds ratio (OR) was employed in data analysis. Chi-square test was used for P value.Results: There were 38 patients. The age range was 7-82 (mean 48.68) years; 30 (79%) were males. Craniofacial pain was the most common initial presenting symptom, noted in 29 (76.3%). Rhino-orbital involvement was noted in 24 (63.2%) and 12 (31.6%) had associated focal neurological deficits. Immunocompromised state was noted in 24 (63.2%). Eighteen (47.4%) patients died. The predictors for mortality: odds ratio (95% CI) were 2.45 (1.01-3.89) for elderly age, 5.67 (4.13-7.21) for intracranial extension, 2.6 (1.26-3.94) for immunocompromised state, 2.62 (1.25-3.99) for infection with zygomycosis and 2.33 (1.01-3.65) for anemia.Conclusion: Rhinocerebral mycosis is associated with high mortality in spite of aggressive therapy. Intracranial extension with focal neurological deficits is a major predictor of mortality in rhinocerebral mycosis. [ABSTRACT FROM AUTHOR]

Ubiquitously present fungi in the environment find a nidus in the human body and adopt its metabolic machinery to be in symbiosis or become pathogenic. Immunocompromised states like human immunodeficiency virus (HIV) / acquired immunodeficiency syndrome (AIDS), systemic neoplasia and organ transplantation have enhanced the frequency of fungal infections. High-risk behavior, IV drug abuse and air travel have led to the emergence of new fungal infections hitherto geographically localized. The pathology in the central nervous system (CNS) is dictated largely by the size of the fungus - the yeast forms, by virtue of their small size enter the microcirculation to cause meningitis and microabscesses, while hyphal forms invade the vasculature to manifest as large pale or hemorrhagic infarcts. The growth kinetics of fungi, the antigenic character of the capsule. the proteases secreted by the mycelial forms and the biochemical milieu in the host also determine clinical manifestations. A hospital-based analysis of the available information from India suggests that in the non-HIV patient population, hyphal forms like Aspergillosis and Zygomycosis are the most common pathogens, while yeast forms like Cryptococcus and Candida are the prime pathogens in cases of HIV/AIDS, the altered macrophage function acting in synergy with suppressed cell-mediated immunity. In Northeastern states, systemic infection by Penicillium marneffei is reported in association with HIV though CNS involvement is not recorded. Although fungal infections of the CNS are reported from various hospitals in India, studies are limited by non-availability of relevant microbiological studies and the reported prevalence data is biased by the surgical practices, availability of postmortem and microbiology and laboratory support. Detailed clinical and mycological investigations related to the interaction between the fungus and host environment is a fertile area of research to understand the basic pathogenetic mechanisms. [ABSTRACT FROM AUTHOR]

Background: Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders characterized by limb girdle weakness. There are no clear clinical features that distinguish various types of LGMD.Materials and Methods: We studied 26 patients with chronic progressive weakness in limb girdle distribution without early facial involvement with muscle biopsies suggestive of dystrophy/myopathy and positive for dystrophin antibodies. Immunohistochemistry studies of muscle biopsies were done on all patients to classify different types of sarcoglycanopathies.Results: The mean age of presentation was in the third decade. There were 14 male and 12 female patients. The common pattern of inheritance was autosomal recessive, seen in 53.8%. The more frequent type of LGMD was sarcoglycanopathy (SGP) (53.8%). Amongst the SGPs, alpha-SGP (26.9%) was the most common followed by beta-SGP (15.3%), gamma-SGP (3.8%) and delta-SGP (7.6%). Calf hypertrophy was noted in 53.5% of LGMD and 57.1% of SGPs, extensor digitorum brevis hypertrophy in 42% of LGMD and 35.7% of SGPs, winging of scapula in 39.2% of the LGMD group and 35.7% of the SGPs, valley sign in 28.5% of the LGMD group and 21.4% of the SGPs. Hip abductor sign was positive in 71.4% of LGMD and 64.2% of SGPs. Differential weakness of knee flexors was more common in SGP (57.1%). The mean creatine phosphokinase (CK) value was 2519IU/L and was elevated in 92.8% patients. Muscle biopsy showed a dystrophic pattern in 75% of LGMD and a myopathic pattern in the remaining. Symptomatic cardiac involvement was seen in one patient. ECG changes were seen in 44% of LGMD patients and 50% of the SGP. The common changes noted were T wave inversion in V1, V2 (16%), left ventricular hypertrophy LVH (12%) and right bundle branch block (RBBB) in 12% of the LGMD group.Conclusion: Sarcoglycanopathy is a more frequent form of LGMD whereas alpha type is the most common among the SGP. The four types of SGP do not differ in the pattern of muscle involvement. A relatively earlier onset, selective weakness of knee flexors and a very high CK may help differentiate SGP from other forms of LGMD. Immunohistochemistry is very useful in classifying the different types of LGMD prior to genetic analysis. [ABSTRACT FROM AUTHOR]

Infantile rhabdomyofibrosarcoma (IRMFS) is a rare soft tissue tumour affecting infants and young children. It occupies an intermediate position between infantile fibrosarcoma and spindle cell rhabdomyosarcoma in its clinical presentation, behaviour, morphology, immunohistochemical and ultrastructural features. This case is reported here to reiterate its occurrence as tumour with distinct morphological immunohistochemical and clinical behavioral patterns. [ABSTRACT FROM AUTHOR]

Computerized tomography (CT) scan and operative observations, and histolopathogical findings of 25 cases of intracranial hemangioblastoma were correlated. Solid hemangioblastomas showed a large number of thin-walled capillaries and abundant stromal cells with eosinophilic cytoplasm. Tumors with a cystic component and a mural nodule had a large number of stromal cells with vacuolated cytoplasm and microcysts. [ABSTRACT FROM AUTHOR]

Histological, immunohistochemical, and CT morphological features of medulloepithelioma, a rare embryonal tumor of primitive neuroepithelium, are described. [ABSTRACT FROM AUTHOR]

Introduction: Primary angitiits of central nervous system (PACNS) is an uncommon and serious form angitits that is limited to brain and spinal cord. PACNS presenting as tumor-like lesion(s) is extremely rare and occurs in -5%. Preoperative diagnosis of these lesions is extremely difficult. No studies have described the magnetic resonance imaging (MRI) characteristics of this rare presentation of PACNS. Materials and Methods: Retrospective analysis of M RI findings in 5 patients with histologically verified PACNS who presented with tumor-like lesions. Results: MRI characteristics included solitary (1 case) or multiple (4 cases) mixed intensity tumor-like lesions with or without hemorrhages. Contrast enhancement was variable brilliant in 2, patchy in 2, and faint in 1. Two lesions had adjacent meningeal enhancement. Two patients had enhancing mass lesions in the corpus callosum. DW imaging of the tumor-like lesions showed multiple small areas of hyperintense lesions (restricted diffusion) and hypointense lesions with corresponding areas of low and high ADC values on ADC imaging in 4 patients. DW imaging showed asymptomatic small areas of hyperintense lesion(s) (restricted diffusion) and hypointese lesions in the brain stem with corresponding areas of low and high ADC values in ADC imaging. Conclusions: In patients with focal deficits and MRI showing tumor-like lesion(s) and DWI and ADC of the lesion showing multiple small infarcts of different ages and also in other parts of brain, the diagnostic possibility of PACNS should be suspected and the lesion(s) should be biopsied. [ABSTRACT FROM AUTHOR]

Background: Focal cortical dementias are unusual neurodegenerative disorders characterised by focal involvement of the brain. The well characterised focal cortical dementias include behavioural variant Frontotemporal dementia (bv FTD), Progressive nonfluent aphasia (PNFA), Semantic dementia (SD), FTD-MND (Motor neuron disease), Corticobasal syndrome (CBS) and Posterior cortical atrophy (PCA). A striking feature of these disorders is relative preservation of memory till late in the disease. Aim: To determine frequency of focal cortical dementias in a memory clinic setting and to study the spectrum of clinical, neuropsychological features, imaging and pathology. Methods: Consecutive patients in the dementia registry of a memory clinic who fulfilled standard criteria for one of the focal cortical dementias were included. All subjects underwent comprehensive clinical and neuropsychological assessment and MR imaging. Pathological diagnosis was made where possible. Results: Of 174 dementias diagnosed during the study period, focal cortical dementia was diagnosed in 35 (21%); bv FTD in 10, PNFA in seven, SD in four, FTD-MND in six, CBS in three, and PCA in one. Four had an unusual combination of progressive aphasia and visuospatial impairment. Mean age at onset was 53 years (44 to 80 years), and 11/35 patients had a family history of dementia. Tau immunohistochemistry was demonstrated on pathology in two. Conclusions: Focal cortical syndromes constituted nearly one fifth of dementias in a memory clinic setting. In comparison with typical AD, focal cortical dementia patients had a younger age of onset, a stronger family history, relatively preserved memory and asymmetric focal cortical atrophy on brain imaging. [ABSTRACT FROM AUTHOR]

Background: Rimmed vacuoles are considered a pathological hallmark of distal myopathy, oculopharyngeal muscular dystrophy (OPMD), and inclusion body myositis (IBM). The pathogenetic mechanism of its formation is uncertain. Objective: To determine if rimmed vacuoles occur in other forms of myopathies including muscular dystrophies. Materials and Methods: All cases in which rimmed vacuoles were seen on muscle biopsies performed in our Institute between Jan 2006 and May 2007 were reviewed. The clinical features, demographic profile and pathological phenotype were analysed. Cases clinically considered to be muscular dystrophy were subjected to Immunohistochemistry for dystrophins, sarcoglycans and dysferlin for further characterization. Results: Of 542 muscle biopsies performed between Jan 2006 and May 2007, all cases of muscular dystrophies (n=75) excluding Duchenne muscular dystrophies were screened for presence of rimmed vacuoles. Nineteen cases (M:F 10:9, age range 7-63 yrs) were found to have rimmed vacuoles on histopathological examination of muscle biopsy. Five of these had clinical and pathological features characteristic of distal myopathy, one case each were diagnosed as oculopharyngeal muscular dystrophy and inclusion body myositis respectively. Nine cases with rimmed vacuoles were characterized as muscular dystrophy with 5 showing deficiency of alpha sarcoglycan and four with absence of dysferlin demonstrated on immunohistochemistry. Conclusion Rimmed vacuoles maybe seen in conditions other than distal myopathy, oculopharyngeal muscular dystrophy and inclusion body myositis suggesting that its occurrence maybe an epiphenomenon occurring as a degenerative change and may not be useful as a diagnostic hallmark. [ABSTRACT FROM AUTHOR]