IDH1, ATRX, p53, and Ki67 Expression in Glioblastoma patients: Their Clinical and Prognostic Significance-A Prospective Study.

Context Glioblastoma multiforme (GBM) is a malignant and aggressive primary brain tumor with a poor prognosis. This adverse prognosis is due to the tumor's tendency for advancement and recurrence caused by highly intrusive nature of the persisting GBM cells that actively escape from the main tumor mass into the surrounding normal brain tissue. On the basis of biomarker illustration, it can be classified into molecular subgroups. Aims (1) To determine the expression of IDH1, ATRX, p53, and Ki67 by immunohistochemistry, in a cohort of GBMs. (2) To determine whether altered protein expression of any of these growth-control genes in GBM will show association with patient survival. (3) To establish prognostically distinct molecular subgroups of GBM, irrespective of histopathological diagnosis. Results In this prospective observational study, 35 histologically diagnosed cases of glioblastoma were enrolled. The mean age at the time of presentation was 43.46 ± 17.25 years with a male:female ratio of 1.3:1. Of the 35 cases, microvascular proliferation was seen in 23 cases. Large foci of necrosis (>50%) were seen in 10 cases and 27 cases had mitotic count ≥ 5/high power field (HPF). Of 35 cases, 5 (14.3%) cases showed IDH1 immunopositivity and 30 (85.7%) cases were negative for IDH1. ATRX was retained in 24 (68.6%) cases, while it was lost in 11 (31.4%) cases. The p53 immunoexpression was seen in 31 (88.6%) cases, whereas p53 was negative in 4 (11.4%) cases. The overall median survival (OS) was 6 months. In two protein pairs, the three compositions were IDH1-/p53+ (74.3%), ATRX +/IDH1- (62.9%), and ATRX +/p53+ (57.1%). Combined three-protein immunohistochemical analysis revealed five different molecular variants. Also, 8.6% (3/35) of the samples had aberrant protein expression of all three proteins, i.e., ATRX-/p53 +/IDH1 + , while 11.4% (4/35) were wild-type protein expression group, i.e., ATRX +/p53-/IDH1-. Conclusion In patients with single protein expression, Kaplan-Meier survival analysis showed statistically better OS in IDH1 mutant glioblastomas. In cases with double protein pairs, IDH1/p53 revealed statistically significant association with better median OS. The survival analysis of patients with IDH1/ATRX/p53 protein combinations also denoted a better OS. Hence, GBM can be grouped into prognostically relevant subgroups using these protein expression signatures individually, as well as the combined protein expression signatures.

Progressive external ophthalmoplegia - A case report.

Progressive external ophthalmoplegia is a slowly progressive hereditary mitochondrial myopathy. Most mitochondrial disorders overlap clinically, enzymatically, and genetically. The most common enzyme defect is the combined deficit of complexes I and IV. Progressive external ophthalmoplegia particularly affects the extraocular muscles and is characterised by ophthalmoplegia, and bilateral ptosis. The ptosis and ophthalmoplegia is unresponsive to anticholinergics, with no effective treatment, but corrective surgery for ptosis as a palliative one. In this article, we report a rare case of a 16-year-old female with characterstic histological features consistent with progressive external ophthalmoplegia.

Epidemiological Profiling and Trends of Primary Intracranial Tumors: A Hospital-Based Brain Tumor Registry from a Tertiary Care Center.

Background and Objectives Hospital-based cancer registry is an essential tool for augmentation of the standard of care, administration motive, and resource for population-based cancer registries. Here, we presented hospital-based brain tumor registry (HBBTR) to outline a comprehensive epidemiological data, both clinical and histopathological, as well as trends of central nervous system tumors. In addition, we compare this data with national brain tumor data as well as an international brain tumor registry. Materials and Methods For the generation of this 7-year HBBTR data of all primary intracranial tumors operated, diagnosed, and registered at the Department of Pathology, Sawai ManSingh, between January 1, 2013 and December 31, 2019, was collected, analyzed, and compared with Tata Memorial Hospital, National Institute of Mental Health and Neurosciences, and Central Brain Tumor Registry of the United States. Results A total of 3,526 patients were of primary intracranial tumors. Out of which, male patients were 1,982 (56.2%), while 1,544 (43.8%) were female patients. Maximum proportion of tumors was in fifth decade. Overall, pediatric and adult patients constituted of 15.5 and 84.5% of the cases, respectively. Among all primary intracranial tumors, meningiomas (20%) were most common followed by glioblastoma multiformat (18%) and least common were germ cell tumors (0.1%) followed by pineal tumors (0.3%). In pediatric cohort astrocytic tumors (30.1%) are most common followed by embryonal tumors (20.8%), while in adults meningiomas (23.1%) were most common followed by glioblastomas (20.3%). Our registry showed similar trends of tumors with national data as compared with international data in median age of presentation. Conclusion This HBBTRs provide prevalence of primary intracranial tumors at a tertiary care center and could be a part of population-based registry.

Hereditary Sensory and Autonomic Neuropathy Presenting With Mutilating Trophic Ulcers.

Two siblings, a 19-year-old woman and an 18-year-old man, born to apparently normal parents of second-degree consanguineous marriage, presented to the Department of Dermatology, Sawai Man Singh Medical College Hospital, Jaipur, India, with recurrent skin ulcers of the hands and feet since early childhood. The ulcers were spontaneous, slow to heal, and caused deformities. On initial examination, they were found to have distal sensory loss, predominantly to pain and temperature. The patients were diagnosed with hereditary sensory and autonomic neuropathy of ulceromutilating type (Type 2) based on clinical evidences, nerve studies, and neuropathology. Although clinical features were distinct, due to slow progression of the disease and lack of clinical suspicion, diagnosis was delayed until adulthood when complications developed leading to deformities. Through this report, the authors intend to familiarize readers with this rare disease that can present with trophic ulcers.

Intraoperative Squash Smear Cytology in CNS Lesions: A Study of 150 Pediatric Cases.

BACKGROUND: Tumors of the central nervous system in the pediatric age group occur relatively frequently during the early years of life. Brain tumors are the most common solid malignancies of childhood and only second to acute childhood leukemia. Squash cytology is an indispensable diagnostic aid to central nervous system (CNS) lesions. The definitive diagnosis of brain lesions is confirmed by histological examination. AIM: To study the cytology of CNS lesions in pediatric population and correlate it with histopathology. MATERIALS AND METHODS: One hundred and fifty cases of CNS lesions in pediatric patients were studied over a period of 2 years. Intraoperative squash smears were prepared, stained with hematoxylin and eosin, and examined. Remaining sample was subjected to histopathological examination. RESULTS: Medulloblastoma (24.0%) was the most frequently encountered tumor followed by pilocyctic astrocytoma (21.33%) and ependymoma (13.33%). Diagnostic accuracy of squash smear technique was 94.67% when compared with histological diagnosis. CONCLUSION: Smear cytology is a fairly accurate tool for intraoperative CNS consultations.

Clinico-pathological Study of Space Occupying Lesions of Nasal Cavity, Paranasal Sinuses and Nasopharynx.

BACKGROUND: A variety of non-neoplastic and neoplastic lesions of nasal cavity, paranasal sinuses and nasopharynx are commonly encountered in clinical practice. The aim of this study was to study clinical and histopathological profile of space occupying lesions of nasal cavity, paranasal sinuses and nasopharynx in a tertiary care hospital of Rajasthan over the period of January 2013 to January 2014. MATERIALS AND METHODS: This was a prospective study of 147 cases (male 100, female 47; age group ranging from less than 1 y to 76 y) of space occupying lesions of nasal cavity, paranasal sinuses and nasopharynx over the period of 12 months (from January 2013 to January 2014). All tissues after fixation in 10% buffered formalin, processed and then stained with Hematoxylin & Eosin to study various histopathological patterns. RESULTS: These 147 cases were broadly categorized in two categories, one category as nasal and paranasal sinus masses and the other as nasopharyngeal masses with 91 and 56 cases, respectively. These lesions were common in second and third decades of life with male predominance. Among nasal and paranasal sinus masses, there were 67 (73.6%) non-neoplastic and 24 (26.4%) neoplastic lesions. Inflammatory polyps (89.5%) were the most common among the non-neoplastic masses; Inverted papilloma (45.46%) the most common among the benign neoplastic and squamous cell carcinoma (46.15%) was the commonest out of all malignant masses. Out of 56 nasopharyngeal masses, there were 53 (94.6%) non neoplastic and 3 (5.4%) neoplastic lesions. Majority of these i.e. 52 cases were of adenotonsillar hypertrophy. CONCLUSION: We concluded that complete clinical, radiological and histopathological correlation helps us to categorize these sinonasal lesions into various non-neoplastic and neoplastic types. But final histopathological examination provides a confirmatory diagnosis, although Immunohistochemistry is the final diagnostic method in few cases.

Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review.

Isolated spinal involvement of juvenile xanthogranuloma (JXG) is extremely rare. There are only seven prior published cases of spinal JXG, of which only one has been reported in an adult. We report here the eighth case of spinal JXG and the second in an adult. The patient, a 22-year-old female, presented with progressive upper backache. Radiological examination revealed a well-defined osteolytic hypointense mass in the T7 vertebral body, with a large soft tissue paraspinal extension causing cord compression. Complete resection of the mass was performed, with resolution of symptoms. Histology showed a histiocytic tumour with numerous Touton, foreign body and osteoclastic giant cells, immunopositive for CD68 and vimentin and negative for S100 and CD1a, corresponding to a diagnosis of JXG. Literature regarding spinal JXG is reviewed and discussed.

Phylogenetic relationships of graminicolous downy mildews based on cox2 sequence data.

Graminicolous downy mildews (GDM) are an understudied, yet economically important, group of plant pathogens, which are one of the major constraints to poaceous crops in the tropics and subtropics. Here we present a first molecular phylogeny based on cox2 sequences comprising all genera of the GDM currently accepted, with both lasting (Graminivora, Poakatesthia, and Viennotia) and evanescent (Peronosclerospora, Sclerophthora, and Sclerospora) sporangiophores. In addition, all other downy mildew genera currently accepted, as well as a representative sample of other oomycete taxa, have been included. It was shown that all genera of the GDM have had a long, independent evolutionary history, and that the delineation between Peronosclerospora and Sclerospora is correct. Sclerophthora was found to be a particularly divergent taxon nested within a paraphyletic Phytophthora, but without support. The results confirm that the placement of Peronosclerospora and Sclerospora in the Saprolegniomycetidae is incorrect. Sclerophthora is not closely related to Pachymetra of the family Verrucalvaceae, and also does not belong to the Saprolegniomycetidae, but shows close affinities to the Peronosporaceae. In addition, all GDM are interspersed throughout the Peronosporaceae s lat., suggesting that a separate family for the Sclerosporaceae might not be justified.