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1.
Article in English | MEDLINE | ID: mdl-38904443

ABSTRACT

BACKGROUND AND AIMS: Ependymomas exhibit heterogeneity across age, location, histology, molecular nature and survival suggestive of an epigenetic component in its pathogenesis. The CNS WHO classification (2021) classifies ependymomas based on DNA methylation profiles. Studies suggest that molecular sub-types remain stable throughout the course of disease. Immunohistochemical expression of L1CAM, has been identified as a surrogate marker for ZFTA/c11orf95-RELA fusion in supratentorial ependymomas. This study aims at realising its utility specially in resource-poor setups. MATERIALS AND METHODS: Forty-three histopathologically-proven cases of ependymoma under treatment over the period of three years were selected. Histopathological examination followed by routine IHC staining for GFAP, S-100, EMA and Ki-67 in all cases and L1CAM in the supratentorial ependymomas was done. We have followed-up almost all cases during our study period and was correlated with the IHC expression patterns and clinico-pathological parameters, including survival. RESULTS: In our study the commonest location for ependymomas was spine in adults and posterior fossa in pediatric age group. Majority cases belonged to CNS WHO Grade 2 both in adults and in the paediatric age group. Supratentorial location of ependymomas with positive immuno-reactivity for L1CAM and a higher Ki-67 labelling index were associated with poor survival. CONCLUSION: Our study revealed that L1CAM is an effective surrogate marker for supratentorial ependymomas possibly carrying the ZFTA Fusion gene product. The L1CAM immuno-reactivity also corresponded with the survival data. However, larger population-based studies are required to validate these results further.

2.
Indian J Hematol Blood Transfus ; 39(3): 495-498, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37304489

ABSTRACT

Hemoglobin SE (HbSE) disease are rare globally and there is paucity of literature regarding this condition. Cases reported in the Indian scenario so far have been limited to the tribal populations. This case series aims to highlight the rarity of this double heterozygous state and to raise awareness of its community prevalence beyond the tribal population. This is a case series over a 5-year observation period with six cases of double heterozygosity for HbS and HbE in our tertiary care centre. Four cases were in the 8-15 years' age group and 2 cases of 24-25 years' age group reported for initial evaluation due to easy fatigability and weakness: Two cases were siblings with history of consanguineous marriages in the family. Mild Pallor, variable icterus, spleen was just palpable in three of the cases and low MCV recorded in all cases. Sickling tests were positive and high performance liquid chromatography (HPLC) revealed both HbS > 50% and HbE fractions ≥ 25%. It's important to detect this rare condition, prevalent in consanguineous marriages as dreaded complications like sickling crisis may manifest during pregnancy and air travel. Detection and genetic counselling is important for prognosis, planning follow up and therapy for this uncommon double heterozygous state.

4.
Cytopathology ; 33(2): 261-265, 2022 03.
Article in English | MEDLINE | ID: mdl-34860435

ABSTRACT

Clear cell meningioma (CCM) is a rare histological variant of meningioma. It is commonly located at the cerebellopontine angle and the spine particularly around the cauda equina. Squash cytology finding of meningioma is well-established, however there is sparse literature available on squash cytology of CCM. Here we describe a case of CCM occurring in the lumbar spine in a young woman. Initially, on squash cytology a diagnosis of a low grade glioma favouring an ependymoma was considered. Eventually histopathological examination along with immunohistochemistry helped us reach the diagnosis of a CCM. In this article we discuss the cytomorphology of CCM along with its cytological differentials and the hurdles to an accurate diagnosis.


Subject(s)
Ependymoma , Meningeal Neoplasms , Meningioma , Cytodiagnosis , Ependymoma/diagnosis , Ependymoma/pathology , Female , Humans , Immunohistochemistry , Meningeal Neoplasms/diagnosis , Meningeal Neoplasms/pathology , Meningioma/diagnosis , Meningioma/pathology
5.
Genom Data ; 12: 151-154, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28540183

ABSTRACT

Here, we present the draft genome (377.3 Mbp) of Corchorus olitorious cv. JRO-524 (Navin), which is a leading dark jute variety developed from a cross between African (cv. Sudan Green) and indigenous (cv. JRO-632) types. We predicted from the draft genome a total of 57,087 protein-coding genes with annotated functions. We identified a large number of 1765 disease resistance-like and defense response genes in the jute genome. The annotated genes showed the highest sequence similarities with that of Theobroma cacao followed by Gossypium raimondii. Seven chromosome-scale genetically anchored pseudomolecules were constructed with a total size of 8.53 Mbp and used for synteny analyses with the cocoa and cotton genomes. Like other plant species, gypsy and copia retrotransposons were the most abundant classes of repeat elements in jute. The raw data of our study are available in SRA database of NCBI with accession number SRX1506532. The genome sequence has been deposited at DDBJ/EMBL/GenBank under the accession LLWS00000000, and the version described in this paper will be the first version (LLWS01000000).

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