Sporadic Late-Onset Nemaline Rod Myopathy: An Interesting Case.

Sporadic late-onset nemaline rod myopathy is a rare, acquired, sub-acute, adult-onset myopathy characterized by proximal muscle weakness and nemaline rods in the myofibers. In contrast to its congenital form, the prevalence in adult population is comparatively rare. Herein, we report a case of 60-year-old male who presented with insidious onset proximal muscle weakness with myopathic pattern on electromyography.

Unravelling the Reasons Behind Limited Response to Anti-PD Therapy in ATC: A Comprehensive Evaluation of Tumor-Infiltrating Immune Cells and Checkpoints.

Inhibiting the immune checkpoint (ICP) PD-1 based on PD-L1 expression status has revolutionized the treatment of various cancers, yet its efficacy in anaplastic thyroid carcinoma (ATC) remains limited. The therapeutic response depends upon multiple factors, particularly the conduciveness of the tumor's immune milieu. This study comprehensively evaluated and classified ATC's immune microenvironment (IME) to elucidate the factors behind suboptimal response to anti-PD therapy.

Astroblastoma: A molecularly defined entity, its clinico-radiological & pathological analysis of eight cases and review of literature.

Astroblastoma, a unique entity of glial tumor, predominantly occur in young women with distinctive MN1 rearrangement, Given its limited documentation in existing literature, we report eight cases of astroblastoma, detailing their clinical, radiological, and histopathological characteristics along with molecular analysis. We conducted a retrospective analysis of our neuropathology archive database spanning the past 8 years. We included all cases that underwent Magnetic Resonance Imaging (MRI), surgical resection, histopathological examination, molecular testing, and follow-up.

Clinical utility of plasma cell-free DNA (cfDNA) in diffuse gliomas for the detection of IDH1 R132H mutation.

Liquid biopsy for CNS tumors is in its nascent phase, hindered by the low levels of circulating tumor DNA (ctDNA). Overcoming this challenge requires highly sensitive molecular techniques. DD-PCR emerges as a standout technique due to its ability to identify rare mutations, copy number variations, and circulating nucleic acids, making it one of the best methods for identifying somatic mutations in cell-free DNA (cfDNA).

Prolactin Secreting Pituitary Carcinoma and the Role of Peptide Receptor Radionuclide Therapy: A Brief Report.

Pituitary carcinoma is a rare entity comprising 0.1-0.2% of all pituitary tumors and presents significant diagnostic and therapeutic challenges.

Evaluation of prognostic biomarkers in meningiomas and their clinical implications in settings with limited resources.

Background: The 5th edition of the World Health Organization (WHO) Central Nervous System (CNS) tumor classification for meningiomas acknowledges the clinical relevance of genomic profiling studies and emphasizes the importance of incorporating molecular information alongside histopathological features, leading to more accurate diagnoses and improved patient care.

Methods: We analyzed 206 meningioma samples (108 histological grade 1, 89 grade 2, and 9 grade 3) to study mutations, homozygous deletion, loss of H3K27me3, and p16 expression. The association of these molecular markers with survival outcomes was also assessed.

Implementation of the recommended immunohistochemistry algorithm for classification of peripheral T-cell lymphoma, not otherwise specified into the prognostically significant GATA3 and TBX21 subtypes.

Introduction: Current molecular research has shown the several oncogenic pathways that give rise to the peripheral T-cell lymphoma, not otherwise defined (PTCL, NOS) subtypes, which alter prognosis and might have predictive value. This study was conducted to assess the immunohistochemistry (IHC) algorithm by Amador et al for the subtyping of PTCL, NOS and determine its applicability in relation to the clinicopathological profile.

Methods: This study included 43 patients with PTCL, NOS diagnosis.

Code Crimson: A Postpartum Hemorrhage Bundled Intervention Quality Improvement Project.

Background: Postpartum hemorrhage (PPH) is a leading cause of maternity mortality in the United States. The Code Crimson project aimed to enhance PPH management by implementing a standardized intervention bundle to mitigate morbidity and mortality associated with PPH.

Local Problem: At a large Philadelphia tertiary hospital, health disparities existed for severe maternal morbidity and mortality, and PPH was a significant factor.

Novel mutations in diffuse midline gliomas using cost-effective strategies: A report of 2 cases.

Background: Diffuse midline gliomas (DMGs) are malignant tumors predominantly affecting children, often leading to poor outcomes. The 2021 World Health Organization classification identifies 3 subtypes of DMGs, all characterized by the loss of H3K27 trimethylation. Here, we report 2 cases of DMG with Epidermal Growth Factor Receptor () mutations within exon 20, contributing to the understanding of the molecular complexity of these pediatric brain tumors.

Evaluation of KIAA1549::BRAF fusions and clinicopathological insights of pilocytic astrocytomas.

Background: Pilocytic astrocytoma (PAs) represents a significant portion of childhood primary brain tumors, with distinct histological and radiological features. The prevalence of KIAA1549::BRAF fusion in PAs has been well-established, this study aims to assess the prevalence of KIAA1549::BRAF fusions and explore their associations with tumor characteristics, radiological findings, and patient outcomes in PAs.

Methods: Histologically confirmed cases of PAs from a 5-year period were included in the study.

Integrated Proteomics and Protein Co-expression Network Analysis Identifies Novel Epileptogenic Mechanism in Mesial Temporal Lobe Epilepsy.

Over 50 million people worldwide are affected by epilepsy, a common neurological disorder that has a high rate of drug resistance and diverse comorbidities such as progressive cognitive and behavioural disorders, and increased mortality from direct or indirect effects of seizures and therapies. Despite extensive research with animal models and human studies, limited insights have been gained into the mechanisms underlying seizures and epileptogenesis, which has not translated into significant reductions in drug resistance, morbidities, or mortality. To better understand the molecular signaling networks associated with seizures in MTLE patients, we analyzed the proteome of brain samples from MTLE and control cases using an integrated approach that combines mass spectrometry-based quantitative proteomics, differential expression analysis, and co-expression network analysis.

Deciphering pancreatic neuroendocrine tumors: Unveiling through circulating small extracellular vesicles.

The survival rate over a five-year period for rare pancreatic neuroendocrine tumors (PanNET) is notably lower compared to other neuroendocrine tumors due to late-stage detection, which is a consequence of the absence of suitable diagnostic markers; therefore, there exists a critical need for an early-stage biomarker-specific to PanNETs. This study introduces a novel approach, investigating the impact of small extracellular vesicles (sEV) in PanNET growth and metastasis. As proof of concept, this study shows a correlation between sEV concentration in controls and PanNET.

Comparative Analysis of Hemispherotomy in Adults versus Children- A Prospective Observational Series.

Background: Hemispherotomy (HS) is an effective treatment for unilateral hemispheric onset epilepsy. There are few publications for HS in adults, and there is no series comparing adults and pediatric patients of HS.

Objective: To compare the hemispherotomies done in adult patients with pediatric ones in terms of efficacy and safety.

MYCN immunohistochemistry as surrogate marker for MYCN-amplified spinal ependymomas.

MYCN (master regulator of cell cycle entry and proliferative metabolism) gene amplification defines a molecular subgroup of spinal cord ependymomas that show high-grade morphology and aggressive behavior. Demonstration of MYCN amplification by DNA methylation or fluorescence-in situ hybridization (FISH) is required for diagnosis. We aimed to (i) assess prevalence and clinicopathological features of MYCN-amplified spinal ependymomas and (ii) evaluate utility of immunohistochemistry (IHC) for MYCN protein as a surrogate for molecular testing.

Malignancy arising in adamantinomatous craniopharyngioma: Report of a rare case with unusual morphologic features.

Adamantinomatous craniopharyngioma is a grade 1 tumor that arises in a sellar/suprasellar location. Despite being a grade 1 tumor, there is high recurrence and endocrinal insufficiency. Malignancy arising in craniopharyngioma is extremely rare, has a dismal prognosis, and is currently not included as a separate entity in the World Health Organization Classification of Central Nervous System 5th edition.

Spinal astroblastoma, MN1 altered in 3-year-old child: An uncommon tumor at an unusual site.

Astroblastoma is an uncommon circumscribed glial tumor mostly involving the cerebral hemisphere. The characteristic molecular alteration is meningioma (disrupted in balanced translocation) 1 (MN1) rearrangement. No definite World Health Organization grade has been assigned as both low- and high-grade tumors are known to occur.

Metastatic alveolar soft part sarcoma of the kidney in a young female.

A 19-year-old female presented with left flank discomfort and swelling. Imaging revealed a large mass arising from the left kidney, and radical nephrectomy confirmed the diagnosis of alveolar soft part sarcoma (ASPS) based on histopathological and ultrastructural examination. Postoperatively, positron emission tomography-computerized tomography showed lung metastasis and renal bed recurrence.

Analysis of Histomorphologic/Molecular Association and Immune Checkpoint Regulators in Epithelioid Glioblastoma and Pleomorphic Xanthoastrocytoma: Are These Tumors Potential Candidates for Immune Checkpoint Blockade?

Accurate diagnosis of Epithelioid glioblastoma (eGB) and pleomorphic xanthoastrocytoma (PXA) is sometimes challenging owing to overlapping histologic and genetic features. There are limited reports on the immune profile of these tumors. In this study, we assessed 21 PXA [15 PXA Grade 2 (PXAG2); 6 PXA Grade 3 (PXAG3)] and 14 eGB for their histopathological and molecular association.