Background: Relapsed medulloblastoma (MB) poses a significant therapeutic challenge due to its highly immunosuppressive tumor microenvironment. Immune checkpoint inhibitors (ICIs) have struggled to mitigate this challenge, largely due to low T-cell infiltration and minimal PD-L1 expression. Identifying the mechanisms driving low T-cell infiltration is crucial for developing more effective immunotherapies.
View Article and Find Full Text PDFFrom the existing millions of fungal species, only a few cause disease. In this study, we investigated invasive fungal infections in the head and neck (H&N) over a 19-year period (2005 to 2024) at a large academic healthcare system. Among the 413 documented fungal H&N infections, 336 were noninvasive, and 77 were invasive.
View Article and Find Full Text PDFAtypical teratoid rhabdoid tumor (ATRT) is a rare and highly aggressive primary CNS neoplasm, predominantly observed in children. The use of autologous stem cell transplantation (ASCT) in pediatric ATRT has shown promise; however, its utility in adult ATRT remains unclear. This study presents the case of an adult patient with ATRT who is in remission after ASCT and reviews the literature on ASCT in adults with ATRT.
View Article and Find Full Text PDFBackground: Tau pathology is common in age-related neurodegenerative diseases. Tau pathology in primary age-related tauopathy (PART) and in Alzheimer's disease (AD) has a similar biochemical structure and anatomic distribution, which is distinct from tau pathology in other diseases. However, the molecular changes associated with intraneuronal tau pathology in PART and AD, and whether these changes are similar in the two diseases, is largely unexplored.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
June 2022
Nodular fasciitis is a benign, idiopathic condition that can simulate both benign and malignant neoplasms. In adults, it generally occurs in the subcutaneous or superficial fascia of the trunk or upper extremities; occurrence in the periorbital region is far less common. We describe a case of a 16-year-old male with a 4-month history of a nodular, non-tender, progressively enlarging mass of the superotemporal periorbita.
View Article and Find Full Text PDFBackground: GammaTile® (GT) is a recent U.S. Food and Drug Administration (FDA) cleared brachytherapy platform.
View Article and Find Full Text PDFBackground: The MEK1/2 inhibitor selumetinib was recently approved for neurofibromatosis type 1 (NF1)-associated plexiform neurofibromas, but outcomes could be improved and its pharmacodynamic evaluation in other relevant tissues is limited. The aim of this study was to assess selumetinib tissue pharmacokinetics (PK) and pharmacodynamics (PD) using a minipig model of NF1.
Methods: WT ( = 8) and NF1 ( = 8) minipigs received a single oral dose of 7.
Background: Thermal coagulation is a central principle in surgery, particularly regarding hemostasis, as well as being an integral part of intracranial tumor removal. Traditionally, surgical hemostasis is achieved through application of unipolar or bipolar electrocautery. This method has been contemporized and specialized to treat intracranial tumors through a technique called stereotactic laser ablation (SLA), also known as laser interstitial thermal therapy.
View Article and Find Full Text PDFUveal melanomas are typically described as having epithelial or spindled cell morphology; however, as is the nature of melanomas, the morphology of the malignant melanocytes can be varied. We describe a unique case of metastatic uveal melanoma with lipoblast-like morphology, identified in the liver during an autopsy of a 75-year-old woman. Apart from a remote history of uveal melanoma in the right eye, there was no other history of cancer, and there were no concerning skin lesions present.
View Article and Find Full Text PDFBackground: Alzheimer's disease (AD) is an epidemic with tremendous public health impacts because there are currently no disease-modifying therapeutics. Randomized controlled trials (RCTs) for prevention of AD dementia often use clinical endpoints that take years to manifest (e.g.
View Article and Find Full Text PDFJ Neuropathol Exp Neurol
January 2020
To evaluate a potential relationship between BRAF V600E mutation and PD-L1 expression, we examined the expression of PD-L1 in pediatric high- and low-grade glioma cell lines as well as a cohort of pediatric low-grade glioma patient samples. Half of the tumors in our patient cohort were V600-wildtype and half were V600E mutant. All tumors expressed PD-L1.
View Article and Find Full Text PDFBackground: Glioblastoma multiforme (GBM) is a rapid-growing central nervous system neoplasm. We report a case of GBM with extensive intramedullary lumbar drop metastasis and highly unusual osseous spine metastasis from a primary infratentorial GBM occurring 10 years after the initial diagnosis, which to our knowledge has not been described previously.
Case Description: This 37-year-old man presented with new-onset headaches of increasing severity.
Introduction: Primary age-related tauopathy (PART) is a recently described entity that can cause cognitive impairment in the absence of Alzheimer's disease (AD). Here, we compared neuropathological features, tau haplotypes, apolipoprotein E (APOE) genotypes, and cognitive profiles in age-matched subjects with PART and AD pathology.
Methods: Brain autopsies (n = 183) were conducted on participants 85 years and older from the Baltimore Longitudinal Study of Aging and Johns Hopkins Alzheimer's Disease Research Center.
Background: This study evaluated the expression of PD-L1 and markers of immune mediated resistance in human medulloblastoma (MB), the most common malignant pediatric brain tumor.
Results: Overall levels of PD-L1 in human MB were low; however, some cases demonstrated robust focal expression associated with increased immune infiltrates. The case with highest PD-L1 expression was a sonic hedgehog (SHH) MB.
We have identified a discrete, focal telomere DNA expansion phenotype in the photoreceptor cell layer of normal, non-neoplastic human retinas. This phenotype is similar to that observed in a subset of human cancers, including a large fraction of tumors of the central nervous system, which maintain their telomeres via the non-telomerase-mediated alternative lengthening of telomeres (ALT) mechanism. We observed that these large, ultra-bright telomere DNA foci are restricted to the rod photoreceptors and are not observed in other cell types.
View Article and Find Full Text PDFClinical tissues are prepared for histological analysis and long-term storage via formalin fixation and paraffin embedding (FFPE). The FFPE process results in fragmentation and chemical modification of RNA, rendering it less suitable for analysis by techniques that rely on reverse transcription (RT) such as RT-qPCR and RNA-Seq. Here we describe a broadly applicable technique called 'Ligation in situ Hybridization' ('LISH'), which is an alternative methodology for the analysis of FFPE RNA.
View Article and Find Full Text PDFJ Korean Neurosurg Soc
September 2016
Objective: To determine imaging features that may separate adamantinomatous and papillary variants of craniopharyngiomas given that tumors with adamantinomatous signature features are associated with higher recurrence rates, morbidity, and mortality. We specifically reviewed calcification on CT, T1 bright signal intensity, and cystic change on T2 weighted images for differentiating these two types.
Methods: We retrospectively reviewed the MRI and CT studies in 38 consecutive patients with pathologically proven craniopharyngiomas between January 2004 and February 2014 for the presence of calcification on CT scans, bright signal intensity on T1 weighted images, and cystic change on T2 weighted images.
Ocul Oncol Pathol
December 2015
Purpose: Identifying intraepithelial sebaceous carcinoma cells in small periocular biopsies can be difficult, particularly in the conjunctiva. The goal of this study was to evaluate p53 and p16 immunohistochemistry as potential markers of intraepithelial sebaceous carcinoma.
Procedures: A total of 25 tumors, including 4 recurrent lesions, were stained for p16 and p53, with intensity scored as negative, weak, moderate or strong.
Purpose: To apply DTI to detect early extrapontine extension of pediatric diffuse intrinsic pontine glioma along the corticospinal tracts.
Methods: In children with diffuse intrinsic pontine glioma, low-grade brainstem glioma, and age-matched controls, DTI metrics were measured in the posterior limb of the internal capsule and posterior centrum semiovale. Histological examination was available in one patient.
Gliomas are among the most frequent adult primary brain tumors. Mutations in IDH1, a metabolic enzyme, strongly correlate with secondary glioblastomas and increased survival. cMYC is an oncogene also implicated in aberrant metabolism, but its prognostic impact remains unclear.
View Article and Find Full Text PDFIntroduction: Vibrio vulnificus infection, an uncommon but life-threatening illness, manifests as two main types, primary septicemia and primary wound infections. Little information regarding the seasonality of V. vulnificus infections in tropical areas and prognostic factors of primary V.
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