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Article
Open AccessGermline findings in cancer predisposing genes from a small cohort of chordoma patients
Chordoma is a rare slow-growing tumor that occurs along the length of the spinal axis and arises from primitive notochordal remnants (Stepanek et al., Am J Med Genet 75:335–336, 1998). Most chordomas are spora...
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Article
Open AccessMolecular characteristics and improved survival prediction in a cohort of 2023 ependymomas
The diagnosis of ependymoma has moved from a purely histopathological review with limited prognostic value to an integrated diagnosis, relying heavily on molecular information. However, as the integrated appro...
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Article
Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions
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Article
Recurrent ACVR1 mutations in posterior fossa ependymoma
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Article
High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13
Tumors of the central nervous system (CNS) often display a wide morphologic spectrum that has, until recently, been the sole basis for tumor classification. The introduction of the integrated histomolecular di...
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Article
Open AccessHigh level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma
We report a novel group of clinically aggressive spinal cord ependymomas characterized by Grade III histology, MYCN amplification, an absence of NF2 alterations or other recurrent pathogenic mutations, and a uniq...
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Article
Open AccessThe first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report
Li-Fraumeni syndrome is a cancer predisposition syndrome caused by germline TP53 tumor suppressor gene mutations, with no previous association with pancreatic neuroendocrine tumors (PNETs). Here we present the fi...
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Article
IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype
Severe combined immunodeficiency (SCID) is most frequently caused by mutations in the cytokine receptor common gamma chain, CD132, encoded by the X-linked gene, IL2RG. Most patients present in the first year of l...
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Article
Open AccessMesothelioma patient derived tumor xenografts with defined BAP1 mutations that mimic the molecular characteristics of human malignant mesothelioma
The development and evaluation of new therapeutic approaches for malignant mesothelioma has been sparse due, in part, to lack of suitable tumor models.
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Article
Nodular Regenerative Hyperplasia in Common Variable Immunodeficiency
Patients with Common Variable Immunodeficiency (CVID) are subject to the development of a liver disease syndrome known as nodular regenerative hyperplasia (NRH). The purpose of this study was to define the cha...
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Article
Open AccessKaposi sarcoma herpesvirus (KSHV)-associated lymphomas are associated with markedly elevated serum IL-10, elevated IL-6, IL-17 and circulating KSHV
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Protocol
Avidin-Biotin Labeling of Cellular Antigens in Cryostat-Sectioned Tissue
Advances in immunohistochemical technologies have greatly improved the ability to visualize antigens in formalin-fixed paraffin-embedded tissues. Nonetheless, there are occasions in which there may be no alter...
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Protocol
Heat-Induced Antigen Retrieval for Immunohistochemical Reactions in Routinely Processed Paraffin Sections
The development of heat-induced antigen (epitope) retrieval (HIER) technologies has led to dramatic improvements in our ability to detect antigens in formalin fixed, archival tissues. Paradoxically, wet heat t...
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Protocol
Multiple Antigen Immunostaining Procedures
Detection of multiple antigens in the same tissue section can be done by combining a range of immunohisto/cytochemical techniques based either on light microscopic chromogenic precipitates or fluorochrome labe...
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Article
Differential expression of IRF8 in subsets of macrophages and dendritic cells and effects of IRF8 deficiency on splenic B cell and macrophage compartments
IRF8, a transcription factor restricted primarily to hematopoietic cells, is known to influence the differentiation and function of dendritic cells (DC), macrophages, granulocytes and B cells. In human tonsil,...
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Article
Open AccessGene expression profiling of alveolar soft-part sarcoma (ASPS)
Alveolar soft-part sarcoma (ASPS) is an extremely rare, highly vascular soft tissue sarcoma affecting predominantly adolescents and young adults. In an attempt to gain insight into the pathobiology of this eni...
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Article
Characterization of T-cell repertoire in hairy cell leukemia patients before and after recombinant immunotoxin BL22 therapy
We previously reported that hairy cell leukemia (HCL) patients have high percentages of CD56+/CD57+/CD3+ large granular lymphocytes consistent with cytotoxic T-lymphocytes (CTLs), and other investigators have ...
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Article
Primary Cutaneous CD30-Positive Anaplastic Large Cell Lymphoma in Childhood: Report of 4 Cases and Review of the Literature
We present the clinicopathologic findings in 4 children with primary cutaneous anaplastic large cell lymphoma (C-ALCL). The patients ranged in age from 13 months to 8 years, with 3 females and 1 male. All pres...
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Article
c-myc box II mutations in Burkitt's lymphoma-derived alleles reduce cell-transformation activity and lower response to broad apoptotic stimuli
In addition to c-myc rearrangement, over 50% of Burkitt's lymphoma cases present clustered mutations in exon 2, where many of the functional activities of c-Myc protein are based. This report describes the functi...
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Article
Gene expression changes during hormonal therapy for prostate cancer reveal candidate diagnostic and drug targets
