ABSTRACT
ABSTRACT: Volatile chemicals can be relevant in the determination of the cause and manner of death by forensic pathologists. Isopropanol is a secondary alcohol that is occasionally seen on postmortem toxicology testing. A series of 11 forensic autopsy cases was previously reported in which the presence of isopropanol in the vitreous humor was suspected to be due to postmortem contamination from the body preparation process for tissue procurement.In collaboration with a tissue procurement agency, donor vitreous humor was collected from one eye before body preparation for procurement and from the other eye postpreparation. The specimens underwent testing for volatile substances by headspace gas chromatography.Of the 50 cases, 8 (16%) showed statistically significant changes in the prepreparation and postpreparation isopropanol concentrations. Postpreparation isopropanol concentrations ranged from 5 to 104 mg/dL (median, 18 mg/dL). Seven of the 8 cases had undetectable prepreparation isopropanol, whereas the remaining case had a detectable prepreparation isopropanol.In conclusion, surface contamination of the decedent's body with chemicals used in body preparation can lead to the passive absorption into the body, resulting in the presence of isopropanol in postmortem toxicology samples. Forensic pathologists need to be aware of this when interpreting postmortem samples after tissue procurement.
Subject(s)
Body Fluids , Tissue and Organ Procurement , Humans , Autopsy , 2-Propanol/analysis , Ethanol/analysis , Body Fluids/chemistry , Postmortem ChangesABSTRACT
Purpose: Intraocular medulloepithelioma (IM), the second most common primary neuroepithelial tumor of the eye, can lead to blindness in the affected eye and in rare cases, is deadly. Intraocular medulloepithelioma lacks targetable biomarkers for potential pharmacologic therapy. The purpose of this study was to identify actionable, tumor-specific proteins for potential diagnostic or therapeutic strategies. We hypothesize that the tumor-specific epigenetic enzyme EZH2 is selectively expressed in IM. Methods: We conducted a retrospective case series study of five IM from five eyes of four children and one adult. Hematoxylin and eosin (H&E) stains of sections from formalin-fixed, paraffin-embedded blocks of IM tumors were used to localize IM tumor cells in each case. Using an EZH2-specific antibody for immunohistochemistry, we semiquantitatively calculated the proportion of IM tumor cells positive for EZH2, and also assayed for EZH2 staining intensity. Results: We found that EZH2 was expressed in all IM cases but this protein was absent in nontumor ciliary body or retinal tissues. However, not all IM tumor cells expressed EZH2. Similar to retinoblastoma, moderately to poorly differentiated (primitive appearing) IM tumor cells strongly expressed EZH2; expression was weaker or absent in areas of well-formed neuroepithelial units. Conclusions: To our knowledge, this is the first study to identify an actionable tumor-specific maker, EZH2, in IM. Our findings point to the possibility of exploring the potential of EZH2 inhibitors, already in clinical trials for other cancers, for IM.
Subject(s)
Enhancer of Zeste Homolog 2 Protein/biosynthesis , Neuroectodermal Tumors, Primitive/metabolism , Retinal Neoplasms/genetics , Adolescent , Adult , Biomarkers, Tumor/biosynthesis , Cell Differentiation , Child , Child, Preschool , Epigenomics , Follow-Up Studies , Humans , Immunohistochemistry , Neuroectodermal Tumors, Primitive/pathology , Retinal Neoplasms/metabolism , Retinal Neoplasms/pathology , Retrospective Studies , Young AdultABSTRACT
Cryocrystalglobulinemia is a rare variant of cryoglobulinemia in which monoclonal immunoglobulins self-assemble into crystalline arrays. We report a case of a 53-year-old man who presented with systemic thrombotic microangiopathy causing multiorgan failure, including decreased kidney, lung, and gastrointestinal function; skin necrosis; and mental status changes. Skin and kidney biopsy specimens showed intravascular thrombi, along with intravascular, intratubular, and periglomerular crystalline deposits. Typical morphologic features of cryoglobulinemia, such as a leukocytoclastic vasculitis and pseudothrombi, were absent. Spindled crystals precipitated in the cryoglobulin assay, and immunofixation showed them to be composed of monoclonal immunoglobulin G κ light chains. Ultrastructural analysis demonstrated deposits to have an array-like substructure. The patient was successfully treated with a combination of plasmapheresis, steroids, and bortezomib, but experienced a relapse and died 12 months after his initial diagnosis. Cryocrystalglobulinemia causes significant morbidity and mortality and should be classified as a monoclonal gammopathy of renal significance when it occurs in patients not meeting diagnostic criteria for multiple myeloma.
