Artificial intelligence-based epigenomic, transcriptomic and histologic signatures of tobacco use in oral squamous cell carcinoma.

Oral squamous cell carcinoma (OSCC) biomarker studies rarely employ multi-omic biomarker strategies and pertinent clinicopathologic characteristics to predict mortality. In this study we determine for the first time a combined epigenetic, gene expression, and histology signature that differentiates between patients with different tobacco use history (heavy tobacco use with ≥10 pack years vs. no tobacco use).

Unusual presentation of glioblastoma in the brainstem: a case report of a diffuse pontine glioblastoma multiforme and surgical management.

Diffuse pontine glioblastoma multiforme is a rare subtype of glioblastoma associated with a poor prognosis. In this case report, we present a unique case of diffuse primary pontine glioblastoma multiforme in a patient without any supratentorial lesions. We review the symptoms, treatment options, and case management of patients with infratentorial glioblastoma multiforme and compare these with our patient.

Isocitrate Dehydrogenase Mutations Are Associated with Different Expression and DNA Methylation Patterns of OLIG2 in Adult Gliomas.

Isocitrate dehydrogenase (IDH) mutant gliomas are associated with a better prognosis in comparison to adult IDH wild-type glioma and glioma-CpG island methylator phenotypes. Although OLIG2 is mainly expressed in oligodendrocytes in normal adult brain, it is expressed in both astrocytomas and oligodendrogliomas. Utilizing the clinical, DNA methylation, and RNA-sequencing data from the Cancer Genome Atlas (TCGA) for lower-grade glioma and glioblastoma cohorts, we explored the association between IDH mutation status and OLIG2 expression on transcription, DNA methylation, and gene target levels.

72-year-old man with right homonymous hemianopia and gait instability.

An elderly man presented with right homonymous hemianopia and gait instability. He was found to have a left occipital ring enhancing lesion that was resected. Neuropathologic examination demonstrated a Cladophialophora bantiana brain abscess (cerebral phaeohyphomycosis).

Immunoglobulin G4-related disease of the cavernous sinus with orbit invasion - A case report.

Background: Immunoglobulin G4-related disease (IgG4-RD) is a rare systemic disease of unknown etiology. It is characterized by tissue infiltration caused by IgG4 plasma cells and sclerosing inflammation of various body organs. At present, there are very few reported cases of IgG4-RD invasion of cavernous sinus and the orbit.

Hepatic Secondary Syphilis Can Cause a Variety of Histologic Patterns and May Be Negative for Treponeme Immunohistochemistry.

The rate of syphilis in the United States has been increasing steadily in the past decade, but it remains an uncommon diagnosis in tissue biopsies. Most of the pathology literature on hepatic syphilis consists of older series or case reports. This study aimed to systematically characterize the histologic spectrum of hepatic syphilis in a contemporary cohort.

Striking MRI Changes of Focal Cortical Dysplasia Over Time: A Case Series and Literature Review.

Purpose Of Review: Brain MRI findings of focal cortical dysplasia (FCD) can undergo dramatic changes over time, which may be related to long-term epilepsy or a combination of histopathologic changes that necessitate further investigation.

Recent Findings: We describe 2 cases of FCD type IIb that initially displayed inconspicuous findings on MRI, however progressed to obvious signal changes on subsequent MRI 10-17 years later. Pathologic analysis indicates that the interval changes are likely attributed to reactive astrogliosis and diffuse parenchymal rarefaction.

Organisms in the Upper Gastrointestinal Tract: A Report of 3 Cases With Varying Presentations.

species are anaerobic gram-positive cocci rarely seen in the upper gastrointestinal tract and associated with delayed gastric emptying. We present 3 cases of infection with varying clinical presentations including the first reported case of in a patient with eosinophilic esophagitis. Although the pathogenesis of is unclear, awareness of the bacteria is important as they can usually only be detected on histopathologic examination of upper gastrointestinal biopsies.

Saksenaea infection masquerading as a brain tumor in an immunocompetent child.

Saksenaea species are a rare cause of mucormycosis, the majority associated with cutaneous and subcutaneous infections resulting from trauma in both immunocompromised and immunocompetent individuals. Unlike other causative agents of mucormycosis, cerebral infections are exceptionally rare. We describe the first case of isolated cerebral infection by Saksenaea in a 4-year-old previously healthy male child who presented with headaches.

Concomitant and mutations in colorectal cancer.

and are two key oncogenes in the RAS/RAF/MEK/MAP-kinase signaling pathway. While previously considered mutually exclusive, concomitant mutations in both and genes have been identified in colorectal cancer (CRC). The clinical outcome of these patients remains undetermined.

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.

BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease.

Serous Cystadenocarcinoma Arising in Presumed Vitelline Duct Remnant: A Case Report and Implications in the Management of Cancer of Unknown Primary.

. Malignant neoplasms arising in Meckel's diverticulum, a vitelline duct remnant, are rare yet well-documented. .

Primary B-cell lymphoma of the uterine cervix: Presentation in Pap-test slide and cervical biopsy.

This case involved a 69-year-old female who presented with irritative urinary voiding. Imaging studies showed an 18-cm uterine mass centering on the cervix and extending into the bladder. The Pap test slide demonstrated necrotic background and degenerative changes in single and grouped atypical "small round blue cells" with high nuclear/cytoplasm ratio, scant cytoplasm, and hyperchromatic focally cleaved nuclei with occasional nuclear membrane "snout projections.

Post traumatic pulmonary pseudoaneurysm requiring pneumonectomy: a case report.

A 57-year-old male presented with progressive exertional dyspnea, cough, and hemoptysis. He underwent a chest computed tomography (CT) that demonstrated a 27 cm × 20 cm right chest mass that was causing a local mass effect. Pertinent history revealed that the patient had suffered a severe chest trauma from a MVA in 1981.

Percutaneous Sentinel Node Biopsy in Breast Cancer: Results of a Phase 1 Study.

Background: While sentinel lymph node dissection (SLND) provides axillary staging, recent trials question the necessity of removing positive nonsentinel axillary lymph nodes (LN) in breast cancer. We sought to determine the technical feasibility of percutaneous core needle biopsy (PNB) of axillary sentinel lymph nodes (SLNs).

Methods: After dual tracer injection, 25 patients underwent intraoperative axillary ultrasound and ultrasound guided per PNB of the axillary LN at the site of radiotracer uptake, followed by standard SLND.

Gastrointestinal stromal tumor with an unusual presentation as an enlarged prostate gland: a case report and review of the literature.

We report a case of a 78-year-old male who presented with urinary retention, constipation and an enlarged prostate gland. A transurethral resection of the prostate (TURP) was performed. Pathologic examination revealed a hypercellular-spindled neoplasm with frequent mitoses, nuclear pleomorphism, and multifocal geographic tumoral necrosis.

Image-guided transoral resection of recurrent parapharyngeal space glial heterotopia.

Intranasal glial heterotopia is an uncommon congenital nasal lesion of neuroectoderm origin. Involvement of the parapharyngeal space is extremely rare. We present a case report of a newborn with life-threatening respiratory distress and feeding difficulty caused by a nasal glial heterotopia in a rare location involving the nasopharynx and parapharyngeal space.

Juvenile xanthogranulomas of the nervous system: A report of two cases and review of the literature.

Juvenile xanthogranulomas (JXG) are uncommon non-Langerhans cell histiocytic proliferations which arise most often in children. While most cases present as solitary cutaneous lesions, occasional cases involve extracutaneous sites. Rare examples of JXGs have been reported involving all levels of the neuroaxis.

Craniocerebral trauma inflicted by television falls.

Accidents and inflicted trauma account for 33% and 5-8% of childhood deaths, respectively. Injuries secondary to falling televisions have been reported in the clinical literature. However, descriptions of such injuries at autopsy are limited.

Immunohistochemical expression of embryonic stem cell markers in malignant rhabdoid tumors.

Malignant rhabdoid tumor is a highly aggressive pediatric neoplasm molecularly characterized by inactivating mutations of the SMARCB1 gene, a potent tumor suppressor and member of the SWI/SNF chromatin remodeling complex. It has been suggested that oncogenesis in SMARCB1-deficient cancers, such as malignant rhabdoid tumors, is driven not by the loss of SWI/SNF function but by an aberrant functioning of the BRG1-containing SWI/SNF complex. Since Brg1 is required for self-renewal and pluripotency of mouse embryonic stem cells, we hypothesized that the human malignant rhabdoid tumors may express pluripotency genes such as SALL4 , LIN28 , OCT3 and OCT4 (OCT3/4) , NANOG , and TCL1 .

Immunoexpression of SALL4 in Wilms tumors and developing kidney.

SALL4 is a zinc finger transcription factor that plays a role in the maintainance and pluripotency of embryonic stem cell and is important in renal development where SALL4 mutations give rise to renal malformations. Because Wilms tumor recapitulates renal embryogenesis, we hypothesized that Wilms tumor cells may also express SALL4. We performed immunohistochemistry for SALL4 on tissue microarray sections of Wilms tumors, nephrogenic rests, and fetal renal cortices.

S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.