SMARCA4 gene encodes BRG1 , a member of the SWItch/sucrose non-fermentable protein family involved in epigenetic transcriptional regulation of important cellular processes. In the uterine corpus, SMARCA4 / BRG1 deficiency is associated with a novel class of undifferentiated uterine sarcomas, characterized by younger age onset, rhabdoid histology, focal phyllodiform architecture, high-risk pathologic findings, and dismal prognosis. Herein, we report a case of a 34-year-old Asian woman with a SMARCA4 / BRG1 -deficient uterine tumor fulfilling the clinicopathologic features of an undifferentiated uterine sarcoma.
View Article and Find Full Text PDF•/INI1-deficient gynecologic tumors are rare and clinically aggressive. A subset shows primitive yolk sac tumor features.•Due to technical limitation of next generation sequencing (NGS) and interlaboratory variability in sequencing methodologies and analytical pipelines, deficiency caused by somatic copy number variations (SCNV) may be underreported by NGS.
View Article and Find Full Text PDFChromophobe renal cell carcinoma (chRCC) is one of the less common types of kidney cancer and generally portends a more favorable prognosis. RCC with sarcomatoid differentiation has a more aggressive clinical course with poor outcomes. Four cases of chRCC with varying degrees of sarcomatoid differentiation were retrospectively reviewed at our institution, and clinicopathologic data as well as clinical courses were reported.
View Article and Find Full Text PDFFoam cells are dysfunctional, lipid-laden macrophages associated with chronic inflammation of diverse origin. The long-standing paradigm that foam cells are cholesterol-laden derives from atherosclerosis research. We previously showed that, in tuberculosis, foam cells surprisingly accumulate triglycerides.
View Article and Find Full Text PDFBackground: In recent years, there has been a surge of interest in clinical digital pathology (DP). Hardware and software platforms have matured and become more affordable, and advances in artificial intelligence promise to transform the practice of pathology. At our institution, we are launching a stepwise process of DP adoption which will eventually encompass our entire workflow.
View Article and Find Full Text PDFRenal angiomyolipomas (AMLs) are a subset of perivascular epithelioid cell neoplasms (PEComas) that are associated with tuberous sclerosis complex (TSC). Epithelioid angiomyolipomas (EAMLs) are a rare variant of AML with more aggressive propensities. EAMLs with malignant potential can be difficult to distinguish from relatively benign AMLs and other renal tumors.
View Article and Find Full Text PDFWe report on an enhancing, heterogenous renal pelvis mass growing over 2 years which was found to be a benign hibernoma with inflammatory and lipomatous features originating from the renal hilum. To our knowledge, this is the first case reported on a hibernoma compressing on the renal pelvis and second case of a hibernoma with the inflammatory variant.
View Article and Find Full Text PDFColon cancer has a high incidence of metastasis, with an estimated 0.8-7.4% of colorectal adenocarcinoma (CRC) cases metastasizing to the ovary.
View Article and Find Full Text PDFBackground: Prostate cancer (PCa) phenotypes vary from indolent to aggressive. Molecular subtyping may be useful in predicting aggressive cancers and directing therapy. One such subtype involving deletions of chromodomain helicase DNA binding protein 1 (), a tumor suppressor gene, are found in 10-26% of PCa tumors.
View Article and Find Full Text PDFIntroduction: Magnetic resonance imaging (MRI)-ultrasound fusion targeted prostate biopsy (FB) has been advocated by many experts as a replacement for the standard template biopsy. Herein, we compared pathology results and cancer detection rates of FB with our standard 14-core systematic prostate biopsy (SB) that includes 2 anterior cores.
Materials And Methods: One hundred two men with elevated prostate-specific antigen and suspicious lesions on multiparametric MRI, Prostate Imaging Reporting And Data System (PI-RADS) v2 score ≥ 3, underwent FB.
Abdominal lipoblastomas are uncommon soft tissue tumors in children and rarely arise from the mesentery. Due to intraabdominal location and slow growth, these masses can go unnoticed for long periods of time and often found on surgical exploration. We present a case of a 12-year-old male with years of abdominal distension accompanied by new onset early satiety that was found to have an intra-abdominal mass.
View Article and Find Full Text PDFBackground: Stage III renal cell carcinoma (RCC) encompasses both lymph node-positive (pT1-3N1M0) and lymph node-negative (pT3N0M0) disease. However, prior institutional studies have indicated that among patients with stage III disease, those with lymph node disease have worse oncologic outcomes and experience survival that is similar to that of patients with American Joint Committee on Cancer (AJCC) stage IV disease. The objective of the current study was to validate these findings using a large, nationally representative sample of patients with kidney cancer.
View Article and Find Full Text PDFProstate cancer metastases are commonly seen in the skeleton, lymph nodes, lungs, or liver, and are associated with a poor five-year survival rate. Renal pelvis and ureteral metastasis are exceedingly uncommon and can present with obstructive symptoms or as an asymptomatic mass on imaging. We report the case of a 60-year-old patient who was initially diagnosed with prostate adenocarcinoma and experienced eventual metastasis to the right renal pelvis and proximal ureter.
View Article and Find Full Text PDFPrimary Ewing sarcoma of the kidney is an extremely rare and aggressive tumor affecting young adults. We present the case of a 22-year-old male with primary Ewing sarcoma/primitive neuroectodermal tumor (EWS/PNET) of the kidney who underwent right radical nephrectomy and adjuvant chemo-radiation.
View Article and Find Full Text PDFThe objective of this study is to report a benign mesenchymal neoplasm, cellular angiofibroma. We describe a 34-year-old male with a 4-month history of a painless right inguinal mass. CT scan of the abdomen and pelvis showed a 6.
View Article and Find Full Text PDFParagangliomas are rare neuroendocrine tumors with 500 to 1600 new cases in the United States each year (1). The clinical presentation may range from asymptomatic to the classic triad of episodic diaphoresis, headache, and palpitations. Surgery is the hallmark of treatment when tumors are amenable to resection.
View Article and Find Full Text PDFBackground: ONC201 is a small molecule antagonist of DRD2, a G protein-coupled receptor overexpressed in several malignancies, that has prolonged antitumor efficacy and immunomodulatory properties in preclinical models. The first-in-human trial of ONC201 previously established a recommended phase II dose (RP2D) of 625 mg once every three weeks. Here, we report the results of a phase I study that evaluated the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of weekly ONC201.
View Article and Find Full Text PDFIntroduction: CHD1 has been identified as a tumor suppressor gene in prostate cancer. Previous studies have shown strong associations between CHD1 deletion, prostate specific antigen [PSA] recurrence, and absence of ERG fusion. In this preliminary study we seek to find whether there is an independent correlation between CHD1 status and response to androgen deprivation therapy[ADT].
View Article and Find Full Text PDFOur recent study revealed recurrent chromosomal losses and somatic mutations of genes in the Hippo pathway in mucinous tubular and spindle cell carcinoma (MTSCC). Here, we performed an integrative analysis of 907 renal cell carcinoma (RCC) samples (combined from The Cancer Genome Atlas and in-house studies) and the Knepper data set of microdissected rat nephrons. We identified VSTM2A and IRX5 as novel cancer-specific and lineage-specific biomarkers in MTSCC.
View Article and Find Full Text PDFA 41-year-old female patient presented with left-sided flank pain and gross hematuria temporally unrelated to her menstrual cycle. Abdominal computed tomography scan showed a large left-sided solid, enhancing kidney mass radiographically consistent with renal cell carcinoma. Following surgical resection, histopathological examination revealed polypoid endometriosis.
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