Given the diverse clinical progression of prostate cancer (PC) and the evolving significance of histopathological factors in its management, this study aimed to explore the impact of cribriform ...pattern 4 (CP4) on clinical outcomes in PC patients and examine its molecular characteristics.
This retrospective study analyzed data from The Cancer Genome Atlas (TCGA) database and included PC patients who underwent radical prostatectomy (RP) and had pathology slides available for the assessment of CP4. A multivariable competing risk regression analysis was used to assess the association between CP4 and progression-free survival (PFS) while adjusting for established PC prognostic factors. The frequency of genomic alterations was compared between patients with and without CP4 using the Fisher's exact test.
Among the 394 patients analyzed, 129 (32.74%) had CP4. After a median follow-up of 40.50 months (IQR: 23.90, 65.60), the presence of CP4 was significantly associated with lower PFS (AHR, 1.84; 95% CI, 1.08 to 3.114;
= 0.023) after adjusting for covariates. Seven hub genes-KRT13, KRT5, KRT15, COL17A1, KRT14, KRT16, and TP63-had significantly lower mRNA expression levels in patients with CP4 compared to those without.
PC patients with CP4 have distinct genomic alterations and are at a high risk of disease progression following RP. Therefore, these patients may benefit from additional post-RP treatments and should be the subject of a prospective randomized clinical trial.
Renal cell carcinoma, unclassified (RCC-U), is a heterogenous group of tumors that do not fit in any of the recognized histologic types. Immunohistochemical studies are frequently used to ...characterize these tumors. Herein, we sought to investigate the immunophenotypes of 300 cases of RCC-U. The cases were morphologically classified into three groups: oncocytoma/chromophobe renal cell carcinoma–like, group 1; clear cell renal cell carcinoma–like, group 2; and others (ie, papillary renal cell carcinoma–like/collecting duct–like/pure sarcomatoid), group 3. The male-to-female ratio was 1.4. Most cases (168, 66%) were group 1. Group 3 was associated with larger tumor size, advanced stage, and frequent lymph node metastases. The most commonly used immunohistochemical stains were CK7 (n = 270; 89.5%), vimentin (n = 186, 82%), CD10 (n = 181; 59.9%), and AMACR (n = 162; 54%). Pancytokeratin (79/101; 78.2%) and PAX8 (54/61; 88.5%) were diffusely positive in most cases, followed by AMACR (69/117; 59%). CD117 was positive in 53 of 118 cases (45%). RCC-U is a morphologically and immunophenotypically heterogenous group of tumors, and comprehensive workup is needed before rendering the diagnosis.
•Renal cell carcinoma, unclassified (RCC-U) is a diagnosis of exclusion.•RCC-U is a morphologically and immunophenotypically heterogenous group of tumors.•The diagnosis of RCC-U should be rendered after comprehensive workup.
•Clear cell adenocarcinoma of the lower urinary tract is rare and poses diagnostic challenge.•GATA3, which is frequently expressed in urothelial carcinoma, can be expressed in clear cell ...adenocarcinoma.•ARID1A, PBRM1, ERBB4, and SMARCA4 mutations were identified in the current CASE.•Molecular studies may aid in the diagnosis, and optimal treatment decision-making process.
Inflammatory myofibroblastic tumors (IMT) of the urachus is a rare neoplastic condition characterized by proliferation of spindle cell, likely derived from myofibroblasts or fibroblasts, with acute ...and chronic inflammatory infiltrate. Urachal IMT present with abdominal/pelvic pain and urinary symptoms. These often manifest as abdominal mass involving adjacent structures. We describe a case of young female with urachal IMT that was excised with a wide margin to ensure complete removal of all adjacent affected tissue using robotic-assisted laparoscopic approach. Immunohistochemical evidence of ALK and ALK gene rearrangement were confirmed in this tumor which are diagnostic of IMT.
Germline disruptive variants in
(
) predispose to a wide variety of cancers, including melanoma, chronic lymphocytic leukemia (CLL), Hodgkin lymphoma, myeloproliferative neoplasms, and glioma. We ...report the first case of splenic marginal zone lymphoma (SMZL) arising in a patient with a germline
variant: a 65-year-old male with an extensive history of cancer, including melanoma and papillary thyroid carcinoma, who presented with circulating atypical lymphocytosis. Bone marrow biopsy revealed 20% involvement by a CD5
CD10
B-cell lymphoma that was difficult to classify. During the clinical workup of his low-grade lymphoma, targeted next-generation sequencing (NGS) identified
p.I49Mfs*7 (NM_015450:c. 147delT) at a variant allele frequency (VAF) of 51%. NGS of skin fibroblasts confirmed the
variant was germline. This likely pathogenic
loss-of-function variant has only been reported once before as a germline variant in a patient with glioma and likely represents one of the most deleterious germline
variants ever linked to familial cancer. The spectrum of cancers associated with germline pathogenic
variants (i.e., autosomal dominant
tumor predisposition syndrome) should potentially be expanded to include SMZL, a disease often associated with the loss of chromosome 7q: the location of the
genetic locus (7q31.33).
Abstract
Background
Clear cell adenocarcinoma of the lower urinary tract (CCACLUT) is a rare primary malignant neoplasm with heterogenous morphology. There is a paucity of data in the literature ...regarding its immunohistochemical profile.
Methods
The immunohistochemical features (extent and intensity) of a multinational cohort of CCACLUT were evaluated with comparison between clear cell adenocarcinoma of the female genital tract (CCACFGT, tissue microarray) and nephrogenic adenoma (NA).
Results
33 CCACLUT (24 female, 9 male; mean age 59 years) were collected. CCACLUT most commonly arose from the urinary bladder (26/33, 78%), particularly from the trigone (10/33, 30.3%) followed by the urethra (8/33, 22%). All 12 NA cases were located at the urinary bladder, whereas the most common CCACFGT location was the ovary (29/56, 52%). None of the CCACLUT patients had, intestinal metaplasia, NA, or urothelial carcinoma. One patient had concurrent endometriosis of the sigmoid colon. Most frequently observed morphology in CCACLUT was papillary/tubulocystic (9/3; 27.3%), followed by papillary/tubular (6/33; 18.2%) and papillary/solid (5/33; 15.2%). GATA3 expression was significantly higher in CCACLUT (18/33, 54.5%) and NA (6/12, 50%), when compared to CCACFGT cases 6/56, 11.7%)(p = 0.001 and p = 0.022, respectively). The extent of GATA3 was significantly higher in CCACLUT group (19.2 ± 16.6%) than the other groups (9.6 ± 22.5% in NA and 2.6 ± 9% in CCACFGT group) (p = 0.001). 4/33 patients (12.1) had weak, 10/33 patients (30.3%) had moderate, and 4/33 patients (12.1%) had strong GATA3 intensity in CCACLUT group. In NA group, one patient (8.3%, 1/12) had weak, one patient (8.3%, 1/12) had moderate and 4 patients (33.3%, 4/12) had strong GATA3 intensity. Most cases (CCACLUT 29/33, 88%; NA 11/12, 92%; CCACFGT 46/56, 82.1%) had positive Napsin A expression, by which CCACLUT had significantly more cases with Napsin A expression (p = 0.034). p63 was consistently negative in all cases (30/33 (91.9%) CCACLUT; 12/12 (100%) NA; 42/56 (75%) CCACFGT. Ki67 (MIB) proliferation index was significantly higher in CCACLUT group (54.6 ± 21%) when compared to NA group (4.5 ± 2.7%) and CCACFGT group (35.5 ± 25.8%) (p = 0.001).
Conclusion
CCACLUT has consistent GATA3 expression, which may cause challenge in the diagnosis of urothelial carcinoma but can be used to distinguish CCACLUT from CCACFGT.
Epididymo-orchitis (EO) is a common urologic condition that rarely requires surgical intervention. Global testicular infarction is an exceedingly uncommon complication of EO and is thought to occur ...when severe epididymal edema compresses testicular vessels. We present a rare case of global testicular infarction secondary to EO in a 17-year-old boy. Predicting which cases of EO will progress to testicular ischemia is challenging, as no clear risk factors have been identified. Early recognition of testicular compromise requires a high degree of clinical suspicion and may provide the opportunity for testis-sparing intervention.
Urinary bladder specimens are frequently encountered in the daily practice of surgical pathologists. The spectrum of pathologic entities encountered in bladder specimens is extraordinarily broad, and ...in some instances, immunohistochemical stains are used to help characterize challenging bladder lesions. Cost-effective biomarker selection tailored to the differential diagnosis facilitates an accurate diagnosis. This comprehensive review is prepared as a reference guide for the use of immunohistochemistry to categorize primary and secondary bladder neoplasms and to evaluate metastatic cancers for possible bladder origin.