Ask about this productRelated genes to: AMACR antibody
- Gene:
- AMACR NIH gene
- Name:
- alpha-methylacyl-CoA racemase
- Previous symbol:
- -
- Synonyms:
- RACE, P504S
- Chromosome:
- 5p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-10-19
- Date modifiied:
- 2016-12-13
Related products to: AMACR antibody
Related articles to: AMACR antibody
- Fumarate hydratase-deficient renal cell carcinoma (FHd RCC) is a rare, aggressive subtype of kidney cancer associated with hereditary leiomyomatosis and renal cell carcinoma syndrome. We retrospectively analyzed 12 FHd RCC cases from Hungarian patients, assessing clinical, histopathological, immunohistochemical, and molecular features. The median age at diagnosis was 48.5 years, with a male-to-female ratio of 1.6:1. Most patients presented symptomatically and in an advanced stage; ten underwent surgery, and seven had metastatic disease at diagnosis. Tumors were unifocal, unilateral, and high-grade, displaying heterogeneous architectural patterns, often with eosinophilic cytoplasm and prominent viral inclusion-like nucleoli. FH expression was lost in all but one tumor, while aberrant nuclear and cytoplasmic 2SC positivity was observed in all cases. CK7 was consistently negative, whereas AMACR and PAX8 were positive in all tested tumors. GATA3 expression was focal in two tumors. PD-L1 positivity was detected in four tumors, including one with high tumor mutational burden. Pathogenic FH mutations were confirmed in nine cases, including three germline alterations. Systemic therapy was administered in seven patients, with variable responses. Our findings highlight the pronounced morphological heterogeneity of FHd RCC and the critical role of combined FH and 2SC immunohistochemistry for accurate diagnosis. FHd RCC should be recognized as a distinct, highly malignant renal neoplasm, warranting comprehensive histological, immunohistochemical, and genetic assessment, along with genetic counseling to identify potential hereditary background. - Source: PubMed
Publication date: 2026/06/05
Pósfai BoglárkaJakab AnnaJenei AlexDezső KatalinLászló TamásFintha AttilaMicsik TamásBödör CsabaForika GertrúdSomorácz ÁronDénes BorbálaSemjén DávidEizler KornéliaGiba NándorMelegh ZsomborEngi HelgaBassam AliTorday LászlóMaráz AnikóNagyiványi KrisztiánGéczi LajosKüronya ZsófiaBíró KrisztinaHes OndrejPivovarcikova KristynaButz HenriettPatócs AttilaSánta FanniKuthi Levente - Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) is a rare, recently recognized renal neoplasm. We present a case of a 19-year-old female with an incidentally discovered left renal mass. Computed tomography revealed a 3.2 cm well-defined enhancing lesion. The patient underwent laparoscopic partial nephrectomy. Histopathology demonstrated mixed solid and cystic growth patterns with abundant eosinophilic cytoplasm. Immunohistochemistry showed CK7(+), CA9(-), and AMACR(+), and NGS analysis excluded VHL gene mutations, consistent with ESC RCC. The patient recovered uneventfully with favorable prognosis. This case contributes to the limited literature on ESC RCC in young female patients. - Source: PubMed
Publication date: 2026/05/19
Qiu JunNi LuhuaYu LiangzhiYang Yuanxing - Papillary architecture is rare in -mutated renal epithelial neoplasms in Birt-Hogg-Dubé syndrome. We report a papillary-predominant -mutated renal epithelial neoplasm in a 79-year-old woman with known Birt-Hogg-Dubé syndrome and a pathogenic germline frameshift mutation, who presented with bilateral renal masses and underwent right partial nephrectomy. Gross examination revealed a 2.5 cm well-circumscribed yellow mass confined to the kidney (pT1a). Histologically, the tumor demonstrated predominantly papillary architecture with focal cystic change and rare nested oncocytic cells at the periphery. Fibrovascular cores were lined by oncocytic cells admixed with clear cells, the latter more prominent along the apical surface. Tumor cells showed round to oval nuclei with prominent nucleoli, focal coarse eosinophilic cytoplasmic granules, multifocal nuclear palisading, and rare multinucleated cells. The background renal parenchyma contained cysts lined by hobnail oncocytic cells with focal clear cell change. The tumor was positive for PAX8, AMACR, GPNMB, and cathepsin K, and negative for KIT, KRT7, and CA9, with diffuse weak-to-moderate TFE3 staining. The clinical history, morphology, and immunophenotype support a diagnosis of -mutated renal epithelial neoplasm with papillary features. This report highlights potential diagnostic pitfalls and the morphological heterogeneity of -mutated tumors. - Source: PubMed
Publication date: 2026/06/03
Zhao TingMachacek Miranda E - The early detection of prostate and testicular tumors remains challenging as standard diagnostic tools often lack sensitivity and produce ambiguous results. Seminal fluid is a biologically rich medium that closely reflects the state of male reproductive tissues and has therefore emerged as a promising source of non-invasive molecular biomarkers. This study aimed to critically evaluate the evidence regarding cell-free DNA, RNA, proteins and metabolites in seminal fluid, and to assess their potential for improving the early detection of male reproductive cancers. A systematic review was performed according to PRISMA guidelines. Comprehensive searches of the PubMed and Scopus databases were conducted to identify original clinical studies analyzing molecular biomarkers in seminal fluid from patients with prostate or testicular tumors. For each study, data were extracted on biomarker types, cohort characteristics, analytical methods and diagnostic performance. Forty-two eligible studies were included, covering multiple biomarker classes. Most were observational, single-center investigations classified as level 3b evidence. Across the different types of biomarkers, seminal fluid was associated with tumor-associated molecular changes. Alterations in the concentration, fragmentation and methylation patterns of cell-free DNA (e.g., GSTP1, RARβ2, LGALS3 and OCT3/4) distinguished malignant from benign conditions with sensitivities of up to 80-100%. RNA-based markers, including microRNAs, small non-coding RNAs, and tRNA fragments, showed improved performance in several studies, with multimarker models achieving areas under the curve (AUCs) of 0.85-0.93. Proteomic analyses identified high-specificity candidates such as TGM4, AMACR, PROS1 and DKK3. Metabolomic profiling further strengthened the diagnostic potential; reduced seminal citrate outperformed prostate-specific antigen (AUC 0.748 vs. 0.548), and reproducible shifts in amino acid and lipid profiles were observed in testicular tumors. However, substantial heterogeneity in study design, patient selection, and analytical platforms was observed. Risk of bias varied, and large prospective validation cohorts were lacking. Current evidence suggests that seminal fluid contains molecular signals associated with tumors that could be used for diagnosis. However, the available data are predominantly exploratory and methodologically heterogeneous. Before seminal fluid-based biomarkers can be considered for routine clinical implementation, robust prospective studies with standardized protocols are required. - Source: PubMed
Publication date: 2026/04/23
Sagitova Guzel RSlizova Anna VMorozov Andrey OFatyanova Anastasia SWarkiani Majid EbrahimiZvyagin Andrei VRzhevskiy Alexey S - To observe the effect of electroacupuncture (EA) on gastric mucosal injury and necroptosis receptor-interacting protein kinase (RIPK)1/RIPK3/mixed lineage kinase domain-like (MLKL) signaling pathway in rats with precancerous lesions of gastric cancer, so as to explore its possible mechanism underlying improvement of gastric precancerous lesions (GPL). - Source: PubMed
Jiang TingLi Guan-YingWang XinTian Zhi-WenZhang Sheng-XiongPan Hua-ShanLiu Wei