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
- To study the clinicopathological features, immunophenotype, diagnosis, and prognosis of TSC/mTOR mutation-associated renal cell carcinoma with leiomyomatous stroma (M/TSC-RCC-LMS). Nine cases of molecularly confirmed M/TSC-RCC-LMS were collected at the Affiliated Hospital of Qingdao University (7 cases) and No. 971 Hospital of the People's Liberation Army, Qingdao, China (2 cases) between December 2011 and August 2024. Histological evaluation, immunohistochemical staining, and molecular analysis were performed, along with literature review. Among the 9 patients, 1 was male and 8 were female, with their ages 48(35,55) years. Eight cases were detected during routine physical examinations, while 1 case presented with painless gross hematuria. All 9 cases were located within the renal parenchyma, presenting nodular masses with tumor diameters 2.0(1.4,2/7) cm. The lesions were well-circumscribed. The tumors were solid, grayish-white, grayish-yellow or grayish-red in color, and soft in consistency, while one case showed cystic-solid characteristics. All 9 cases exhibited thick fibromuscular pseudocapsules. In 8 cases, smooth muscle components within the capsule were observed extending into the tumor, dividing the neoplastic tissue into nodular and clustered patterns. The tumor cells were primarily arranged in tortuous, elongated branching tubular structures, with focal areas showing small amounts of delicate papillary structures containing fibrovascular cores. They also had abundant cytoplasm that was pale-staining or mildly eosinophilic, occasionally clear. The nuclei were round or irregular in shape, with some showing conspicuous nucleoli. All the 9 cases showed patchy to diffusely strong expression of CK7 (70%-100%). Carbonic anhydrase Ⅸ (CAⅨ, 6/9) and CD10 (membranous positivity, 8/9) demonstrated variable extent and intensity of expression. Glycoprotein nonmetastatic melanoma protein B (GPNMB) showed diffusely moderate to strong positivity in 7 of the 9 cases. The 9 cases were all negative for α-methylacyl-CoA racemase (AMACR), TFE3, TFEB, TCEB1, HMB45, and Melan A, with Ki-67 proliferative index ranging from 1% to 10%. Whole exome sequencing revealed mTOR gene mutations in 5 cases, concurrent TSC2 and mTOR mutations in 1 case, a TSC2 mutation in 1 case, and germline TSC1 mutations in 2 cases. Follow-up of the cases ranged from 6 to 159 months. All patients were alive at the end of the follow-up, with no recurrence or metastasis. M/TSC-RCC-LMS exhibits unique morphological and immunophenotypic characteristics. The tumor cells exhibit abundant pale or mildly eosinophilic cytoplasm, forming elongated, tortuous branching tubules accompanied by stromal smooth muscle components. These are typically morphological features of this renal cell carcinoma subtype. The contribute to the diagnosis and differential diagnosis of the tumor diffusely strong positivity of CK7 and the positivity of GPNMB. This type of renal cell carcinoma often demonstrates indolent biological behaviors with favorable prognosis and is expected to be newly classified as an independent subtype of renal cell carcinoma. - Source: PubMed
Han M HChu JWang YGuo Z HLiu YYu W JLi Y JZhang WJiang Y X - The Extracellular Vesicles Gene-based Prostate Score (EGPS), powered by DeepSeek, is an artificial intelligence (AI) diagnostic tool that enhances the detection of clinically significant prostate cancer (csPCa) using urinary EV-derived gene expression, without requiring digital rectal examination (DRE). To address overdiagnosis resulting from the limited specificity of prostate-specific antigen (PSA) and reduce unnecessary biopsies, this study evaluated the clinical utility and generalizability of EGPS in men undergoing initial biopsy with PSA levels ranging from 0 to 15 ng/mL. A total of 645 patients were retrospectively enrolled: 586 from three centres were divided into training (70%) and internal validation (30%) cohorts, and 59 from two centres served as the external validation cohort. EVs were isolated using the EXODUS platform, and gene expression was measured by RT-qPCR. Ten machine learning algorithms were evaluated for constructing the EGPS model with selected genes. Diagnostic efficacy was assessed by ROC analysis, DeLong tests, and decision curve analysis. An AI diagnostic system using DeepSeek was also developed. The EGPS model, incorporating AMACR, HOXB13, and PSGR, achieved AUCs of 0.838, 0.825, and 0.811 in the training, internal validation, and external validation cohorts, respectively, outperforming PSA. At a cut-off value of 0.22, the model demonstrated sensitivity above 95%, with a missed diagnosis rate of 3.81% in the training cohort and 0% in the validation cohorts. The model reduced unnecessary biopsies by 79 (23.37%), 27 (18.62%) and 9 (15.25%) cases across the three cohorts, thereby lowering biopsy-related risks. A DeepSeek-powered AI diagnostic system integrating EGPS was developed to support csPCa diagnosis and minimize unnecessary biopsies. EGPS, derived from multicentre Chinese cohorts, enables accurate, DRE-free, non-invasive prediction of csPCa in men with PSA levels of 0-15 ng/mL. When integrated into an AI system, EGPS supports early screening and personalized clinical decision-making by reducing unnecessary biopsies. - Source: PubMed
Jiang ShaoqinYang ChunguangHuang ZhangchengGuo ZebangLu FeitingNian XinwenChen ZhenlinLuo PengweiJiang JiaweiGao XuLi MengqiangLiu Fei - This case report concerns a 68-year-old man who presented with enlarging pulmonary nodules 24 years after undergoing a right radical nephrectomy for renal cell carcinoma (RCC). Given the long disease-free interval and the characteristic late recurrence pattern of RCC, pulmonary metastasis of renal origin was initially suspected. Considering the potential bleeding risk associated with the hypervascular nature of metastatic RCC, video-assisted thoracoscopic surgery (VATS) was performed for a definitive diagnosis. Histopathological analysis revealed a cribriform architecture, and immunohistochemical staining was positive for prostrate-specific antigen (PSA), NKX3.1, and alpha-methylacyl-CoA racemase (AMACR), leading to a diagnosis of metastatic prostate adenocarcinoma rather than a recurrence of RCC. Subsequent evaluation identified a primary prostate cancer (Gleason score 8, cT2cN0M1), and the patient achieved a favorable response with androgen deprivation therapy. This case highlights the pitfall of "diagnostic anchoring" to a previous malignancy and emphasizes that new pulmonary lesions, even decades after an initial cancer diagnosis, necessitate histological confirmation to differentiate between recurrence and a second primary malignancy. Video-assisted thoracoscopic surgery (VATS) remains a safe and effective diagnostic approach in such clinically ambiguous scenarios. - Source: PubMed
Publication date: 2026/02/19
Tsuiki SomaOki TomonariIizuka ShuheiOtsuki YoshiroNakamura Toru - Clear cell papillary cystadenomas of the epididymis (CCPCE) are rare epithelial neoplasms originating from the efferent ductules and can be sporadic or associated with von Hippel-Lindau (VHL) syndrome. Herein, in this multi-institutional study we performed a comprehensive morphologic, immunohistochemical, and molecular evaluation of 14 CCPCE, the largest series reported to date. Morphologic features recorded included architecture (cystic, tubular/papillary, nested/solid), cytoplasm (cleared, eosinophilic), World Health Organization (WHO) nuclear grade (including reverse-apical pattern), and presence of "chicken-wire" vascular pattern. The immunohistochemical stains performed included PAX8, CAIX, CD10, KRT7, AMACR, HMWK (34betaE12 or CK5/6), GATA3, and SOX17. Next generation sequencing was performed on 4 CCPCE. Patient ages ranged from 16 to 75 years (mean= 37.4 years) and included 6 epididymectomies (43%) and 8 radical orchiectomies (57%) of nearly equal laterality (right= 8). Tumor sizes ranged from 0.4 to 15 cm (mean= 3.3 cm). All tumors showed positivity for CA9 (including areas of cup-like staining), KRT7, PAX8, & HMWK, while being largely negative for RCC, SOX17 & GATA3. Molecular analysis revealed 1 CCPCE with VHL mutation (in a patient with known VHL syndrome) and no reportable abnormalities in the other 3 CCPCE. While CCPCE can be morphologically indistinguishable from CCPRCT and share PAX8+/KRT7+/CAIX+ immunoreactivity, typically negative staining for RCC/GATA3 coupled with the generally low stage and good outcome for CCPRCT may favor CCPCE in challenging scenarios. Except for VHL mutations in a syndromic setting, CCPCE lacks other molecular alterations of CCRCC (e.g., SETD2, PBRM1, BAP1), although further confirmatory studies are needed. - Source: PubMed
Publication date: 2026/03/06
Mubeen AyshaMorrison Casey EPacheco RichardChan EmilyAcosta Andres MartinPanizo AngelWilliamson Sean RNova-Camacho Luiz MSangoi Ankur R - Due to its heterogeneous morphology and its rarity, anaplastic lymphoma kinase gene-rearranged renal cell carcinoma ( ALK RCC) is a diagnostically challenging entity, often leading to labelling these tumors as RCC, not otherwise classified. This may have clinical and managerial implications, given that patients with ALK oncogene rearrangement may benefit from ALK -inhibitors. Therefore, we attempted to elucidate the clinicopathologic and immunophenotypical characteristics of ALK RCC in a large international cohort. Sixteen multi-institutional tumors were included in the study. Clinical, macroscopic, microscopic, immunohistochemical (IHC), molecular (DNA and RNA sequencing, FISH) and follow-up data were evaluated. There were 9 male and 7 female patients with tumor size ranging from 2 to 12.2 cm (mean=7.1 cm). All tumors had solid, tan-white with focal cystic changes and gelatinous appearance. Cystic changes and necrosis were seen in 7 and 6 tumors, respectively. Microscopically, a heterogeneous growth pattern was observed including solid (12), tubular (7), papillary (5), tubulocystic (2), pleomorphic epithelioid cells (6), sarcomatoid (2), rhabdoid (4), and intranuclear pseudoinclusions. All tumors were ALK-positive, coexpressing PAX8, KRT7, SDH, FH, and variably CD10, Vimentin, and AMACR. Molecular analysis through next-generation sequencing (NGS) was performed on 14/16 tumors. EML4::ALK (n=5) was the most common gene fusion observed; others included TPM1::ALK (n=4) , TPM3::ALK (n=2), SLIT1::ALK (n=2)and VCL::ALK (n=1). Despite focal TFE3 immunoreactivity in 4/13 cases, the absence of TFE3 gene rearrangement by molecular analysis excludes TFE3 - rearranged RCC as a differential diagnosis. Our study further expands the clinicopathologic, morphologic, and molecular genetic spectrum of ALK -RCC. ALK -RCC can be morphologically heterogeneous and mimic other well-established entities posing a misdiagnosis if appropriate IHC and/or molecular studies are not performed. Accurate diagnosis is of clinical significance as patients with this neoplasm may potentially benefit from ALK- inhibitors, particularly in a metastatic setting. As TFE3 immunoreactivity is not uncommon in ALK -RCC, documentation of ALK gene rearrangement is critical, either by surrogate IHC staining or cytogenetic/molecular analysis is essential. - Source: PubMed
Publication date: 2026/03/06
Lobo AnandiAkgul MahmutSangoi Ankur RAl-Obaidy Khaleel IAcosta Andres MKandukuri Shivani RKapoor RahulMishra Sourav KJha ShilpyKaushal SeemaSatturwar SwatiOsunkoya Adeboye OParwani Anil VDhillon JasremanJain EktaWilliamson Sean RShah Rajal BMohanty Sambit KCheng Liang