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Research on mevalonate kinase deficiency has revealed that it may lead to the development of renal angiomyolipomas (RAMLs). Thus, it was suspected that geranylgeranyl pyrophosphate synthase (GGPPS), a key enzyme in the mevalonate pathway, may be involved in the development of RAMLs. In the present study, the expression of GGPPS in RAMLs and renal epithelioid angiomyolipomas (REAs) was assessed, and paraffin embedded specimens from 60 patients, including 9 cases with REA and 51 cases with RAML, were examined. Immunoreactivity was evaluated semi-quantitatively according to the intensity of staining and the percentage of positively stained cells. The results indicated that GGPPS was predominantly present in the cytoplasm, and REA tissues exhibited higher expression of GGPPS in the cytoplasm compared with RAML tissues. It was also identified that GGPPS was upregulated in TSC2-null cells, and inhibition of GGPPS could induce apoptosis of TSC2-null cells by autophagy. In conclusion, the increased expression of GGPPS in RAMLs and REAs indicated that mevalonate pathways may be involved in disease progression. GGPPS may serve as a potential therapeutic target and the current results may provide a novel therapeutic strategy for RAML and lymphangioleiomyomatosis.
Angiomyolipoma (AML) is a rare mesenchymal neoplasm of the tumor, composed of a varying heterogeneous mixture of three tissue components: blood vessels, smooth muscle and adipose cells. Hepatic AML may demonstrate a marked histological diversity. We herein present one case of hepatic AML exhibiting prominent inflammatory cells in the background, which happened in a 61-year-old Chinese female patient, without signs of tuberous sclerosis. Histologically, the striking feature was the infiltration of numerous inflammatory cells in the background, including small lymphocytes, plasma cells, and eosnophils. The tumor cells were spindled and histiocytoid in shape, with slightly eosinophilic cytoplasm, and arranged along the vessels or scattered among the inflammatory background. Sinusoid structure was obviously seen in the tumor. Mature adipocytes and thick-walled blood vessels were focally observed at the boundaries between the tumor and surrounding liver tissues. The tumor cells were positive immunostaining for HMB-45, Melan-A, and smooth muscle actin. The inflammatory AML should be distinguished from other tumors with inflammatory background such as inflammatory myofibroblastic tumor and follicular dendritic cell tumor and deserves wider recognition for its occurrence as a primary hepatic tumor. Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1828633072762370.
Angiomyolipoma is a rare neoplasm of mesenchymal origin derived from perivascular epithelioid cells. Due to rarity, hepatic angiomyolipoma (HAML) has been often misdiagnosed as hepatocellular carcinoma (HCC) or other hypervascular liver tumors based on imaging studies. This study investigated the clinicopathological correlation and post-resection outcomes of HAML.
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that occurs between 1 in 6,000 and 1 in 10,000 live births. Additionally, renal angiomyolipoma is the most common form of renal disease in patients affected by TSC. Although a genetic mutation analysis of TSC is not rare, the correlation between the TSC gene mutation and renal angiomyolipoma phenotype is poorly understood. This study aims to analyze the mutation sites in 261 types of selected TSC patients. The results reveal that: (1) female patients develop more renal angiomyolipoma than male patients [p = 0.008, OR = 2.474, 95%CI (1.258-4.864)]; (2). The missense mutation of TSC1 led to a higher risk of renal angiomyolipoma [p < 0.01, OR = 15, 95%CI (2.859-78.691)], and in contrast, showed a reduced risk in patients with frameshift mutation [p = 0.03, OR = 0.252, 95%CI (0.07-0.912)]; (3). Patients with TSC2 mutations in the transcription activation domain 1 coding genes, had increased renal angiomyolipoma [p = 0.019, OR = 3.519, 95%CI (1.226-10.101)]. Therefore, our genotype-phenotype correlation study might shed light on the early monitoring and evaluation of renal angiomyolipoma in TSC patients.
Renal angiomyolipoma (AML) is a common benign tumor of the kidney. The main complication of AML is retroperitoneal hemorrhage caused by AML rupture, which can be severe and life threatening. The risk of AML rupture used to be determined by tumor size. However, these criteria have been challenged by series of clinical studies and case reports, suggesting prediction AML rupture based on tumor size is not always reliable.
Renal angiomyolipoma are part of the PEComa family of neoplasms, and occur both in association with Tuberous Sclerosis Complex (TSC) and independent of that disorder. Previous studies on the molecular genetic alterations that occur in angiomyolipoma are very limited. We evaluated 9 angiomyolipoma for which frozen tissue was available from a consecutive surgical series. Seven of 8 samples subjected to RT-PCR-cDNA sequencing showed mutations in TSC2; none showed mutations in TSC1 or RHEB. Six of the seven mutations were deletions. We searched for 983 activating and inactivating mutations in 115 genes, and found none in these tumors. Similarly analysis for genomic regions of loss or gain, assessed by Affymetrix SNP6.0 analysis, showed no abnormalities. Loss of heterozygosity in the TSC2 region was commonly seen, except in patients with low frequency TSC2 mutations. We conclude that sporadic renal angiomyolipoma usually have mutations in TSC2, but not TSC1 or RHEB, and have no other common genomic events, among those we searched for. However, chromosomal translocations and gene fusion events were not assessed here. TSC2 inactivation by mutation is a consistent and likely necessary genetic event in the pathogenesis of most angiomyolipoma.
Renal angiomyolipomas (AML) contain an admixture of clonal tumour cells with features of several different mesenchymal lineages, implying the existence of an unidentified AML neoplastic stem cell. Biallelic inactivation of TSC2 or TSC1 is believed to represent the driving event in these tumours. Here we show that TSC2 knockdown transforms senescence-resistant cultured mouse and human renal epithelial cells into neoplastic stem cells that serially propagate renal AML-like tumours in mice. mTOR inhibitory therapy of mouse AML allografts mimics the clinical responses of human renal AMLs. Deletion of Tsc1 in mouse renal epithelia causes differentiation in vivo into cells expressing characteristic AML markers. Human renal AML and a renal AML cell line express proximal tubule markers. We describe the first mouse models of renal AML and provide evidence that these mesenchymal tumours originate from renal proximal tubule epithelial cells, uncovering an unexpected pathological differentiation plasticity of the proximal tubule.
Background: We conduct a study in developing and validating two radiomics-based models to preoperatively distinguish hepatic epithelioid angiomyolipoma (HEAML) from hepatic carcinoma (HCC) as well as focal nodular hyperplasia (FNH). Methods: Totally, preoperative contrast-enhanced computed tomography (CT) data of 170 patients and preoperative contrast-enhanced magnetic resonance imaging (MRI) data of 137 patients were enrolled in this study. Quantitative texture features and wavelet features were extracted from the regions of interest (ROIs) of each patient imaging data. Then two radiomics signatures were constructed based on CT and MRI radiomics features, respectively, using the random forest (RF) algorithm. By integrating radiomics signatures with clinical characteristics, two radiomics-based fusion models were established through multivariate linear regression and 10-fold cross-validation. Finally, two diagnostic nomograms were built to facilitate the clinical application of the fusion models. Results: The radiomics signatures based on the RF algorithm achieved the optimal predictive performance in both CT and MRI data. The area under the receiver operating characteristic curves (AUCs) reached 0.996, 0.879, 0.999, and 0.925 for the training as well as test cohort from CT and MRI data, respectively. Then, two fusion models simultaneously integrated clinical characteristics achieved average AUCs of 0.966 (CT data) and 0.971 (MRI data) with 10-fold cross-validation. Through decision curve analysis, the fusion models were proved to be excellent models to distinguish HEAML from HCC and FNH in comparison between the clinical models and radiomics signatures. Conclusions: Two radiomics-based models derived from CT and MRI images, respectively, performed well in distinguishing HEAML from HCC and FNH and might be potential diagnostic tools to formulate individualized treatment strategies.
Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the FLCN gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the TSC1 or TSC2 tumor suppressor genes. Previous case reports of renal AML in patients with BHD have speculated on the molecular and clinical overlap of these two syndromes as a result of described involvement of the gene products in the mTOR pathway. Our recent work provided a new molecular link between these two syndromes by identifying FLCN and Tsc2 as clients of the molecular chaperone Hsp90. Folliculin interacting proteins FNIP1/2 and Tsc1 are important for FLCN and Tsc2 stability as new Hsp90 co-chaperones. Here we present a case of sporadic AML as a result of somatic Tsc1/2 loss in a patient with BHD. We further demonstrate that FNIP1 and Tsc1 are capable of compensating for each other in the chaperoning of mutated FLCN tumor suppressor. Our findings demonstrate interconnectivity and compensatory mechanisms between the BHD and TSC pathways.
Renal angiomyolipoma (AML) is the most frequent mesenchymal tumor of the kidney. Although there is a rare possibility of malignant transformation of AML, this risk has not been studied in immunosuppressed patients. The safety of donors with AML and their kidney transplant recipients has not been well established.
Cancer treatment can cause various long-term side effects, including those that impact ultrasound findings. During follow-up of childhood cancer survivors (CCSs), we often detected sporadic renal angiomyolipomas without histological confirmation (SAMLs), which is why we initiated this study. We compared the occurrence of SAML in CCSs to the previously reported data from a non-cancer population and correlated SAML with cancer treatment-related factors.
Purpose: Wunderlich syndrome (WS) with hypovolemic shock secondary to ruptured renal angiomyolipoma (rAML) represents an urgent condition. Hence, we reported our experience with transcatheter arterial embolization (TAE) using different embolic materials under this condition. Methods: This retrospective study consisted of 22 patients. Embolic materials including particles, microcoils, and liquid embolic agents were selectively used based on the decisions of interventional radiologists. Technical success was defined as the complete occlusion of bleeding vessels on the final renal angiogram. Clinical success was defined as the absence of re-hemorrhage needed for repeat endovascular or surgery treatment after TAE. Results: The articulated materials were used when WS presented without aneurysms; a combination of particulate materials and microcoils or Glubran 2 alone were used for WS with aneurysms. The technical success based on 24 episodes of TAEs in 22 patients was 100% (24 of 24). Repeat TAE was achieved in two patients with hemorrhages re-occurring two days after the initial embolization with microcoils alone. The clinical success was 90.9% (20 of 22). No nontarget embolization or embolization-related complications occurred during the TAE procedure. Of the patients, 27.3% (6 of 22) experienced minor complications of post-embolization syndrome (PES). During a median follow-up time of 34 months, no recurrent hemorrhage that required repeat endovascular or surgical treatment for hemostasis occurred. Conclusion: Urgent TAE with the selective use of different embolic materials is an effective alternative to control WS with hypovolemic shock secondary to ruptured rAML. The condition of presenting with or without aneurysms may determine the embolic materials employed.
Renal angiomyolipoma (AML) with the regional lymph node (LN) involved leads to a question of metastasis versus multicentric origin when their histology are similar. As the genomic instability is a common feature of cancer, we hypothesized that independently arising neoplasms in an individual patient would exhibit measurable genomic variation, facilitating the discrimination of tumor lineage and relatedness. Our study enrolled 12 patients who were diagnosed with nodal-involved renal AML at West China Hospital. Genomic DNA from kidney and lymph node lesion from individuals was analyzed through PCR-based analysis which using six microsatellite markers to identify discordant allelic variation. The results showed all 12 patients underwent surgical treatment and none suffered local recurrence or distant metastasis during the follow-up. Ten patients of the included cases showed a consistent trend that all corresponding to six microsatellite markers were detected in DNA from renal AMLs but were reduced or not observed in DNA from the paired LN. With this technique, a possible lineage relationship cannot be excluded between renal AMLs and LN. Thus when enlarged LN were found in images, active surveillance should be taken into consider; if enlarged LN were found intraoperatively, LN resection might be necessary to demonstrate their pathological nature.
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the pathogenesis of TSC-related renal angiomyolipoma (TSC-RAML). circRNAs were known as important regulators of miRNA, but little is known about the circRNAs in TSC-RAMLs.
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