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The American Journal of Case Reports Sep 2017BACKGROUND Angiomyolipoma is a benign tumor composed of blood vessels, smooth muscle cells, and adipose tissue and has been described as belonging to the group of tumors... (Review)
Review
BACKGROUND Angiomyolipoma is a benign tumor composed of blood vessels, smooth muscle cells, and adipose tissue and has been described as belonging to the group of tumors of perivascular epithelioid cell origin (PEComa), commonly found in the kidneys and strongly associated with tuberous sclerosis. Only a few cases of extra-renal angiomyolipoma have previously been reported in the literature, most commonly in the liver. Adrenal angiomyolipoma is very rare, is usually asymptomatic, and is often found incidentally, with only 14 previously reported cases identified in the literature. CASE REPORT We report two cases of adrenal angiomyolipoma that were identified by abdominal computed tomography (CT). The first case presented in a 36-year-old man and was an oval-shaped adrenal mass, measuring 5.2×4.2×3.1 cm. The second case presented in a 61-year-old woman and was a round-shaped mass measuring 8.6×9.5×8.1 cm. Both patients underwent adrenalectomy. Histopathology and immunohistochemistry confirmed the diagnosis of benign angiomyolipoma composed of adipose tissues, blood vessels, and smooth muscle cells. CONCLUSIONS We present two rare cases of adrenal angiomyolipoma. We have reviewed the literature and identified 14 other cases of adrenal angiomyolipoma, and discuss the clinical, radiological, and pathological features of this rare tumor.
Topics: Adrenal Gland Neoplasms; Adrenalectomy; Adult; Angiomyolipoma; Female; Humans; Male; Middle Aged
PubMed: 28904331
DOI: 10.12659/ajcr.903908 -
Orphanet Journal of Rare Diseases Feb 2017Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is... (Review)
Review
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs) and for subependymal giant astrocytoma (SEGA) in both adults and children, based on data from the EXIST-1 and EXIST-2 trials. However, due to the historical predominance of everolimus in the oncology setting, some physicians who treat TSC patients may be unfamiliar with everolimus-associated adverse events (AEs) and appropriate management strategies. This article aims to serve as a resource for specialists including nephrologists, paediatricians, neurologists and geneticists who require practical guidance on the management of events such as non-infectious pneumonitis, rash, stomatitis, infections, and renal AEs. Additional consideration is given to drug interactions, hepatic impairment, fertility, and sexual maturation. Since patients with TSC receive clinical benefit from continued therapy, it is important that everolimus-related events are dealt with appropriately through strategies such as dose modification, interruption, the provision of supportive care, regular monitoring, and patient education.
Topics: Adult; Child; Everolimus; Humans; Tuberous Sclerosis
PubMed: 28202028
DOI: 10.1186/s13023-017-0581-9 -
British Journal of Clinical Pharmacology May 2016The purpose was to determine the exposure-response relationship of everolimus in patients with angiomyolipoma from the EXIST-2 trial and to analyze the correlation... (Randomized Controlled Trial)
Randomized Controlled Trial
AIMS
The purpose was to determine the exposure-response relationship of everolimus in patients with angiomyolipoma from the EXIST-2 trial and to analyze the correlation between exposure and plasma concentrations of angiogenic biomarkers in these patients.
METHODS
One hundred and eighteen patients with angiomyolipoma associated with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (sLAM) were randomly assigned 2 : 1 to receive everolimus 10 mg (n = 79) or placebo (n = 39) once daily. Blood samples for determining everolimus concentration were collected at weeks 2, 4, 12, 24 and 48 during double-blind treatment. Plasma samples for biomarker analysis were collected at baseline and weeks 4, 12, 24, 36, 48 and at the end of treatment. Concentrations of eight angiogenic biomarkers associated with tumour growth were determined by enzyme-linked immunosorbent assay (ELISA).
RESULTS
Peak and trough concentrations of everolimus in blood remained stable over time and similar to those reported in other indications. Substantial pharmacodynamic effects were observed in the everolimus, but not placebo, arm for three biomarkers: After 24 weeks of treatment, reduction of vascular endothelial growth factor D (VEGF-D) and collagen type IV (COL-IV) (mean fold-changes with 95% confidence intervals [CI] were 0.36 [0.33, 0.40], and 0.54 [0.51, 0.57], respectively, P < 0.001 for both), along with increased VEGF-A (mean fold-change of 1.59 [1.39, 1.80], P < 0.001), were seen. Furthermore, baseline VEGF-D and COL-IV levels were associated with angiomyolipoma size at baseline and with angiomyolipoma response to everolimus.
CONCLUSIONS
These findings suggest that plasma angiogenic markers may provide an objective measure of patient response to everolimus.
Topics: Adult; Angiomyolipoma; Antineoplastic Agents; Collagen Type IV; Dose-Response Relationship, Drug; Double-Blind Method; Enzyme-Linked Immunosorbent Assay; Everolimus; Humans; Kidney Neoplasms; Lymphangioleiomyomatosis; Tuberous Sclerosis; Vascular Endothelial Growth Factor A; Vascular Endothelial Growth Factor D
PubMed: 26580489
DOI: 10.1111/bcp.12834 -
World Journal of Gastroenterology May 2021First reported in 1976, hepatic angiomyolipoma (HAML) is a rare mesenchymal liver tumor occurring mostly in middle-aged women. Diagnosis of the liver mass is often... (Review)
Review
First reported in 1976, hepatic angiomyolipoma (HAML) is a rare mesenchymal liver tumor occurring mostly in middle-aged women. Diagnosis of the liver mass is often incidental on abdominal imaging due to the frequent absence of specific symptoms. Nearly 10% of HAMLs are associated with tuberous sclerosis complex. HAML contains variable proportions of blood vessels, smooth muscle cells and adipose tissue, which renders radiological diagnosis hazardous. Cells express positivity for HMB-45 and actin, thus these tumors are integrated into the group of perivascular epithelioid cell tumors. Typically, a HAML appears on magnetic resonance imaging (or computed tomography scan) as a hypervascular solid tumor with fatty areas and with washout, and can easily be misdiagnosed as other liver tumors, particularly hepatocellular carcinoma. The therapeutic strategy is not clearly defined, but surgical resection is indicated for symptomatic patients, for tumors showing an aggressive pattern (, changes in size on imaging or high proliferation activity and atypical epithelioid pattern on liver biopsy), for large (> 5 cm) biopsy-proven HAML, and if doubts remain on imaging or histology. Conservative management may be justified in other conditions, since most cases follow a benign clinical course. In summary, the correct diagnosis of HAML is challenging on imaging and relies mainly on pathological findings.
Topics: Angiomyolipoma; Carcinoma, Hepatocellular; Female; Humans; Liver Neoplasms; Middle Aged; Tomography, X-Ray Computed
PubMed: 34040323
DOI: 10.3748/wjg.v27.i19.2299 -
PloS One 2018Improving the knowledge of angiomyolipoma physiopathology might help in refining its pharmacological treatment. We investigated if angiomyolipoma cells have migratory...
BACKGROUND
Improving the knowledge of angiomyolipoma physiopathology might help in refining its pharmacological treatment. We investigated if angiomyolipoma cells have migratory properties, how their growth and motility can be influenced by the hormonal milieu, and if this can be related to a specific gender.
METHODS
Primary cells were isolated from angiomyolipomas surgically resected for therapeutical reasons in a female and in a male patient. The genetic control demonstrated no TSC2 deletion. Bi- (wound healing) and three-dimensional (transwell assay) migration were analyzed in vitro in basal conditions and under the influence of 17- β-estradiol and SDF-1α.
RESULTS
Treatment up to 72 hours with 17-β-estradiol (0.1-100 nM), tamoxifen (0.2-20 μM) or with both, does not modify angiomyolipoma cells proliferation. On the other hand, SDF-1α and 17-β-estradiol treatment induce a significant motility increase (both bi- and three-dimensional) which becomes evident already after 2 hours of incubation. Angiomyolipoma cells express mRNA coding for SDF-1α and 17-β-estradiol receptors and secrete both the metalloproteases principally involved in malignant phenotype acquisition, i.e. MMP-2 and MMP-9.
CONCLUSION
Angiomyolipoma cells behave similarly, despite their different source. Primary angiomyolipoma cells migrate in response to hormonal milieu and soluble factors, and produce active metalloproteases, both aspects being consistent with the theory claiming they can migrate to the lungs (and/or other organs) and colonizing them. No main feature, among the aspects we analyzed, seems to be referable to the gender of origin.
Topics: Angiomyolipoma; Cell Movement; Cell Proliferation; Chemokine CXCL12; Estrogens; Female; Gene Expression Regulation, Neoplastic; Humans; Kidney; Male; Matrix Metalloproteinase 2; Matrix Metalloproteinase 9; Primary Cell Culture; Sequence Analysis, DNA; Wound Healing
PubMed: 29920561
DOI: 10.1371/journal.pone.0199371 -
Orphanet Journal of Rare Diseases Jul 2021Birt-Hogg-Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin...
BACKGROUND
Birt-Hogg-Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS.
MATERIALS AND METHODS
The first case of BHDS in Poland was diagnosed in 2016. Since then, 15 cases from 10 families have been identified. Thirteen patients were confirmed via direct FLCN sequencing, and two according to their characteristic clinical and radiological presentations.
RESULTS
BHDS was diagnosed in 15 cases (13 women and 2 men) from 10 families. The mean ages at the time of first pneumothorax and diagnosis were 38.4 ± 13.9 and 47.7 ± 13 years, respectively. Five patients (33%) were ex-smokers (2.1 ± 1.37 packyears), and 10 (67%) had never smoked cigarettes. Twelve patients (83%) had a history of recurrent symptomatic pneumothorax. Three patients had small, asymptomatic pneumothoraces, which were only detected upon computed tomography examination. All patients had multiple bilateral pulmonary cysts, distributed predominantly in the lower and middle, peripheral, and subpleural regions of the lungs. Generally, patients exhibited preserved lung function. Skin lesions were seen in four patients (27%), one patient had renal angiomyolipoma, and one had bilateral renal cancer. Different mutations of the FLCN gene were identified (mainly in exon 6), with two novel heterozygous variants: c.490delA p.(Arg164GlyTer13) and c.40delC p.(His14ThrsfTer41).
CONCLUSIONS
All analysed patients with BHDS presented with lung lesions and with less frequent skin and renal lesions than previously reported in other populations. In addition, more frequent mutations located in exon 6 were detected, and two novel FLCN gene mutations were identified.
Topics: Angiomyolipoma; Birt-Hogg-Dube Syndrome; Estrone; Female; Humans; Kidney Neoplasms; Male; Mutation; Poland; Proto-Oncogene Proteins; Tumor Suppressor Proteins
PubMed: 34229741
DOI: 10.1186/s13023-021-01931-0 -
Clinical Case Reports Jan 2022Hepatic epithelioid angiomyolipomas are uncommon mesenchymal neoplasms. They are difficult to diagnose by imaging, especially when the fatty component is scant or...
Hepatic epithelioid angiomyolipomas are uncommon mesenchymal neoplasms. They are difficult to diagnose by imaging, especially when the fatty component is scant or absent. The gold standard for the diagnosis is histologic examination coupled with an immunohistochemical study. Positive HMB45 immunostaining of the myoid cells is a major diagnostic feature.
PubMed: 35127094
DOI: 10.1002/ccr3.5327 -
Journal of Ultrasound Jun 2018The purpose of this study was to evaluate the rate of nondiagnostic ultrasound-guided renal mass biopsies (RMBs) at our institution and to determine what patient,...
PURPOSE
The purpose of this study was to evaluate the rate of nondiagnostic ultrasound-guided renal mass biopsies (RMBs) at our institution and to determine what patient, procedural, and focal renal mass (FRM) factors were associated with nondiagnostic ultrasound-guided RMBs.
METHODS
Eighty-two ultrasound-guided renal mass biopsies performed between January 2014 and October 2016 were included in our study. Biopsy outcomes (diagnostic vs. nondiagnostic) and patient, procedural, and FRM characteristics were retrospectively reviewed and recorded. Univariate statistical analyses were performed to identify biopsy characteristics that were indicative of nondiagnostic biopsy.
RESULTS
Ultrasound-guided RMBs were diagnostic in 70 out of 82 cases (85%) and non-diagnostic in 12 cases (15%). Among the diagnostic biopsies, 54 (77%) were malignant cases, 94% of which were renal cell carcinoma (RCC). Of the 12 nondiagnostic cases, the final diagnosis was RCC in 4 cases and angiomyolipoma in one case; seven of the nondiagnostic cases were lost to follow-up. A weak association (p = 0.04) was found between the number of needle passes and the biopsy outcome. None of the remaining collected RMB characteristics showed a significant correlation with a diagnostic or nondiagnostic RMB. Six patients (7%) experienced complications.
CONCLUSION
Ultrasound-guided renal mass biopsy is a safe and effective method for the diagnosis of renal masses with a low rate of nondiagnostic outcomes. A nondiagnostic biopsy should not be treated as a surrogate for a diagnosis since a significant number of patients with nondiagnostic biopsies have subsequently been shown to have renal malignancies. Repeat biopsy should be considered in such cases.
Topics: Angiomyolipoma; Carcinoma, Renal Cell; Humans; Image-Guided Biopsy; Kidney; Kidney Neoplasms; Postoperative Complications; Retrospective Studies; Ultrasonography, Interventional
PubMed: 29696566
DOI: 10.1007/s40477-018-0299-0 -
Pathology Oncology Research : POR 2022The renal angiomyolipoma (AML) is a benign tumor characteristically composed of fat, smooth muscle tissue, and vessels. We collected AMLs from our nephrectomy database,...
The renal angiomyolipoma (AML) is a benign tumor characteristically composed of fat, smooth muscle tissue, and vessels. We collected AMLs from our nephrectomy database, reclassified them according to their histological appearance, recorded the demographic, clinical, and pathological parameters, and compared them with oncocytoma (RO) and renal cell carcinoma (RCC). Immunohistochemistry was ordered in 41 cases. In 2224 nephrectomies, we found 52 AMLs with a 53 mm median size. The mean age was 52.76. Forty-eight tumors were sporadic, while four were hereditary. The revision resulted in 31 classic, 13 leiomyoma-like, five lipoma-like, two epithelioid, and one AML with epithelial cysts. SMA was diffusely positive, except for the epithelioid type, while MelanA harbored stronger expression than HMB45. AML was more frequent in females and appeared ten and 7 years earlier than RO and RCC, respectively. The follow-up time was 7.42 years, and neither tumor-related death nor relapse occurred. AML is rare in nephrectomies and develops primarily in females in their 50s with an average size of 50-60 mm at the surgery. The histological appearance in order of frequency is classic, leiomyoma-like, lipoma-like, epithelioid, and cystic. The MelanA, HMB45, and SMA immunohistochemistry can support the light-microscopic findings.
Topics: Female; Humans; Middle Aged; Kidney Neoplasms; Angiomyolipoma; Carcinoma, Renal Cell; MART-1 Antigen; Hamartoma; Lipoma; Antibodies, Monoclonal; Kidney; Leiomyoma
PubMed: 36699622
DOI: 10.3389/pore.2022.1610831 -
PloS One 2023Differentiation of fat-poor angiomyolipoma (fp-AMLs) from renal cell carcinoma (RCC) is often not possible from just visual interpretation of conventional... (Meta-Analysis)
Meta-Analysis
PURPOSE
Differentiation of fat-poor angiomyolipoma (fp-AMLs) from renal cell carcinoma (RCC) is often not possible from just visual interpretation of conventional cross-sectional imaging, typically requiring biopsy or surgery for diagnostic confirmation. However, radiomics has the potential to characterize renal masses without the need for invasive procedures. Here, we conducted a systematic review on the accuracy of CT radiomics in distinguishing fp-AMLs from RCCs.
METHODS
We conducted a search using PubMed/MEDLINE, Google Scholar, Cochrane Library, Embase, and Web of Science for studies published from January 2011-2022 that utilized CT radiomics to discriminate between fp-AMLs and RCCs. A random-effects model was applied for the meta-analysis according to the heterogeneity level. Furthermore, subgroup analyses (group 1: RCCs vs. fp-AML, and group 2: ccRCC vs. fp-AML), and quality assessment were also conducted to explore the possible effect of interstudy differences. To evaluate CT radiomics performance, the pooled sensitivity, specificity, and diagnostic odds ratio (DOR) were assessed. This study is registered with PROSPERO (CRD42022311034).
RESULTS
Our literature search identified 10 studies with 1456 lesions in 1437 patients. Pooled sensitivity was 0.779 [95% CI: 0.562-0.907] and 0.817 [95% CI: 0.663-0.910] for groups 1 and 2, respectively. Pooled specificity was 0.933 [95% CI: 0.814-0.978]and 0.926 [95% CI: 0.854-0.964] for groups 1 and 2, respectively. Also, our findings showed higher sensitivity and specificity of 0.858 [95% CI: 0.742-0.927] and 0.886 [95% CI: 0.819-0.930] for detecting ccRCC from fp-AML in the unenhanced phase of CT scan as compared to the corticomedullary and nephrogenic phases of CT scan.
CONCLUSION
This study suggested that radiomic features derived from CT has high sensitivity and specificity in differentiating RCCs vs. fp-AML, particularly in detecting ccRCCs vs. fp-AML. Also, an unenhanced CT scan showed the highest specificity and sensitivity as compared to contrast CT scan phases. Differentiating between fp-AML and RCC often is not possible without biopsy or surgery; radiomics has the potential to obviate these invasive procedures due to its high diagnostic accuracy.
Topics: Humans; Carcinoma, Renal Cell; Angiomyolipoma; Retrospective Studies; Diagnosis, Differential; Kidney Neoplasms; Tomography, X-Ray Computed; Sensitivity and Specificity; Leukemia, Myeloid, Acute
PubMed: 37498830
DOI: 10.1371/journal.pone.0287299