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Medicina (Kaunas, Lithuania) Jan 2021The detection of a renal mass is a relatively frequent occurrence in the daily practice of any Radiology Department. The diagnostic approaches depend on whether the... (Review)
Review
The detection of a renal mass is a relatively frequent occurrence in the daily practice of any Radiology Department. The diagnostic approaches depend on whether the lesion is cystic or solid. Cystic lesions can be managed using the Bosniak classification, while management of solid lesions depends on whether the lesion is well-defined or infiltrative. The approach to well-defined lesions focuses mainly on the differentiation between renal cancer and benign tumors such as angiomyolipoma (AML) and oncocytoma. Differential diagnosis of infiltrative lesions is wider, including primary and secondary malignancies and inflammatory disease, and knowledge of the patient history is essential. Radiologists may establish a possible differential diagnosis based on the imaging features of the renal masses and the clinical history. The aim of this review is to present the contribution of the different imaging techniques and image guided biopsies in the diagnostic management of cystic and solid renal lesions.
Topics: Abscess; Adenoma; Adenoma, Oxyphilic; Angiomyolipoma; Carcinoma, Renal Cell; Carcinoma, Transitional Cell; Contrast Media; Cysts; Humans; Kidney Diseases; Kidney Neoplasms; Leiomyoma; Lymphoma; Magnetic Resonance Imaging; Plasmacytoma; Pyelonephritis; Pyelonephritis, Xanthogranulomatous; Tomography, X-Ray Computed; Ultrasonography; Ultrasonography, Doppler, Color
PubMed: 33435540
DOI: 10.3390/medicina57010051 -
Revista Da Associacao Medica Brasileira... Aug 2019Angiomyolipoma is one of the most common benign solid renal tumors. We investigated the characteristics of renal angiomyolipomas and the clinical outcomes of patients in...
INTRODUCTION
Angiomyolipoma is one of the most common benign solid renal tumors. We investigated the characteristics of renal angiomyolipomas and the clinical outcomes of patients in the last thirteen years.
METHODS
The medical records of the patients who underwent nephrectomy were reviewed retrospectively from July 2005 to May 2018. The laboratory data, radiology, and pathology reports were recorded. Patients diagnosed with angiomyolipoma were included in the study.
RESULTS
A total of 28 patients were included in the study, eight of them male. The mean age of the patients was 55.89+14.49 years. The patients were treated with open and laparoscopic techniques. Partial nephrectomy was performed in 12 patients(42.85%). After pathological examination, 23 patients were diagnosed as fat rich, four patients as fat poor, and one as epithelioid angiomyolipoma. There were no recurrences in the follow-up 91.21+48.31 months.
CONCLUSION
Angiomyolipoma is a rare renal tumor in daily urology practice. Clinicians must be aware of its complications and manage patients well.
Topics: Adult; Aged; Angiomyolipoma; Female; Humans; Immunohistochemistry; Kidney Neoplasms; Magnetic Resonance Imaging; Male; Middle Aged; Nephrectomy; Retrospective Studies; Tumor Burden
PubMed: 31389508
DOI: 10.1590/1806-9282.65.7.977 -
Autopsy & Case Reports 2021Angiomyolipoma with epithelial cysts (AMLEC) is a recently described entity and is an uncommon subtype of kidney angiomyolipomas. AMLEC is a benign entity but usually... (Review)
Review
Angiomyolipoma with epithelial cysts (AMLEC) is a recently described entity and is an uncommon subtype of kidney angiomyolipomas. AMLEC is a benign entity but usually masquerades a renal cell carcinoma on imaging examination. AMLEC has a distinct histological and immunohistochemical staining pattern, which helps in the pathological diagnosis. We present a rare case of AMLEC in a 26-year-old female, which was provisionally diagnosed as renal cell carcinoma on radiology. We also summarize the differential diagnosis of this rare variant, its characteristic features, and a review of the literature.
PubMed: 34458176
DOI: 10.4322/acr.2021.308 -
Archives of Pathology & Laboratory... Jun 2016Angiomyolipoma with epithelial cysts is a rare mesenchymal tumor of the kidney that enters in the differential diagnosis of adult cystic renal neoplasms. These tumors... (Review)
Review
Angiomyolipoma with epithelial cysts is a rare mesenchymal tumor of the kidney that enters in the differential diagnosis of adult cystic renal neoplasms. These tumors demonstrate a slight female predominance and can present either incidentally or with symptoms, commonly flank pain and hematuria. Unlike conventional angiomyolipoma, this variant is characterized grossly by both solid and cystic areas, and histologically by the presence of single or multiple cysts lined by epithelial cells, a subepithelial "cambium-like" layer of small stromal cells with a prominent capillary vasculature, and a thick exterior wall composed of poorly formed fascicles of smooth muscle and thick-walled dysplastic blood vessels. Tumors show a distinct immunohistochemical profile and are often reactive for melanocytic markers (HMB-45 and Melan-A), as well as estrogen receptor and progesterone receptor. These tumors have an indolent clinical course, with no reports of progression or metastasis in reported cases thus far.
Topics: Angiomyolipoma; Biomarkers, Tumor; Diagnosis, Differential; Humans; Immunohistochemistry; Kidney Neoplasms
PubMed: 27232352
DOI: 10.5858/arpa.2015-0170-RS -
Journal of Kidney Cancer and VHL 2022Renal angiomyolipoma (rAML) occurs rarely sporadically but is commonly encountered in patients with tuberous sclerosis complex and lymphangioleiomyomatosis. rAML is a...
Renal angiomyolipoma (rAML) occurs rarely sporadically but is commonly encountered in patients with tuberous sclerosis complex and lymphangioleiomyomatosis. rAML is a rare entity, not seen regularly in daily practice; however, is commonly encountered and diagnosed by clinicians who approach and treat kidney masses. Basic knowledge of this entity is necessary to recognize that despite being benign, these tumors can rarely cause deadly complications such as hemorrhage or severe renal dysfunction or may have malignant components associated with them.
PubMed: 35127338
DOI: 10.15586/jkcvhl.v9i1.221 -
Orphanet Journal of Rare Diseases Mar 2021Lymphangioleiomyomatosis (LAM) is a rare disease that almost exclusively affects women of reproductive age. Patients are warned of the increased risks if they become...
BACKGROUND
Lymphangioleiomyomatosis (LAM) is a rare disease that almost exclusively affects women of reproductive age. Patients are warned of the increased risks if they become pregnant. However, information on pregnancy in patients after the diagnosis of LAM is limited.
METHODS
Patients were collected from the LAM registry study at Peking Union Medical College Hospital, Beijing, China. Patients with a history of pregnancy after the diagnosis of LAM were included. Medical records were reviewed, and baseline information and data during and after pregnancy were collected in May 2018.
RESULTS
Thirty patients with a total of 34 pregnancies after the diagnosis of LAM were included. Livebirth, spontaneous abortion and induced abortion occurred in 10, 6 and 18 pregnancies, respectively. Sirolimus treatment was common (17/34). A total of 6/10, 5/6, and 6/18 patients with livebirths, spontaneous abortions, and induced abortions respectively, had a history of sirolimus treatment. Ten pregnancies (29.4%) had LAM-associated complications during pregnancy, including the exacerbation of dyspnea in 7 patients, pneumothorax in 3 patients (2 resulting in induced abortion and 1 successful parturition), and spontaneous bleeding of renal angiomyolipomas in 2 patients (both having successful parturition). No chylothorax was found during pregnancy. There were six pregnancies in six patients (17.6%) who had a history of livebirth after sirolimus treatment for LAM (all having successful parturition and healthy infants); two of these patients reported exacerbated dyspnea after parturition compared with before pregnancy.
CONCLUSIONS
Patients with LAM, especially those taking sirolimus before pregnancy, were at a higher risk of spontaneous abortion. Complications such as pneumothorax, bleeding of renal angiomyolipoma, and exacerbated dyspnea during pregnancy were common. In patients without spontaneous abortion, sirolimus discontinuation before or during pregnancy did not lead to increased adverse neonatal outcomes.
Topics: Female; Humans; Infant; Infant, Newborn; Pregnancy; Angiomyolipoma; China; Kidney Neoplasms; Lung Neoplasms; Lymphangioleiomyomatosis
PubMed: 33731151
DOI: 10.1186/s13023-021-01776-7 -
Cold Spring Harbor Molecular Case... Apr 2022Tuberous sclerosis complex (TSC) is an inheritable disorder characterized by the formation of benign yet disorganized tumors in multiple organ systems. Germline...
Tuberous sclerosis complex (TSC) is an inheritable disorder characterized by the formation of benign yet disorganized tumors in multiple organ systems. Germline mutations in the (hamartin) or more frequently (tuberin) genes are causative for TSC. The malignant manifestations of TSC, pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipoma (AML), may also occur as independent sporadic perivascular epithelial cell tumor (PEComa) characterized by somatic mutations. Thus, discerning TSC from the copresentation of sporadic LAM and sporadic AML may be obscured in TSC patients lacking additional features. In this report, we present a case study on a single patient initially reported to have sporadic LAM and a mucinous duodenal adenocarcinoma deficient in DNA mismatch repair proteins. Moreover, the patient had a history of Wilms' tumor, which was reclassified as AML following the LAM diagnosis. Therefore, we investigated the origins and relatedness of these tumors. Using germline whole-genome sequencing, we identified a premature truncation in one of the patient's alleles. Using immunohistochemistry, loss of tuberin expression was observed in AML and LAM tissue. However, no evidence of a somatic loss of heterozygosity or DNA methylation epimutations was observed at the locus, suggesting alternate mechanisms may contribute to loss of the tumor suppressor protein. In the mucinous duodenal adenocarcinoma, no causative mutations were found in the DNA mismatch repair genes , or Rather, clonal deconvolution analyses were used to identify mutations contributing to pathogenesis. This report highlights both the utility of using multiple sequencing techniques and the complexity of interpreting the data in a clinical context.
Topics: Adenocarcinoma; Angiomyolipoma; Female; Humans; Kidney Neoplasms; Leukemia, Myeloid, Acute; Male; Tuberous Sclerosis; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins
PubMed: 35483879
DOI: 10.1101/mcs.a006182 -
The Journal of Urology Sep 2015Transarterial embolization is increasingly used in the management of renal angiomyolipoma. The level of evidence establishing the safety and efficacy of transarterial... (Review)
Review
INTRODUCTION
Transarterial embolization is increasingly used in the management of renal angiomyolipoma. The level of evidence establishing the safety and efficacy of transarterial embolization has not increased in parallel.
MATERIALS AND METHODS
Using the MOOSE (Meta-analysis Of Observational Studies in Epidemiology) criteria a systematic review of transarterial embolization of angiomyolipoma was performed to establish procedural safety and efficacy. A MEDLINE® PubMed® search revealed 1,739 publications, of which 31 studies met eligibility criteria.
RESULTS
A total of 524 cases of transarterial embolization of angiomyolipoma were included in analysis. Self-limiting post-embolization syndrome developed following 35.9% of embolizations and further morbidity developed in 6.9%. No procedural mortality was reported. At a mean followup of 39 months the mean size reduction was 3.4 cm (-38.3% of angiomyolipoma diameter). Unplanned repeat embolization or surgery was required in 20.9% of cases during this period. The most frequent indications for repeat procedures included angiomyolipoma revascularization in 30.0% of cases, unchanged or increasing size in 22.6%, refractory or recurring symptoms in 16.7% and representation with acute retroperitoneal hemorrhage in 14.3%. Treatment included a combination of 2 or more embolic agents in 46.8% of cases, ethanol monotherapy in 41.7%, coil monotherapy in 6.2% and foam or microparticle monotherapy in 5.2%.
CONCLUSIONS
Transarterial embolization of angiomyolipoma demonstrates low rates of mortality and serious complications. Re-treatment rates and size reduction at a mean followup of 39 months are presented. Longitudinal data assessing long-term size reduction and re-treatment rates are lacking. Recommendations guiding the indications for transarterial embolization and clear followup require further longitudinal data.
Topics: Angiomyolipoma; Arteries; Embolization, Therapeutic; Humans; Kidney Neoplasms
PubMed: 25916674
DOI: 10.1016/j.juro.2015.04.081