To present a patient material of renal angiomyolipoma (AML) with focus on the risk of bleeding during active surveillance (AS). Medical records, 1999-2014, were studied and 98 patients (80 female, 18 men) with renal AML were identified. Eleven patients had tuberous sclerosis complex (TSC). Mean age was 54 (13-89) years. Sixty patients (61%) were asymptomatic at presentation, 33 (34%) presented with flank pain and five (5%) with hematuria. Retroperitoneal bleeding or hematuria was diagnosed in 20 patients with a mean AML size of 74 mm (25-200 mm). Twenty-one patients were treated with angioembolization at time of diagnosis and 25 had surgery. Forty-five patients with sporadic AML (mean size 34 mm) and six with TSC (mean size 120 mm) were selected for AS. Only one patient with sporadic AML (46 mm) had a bleeding, whereas two of the six TSC patients had bleedings from three kidneys (AML 70-300 mm). In 25 patients (49%), the AML-size increased with 2.7 mm/year in sporadic and 5.4 mm/year in TSC-associated AML. Thirteen patients were treated with AE (including all six TSC-patients) and five with surgery in 22 kidneys due to AML-size in 16, bleeding in four and suspicion of cancer in two. Bleeding occurred in 20% of AML at presentation. In patients selected for AS, we found a very low risk of bleeding in sporadic AML justifying our cut off size of 50 mm to trigger intervention. In TSC-associated AML individually tailored follow-up is needed due to a higher intervention rate.
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http://dx.doi.org/10.1080/21681805.2020.1716066 | DOI Listing |
Case Rep Oncol
January 2025
ALIADA Centro Oncológico, Lima, Peru.
Introduction: Renal angiomyolipomas (AMLs) are rare tumors categorized within the perivascular epithelioid cell tumor (PEComa) family, most of which are benign, except for epithelioid AMLs (EAML) with malignant potential. EAML develops sporadically or as part of the tuberous sclerosis complex (TSC), where mutations of the genes result in increased activation of the mammalian target of the rapamycin () signaling pathway.
Case Presentation: A 52-year-old female patient experienced dyspnea and abdominal pain, leading to the discovery of a retroperitoneal tumor confirmed by tomography.
Cancer Discov
February 2025
Wellcome Sanger Institute, Hinxton, United Kingdom.
Approximately 10% of children with cancer harbor a mutation in a predisposition gene. In children with the kidney cancer Wilms tumor, the prevalence is as high as 30%. Certain predispositions are associated with defined histological and clinical features, suggesting differences in tumorigenesis.
View Article and Find Full Text PDFFront Immunol
August 2024
Department of Microbiology and Immunology, University of Illinois at Chicago College of Medicine, Chicago, IL, United States.
DEAD-box helicases are multifunctional proteins participating in many aspects of cellular RNA metabolism. DEAD-box helicase 41 (DDX41) in particular has pivotal roles in innate immune sensing and hematopoietic homeostasis. DDX41 recognizes foreign or self-nucleic acids generated during microbial infection, thereby initiating anti-pathogen responses.
View Article and Find Full Text PDFCancer Rep (Hoboken)
August 2024
Onco-Hematology Division, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Background: Myeloid neoplasms, including acute myeloid leukemia, have been traditionally among the less investigated cancer types concerning germline predisposition. Indeed, myeloid neoplasms with germline predisposition are challenging to identify because often display similar clinical and morphological characteristics of sporadic cases and have similar age at diagnosis. However, a misidentifications of familiarity in myeloid neoplasms have a critical impact on clinical management both for the carriers and their relatives.
View Article and Find Full Text PDFJ Med Ultrasound
January 2024
Department of Urology, Dokkyo Medical University, Mibu, Japan.
Background: Recent advances in imaging methods increased the incidental detection of small renal angiomyolipoma (AML). However, guidelines for managing small AML are lacking, and decisions about imaging frequency and timing of intervention are made on an individual basis. This study aims to investigate the clinical behavior of small sporadic AML and propose an optimal follow-up strategy.
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