The authors report on a premenopausal female hemodialysis patient with relapsing pneumothorax, in whom the diagnosis of pulmonary lymphangioleiomyomatosis (LAM) was made. Ten years earlier, she had retroperitoneal bleeding from a kidney tumor corresponding to an angiomyolipoma (AML). The association between renal AML and pulmonary LAM is reviewed. Renal AML represents the most frequent extrapulmonary manifestation of pulmonary LAM. It is found in 32% to 60 % of cases in which a systematic search with abdominal computed tomography (CT) scan is done. The latter approach is advised to help avoid complications caused by renal AML. Therapeutic recommendations for renal AML are based on tumor size or presence of symptoms. Conversely, premenopausal women presenting with AML should be investigated for associated pulmonary LAM with high-resolution CT scan. Because LAM is very likely estrogen dependent, one of the several proposed antiestrogen therapies should be considered. Finally, there is significant overlap between renal AML, pulmonary LAM, and tuberous sclerosis. The latter should therefore be actively searched for in case of either AML or LAM.
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http://dx.doi.org/10.1016/s0272-6386(03)00006-4 | DOI Listing |
Objective: To analyze clinical and radiological features and trends in the management pattern of renal angiomyolipomas (AML) in a tertiary care center over a 30-year period.
Patients And Methods: We retrospectively reviewed the charts of patients referred to our institutions from 1992 to 2022 with final diagnosis of AML. Demographics, clinical presentation, radiological findings, renal function status, and treatment options were recorded.
Clin J Gastroenterol
January 2025
Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan.
A 55-year-old man with tuberous sclerosis complex (TSC) was diagnosed with left renal angiomyolipoma (AML), a group of perivascular epithelioid cell tumors called PEComas. He had received the mTOR inhibitor everolimus, which resulted in a complete response. However, a left renal mass relapsed in two years, followed by the occurrence of a hepatic mass five months later.
View Article and Find Full Text PDFBlood Res
December 2024
Division of Laboratory Hematology and Blood Banking, Department of Medical Laboratory Sciences, School of Paramedical Sciences, Shiraz University of Medical Sciences, Meshkin Fam Street, P.O. Box, Shiraz, 71345-1744, Iran.
Background: Acute myeloid leukemia (AML) is a heterogeneous malignancy that responds to various therapies. The sensitivity of leukemia cells to chemotherapy is affected by the DNA damage response (DDR). In this study, we examined the association between RAD51 rs1801320, XRCC3 rs861539, NBS1 rs1805794, MRE11 rs569143, and RAD50 rs2299014 variants of the homologous recombination repair (HRR) pathway and AML outcomes.
View Article and Find Full Text PDFFront Oncol
December 2024
Fujian Provincial Hospital, Provincial Clinical Medical College, Fujian Medical University, Fuzhou, China.
Purpose: This study aims to assess the diagnostic efficacy of conventional ultrasound (CUS) and contrast-enhanced ultrasound (CEUS) in detecting fat-poor angiomyolipomas(AML) with dimensions less than 5 cm. Additionally, the study seeks to identify independent indicators for predicting the presence of fat-poor AML.
Methods: We conducted a retrospective analysis of patients diagnosed with renal AML and renal cell carcinoma, who were admitted and underwent surgery at Fujian Provincial Hospital from January 2013 to October 2023.
Diseases
December 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD).
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