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Pulmonary metastases of a renal angiomyolipoma: A case report, with whole-exome sequencing analysis. | LitMetric

AI Article Synopsis

  • - The case discusses a rare instance of pulmonary metastasis from renal angiomyolipoma (AML) in an 82-year-old woman, highlighting the need to differentiate between multicentric growth and true metastasis.
  • - This patient had pulmonary nodules that were uniquely composed of fat, and her condition remained benign over a decade, emphasizing the atypical behavior of AML.
  • - Whole-exome sequencing revealed specific mutations in the lung lesions, including a TSC2 mutation not found in her blood, suggesting that these lesions originated from her renal AML, which underscores the importance of recognizing such presentations for better diagnosis and treatment.

Article Abstract

We present a case of pulmonary metastasis originating from renal angiomyolipoma (AML), as evidenced by whole-exome sequencing (WES) analysis. Although AML predominantly arises in the kidneys, it can emerge in various body parts, making it important to distinguish between multicentric development and metastasis. However, previous studies have not distinguished between these conditions. Our case features an 82-year-old woman with a history of renal AML who presented with multiple, randomly distributed, bilateral pulmonary nodules of varying size and pure fat densities. The patient's condition followed a benign course over 10 years. Through WES, we discovered shared mutations in pulmonary lesions that were absent in the patient's blood, including a pathological mutation in TSC2, suggesting a metastatic origin from renal AML. Knowledge of the pulmonary manifestations of AML and their distinctive imaging findings can help radiologists and clinicians diagnose and manage patients with similar presentations.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378100PMC
http://dx.doi.org/10.1016/j.radcr.2024.07.113DOI Listing

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