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Next-Generation Sequencing: Key for Diagnosing Angiomyolipoma - A Case Report
José Revilla López1, Rainer Enciso Chancahuana2, Sayuri Meza Cruzado2
1ALIADA Centro Oncológico, Lima, Peru.
Case Reports in Oncology
|February 24, 2025
Summary
Epithelioid angiomyolipomas (EAMLs) are rare tumors. Next-generation sequencing aided in diagnosing a retroperitoneal EAML, highlighting its role in precision medicine for rare cancers.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Renal angiomyolipomas (AMLs) are rare perivascular epithelioid cell tumor (PEComa) family neoplasms.
- Epithelioid AMLs (EAMLs) possess malignant potential and are associated with tuberous sclerosis complex (TSC) due to TSC1/2 gene mutations activating the mTOR pathway.
