Next-Generation Sequencing: Key for Diagnosing Angiomyolipoma - A Case Report.
Jos�� Revilla L��pez, Rainer Enciso Chancahuana, Sayuri Meza Cruzado, Francisco Mel��ndez R��os, Yashira L Negr��n Abril, Daniel Sumarriva, Timothy Samec, Yasser Sullcahuaman Allende, Ivan Ch��vez Passiuri, Luis Casanova Marquez, Carlos Carracedo Gonz��les
Author Information
Jos�� Revilla L��pez: ALIADA Centro Oncol��gico, Lima, Peru.
Rainer Enciso Chancahuana: Sociedad Cient��fica San Fernando - UNMSM, Lima, Peru.
Sayuri Meza Cruzado: Sociedad Cient��fica San Fernando - UNMSM, Lima, Peru.
Francisco Mel��ndez R��os: Sociedad Cient��fica San Fernando - UNMSM, Lima, Peru.
Yashira L Negr��n Abril: Caris Life Sciences, Phoenix, AZ, USA.
Daniel Sumarriva: Caris Life Sciences, Phoenix, AZ, USA.
Timothy Samec: Caris Life Sciences, Phoenix, AZ, USA.
Yasser Sullcahuaman Allende: Instituto Nacional de Enfermedades Neopl��sicas, Lima, Peru.
Ivan Ch��vez Passiuri: Instituto Nacional de Enfermedades Neopl��sicas, Lima, Peru.
Luis Casanova Marquez: ALIADA Centro Oncol��gico, Lima, Peru.
Carlos Carracedo Gonz��les: ALIADA Centro Oncol��gico, 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. She was initially diagnosed with a retroperitoneal liposarcoma with lung metastasis. Following a first-line anthracycline-based chemotherapy, the patient achieved a complete clinical and tomographic response. Subsequent surgical resection of the primary tumor and a course of ifosfamide monotherapy yielded a 36-month progression-free survival to date. Comprehensive molecular profiling of the primary tumor by whole exome sequencing revealed pathogenic mutations in and the absence of amplifications in and , raising the need to consider a differential diagnosis in PEComas, and contemplate the potential use of // pathway inhibitors. Pathological re-evaluation confirmed the diagnosis of a metastatic retroperitoneal AML with complete response and no evidence of disease. Conclusion: This case underscores the invaluable role of next-generation sequencing testing in the differential diagnosis of retroperitoneal tumors, as well as the ability to identify precise therapeutic targets for the treatment of rare soft tissue cancer types within the realm of precision medicine.
