Sequencing PEComas: Viewing Unicorns through the Molecular Looking Glass

Groisberg, Roman; Subbiah, Vivek

doi:10.1159/000510650

Cited by 4 publications

(3 citation statements)

References 12 publications

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“…Furthermore, there are genetic alterations of the mTOR pathway, aside from TSC1 and TSC2 mutations, that also drive PEComa growth. These other genetic alterations can point the way to future therapeutic targets ( 19 ).…”

Section: Discussionmentioning

confidence: 99%

Massive Malignant Epithelioid Angiomyolipoma of the Kidney

Tessone

Lichtbroun

Srivastava

et al. 2022

jkcvhl

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Renal angiomyolipomas (AMLs) are a subset of perivascular epithelioid cell neoplasms (PEComas) that are associated with tuberous sclerosis complex (TSC). Epithelioid angiomyolipomas (EAMLs) are a rare variant of AML with more aggressive propensities. EAMLs with malignant potential can be difficult to distinguish from relatively benign AMLs and other renal tumors. Although there are no established criteria for predicting EAML malignancy, there are proposed histologic parameters that are associated with higher tumor risk. EAML can be treated with surgical resection as well as mTOR inhibitors. Here, we present a unique case of a patient with a 36-cm renal EAML metastatic to the lungs that was treated with complete surgical resection of the primary lesion and mTOR inhibition.

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Section: Discussionmentioning

confidence: 99%

Massive Malignant Epithelioid Angiomyolipoma of the Kidney

Tessone

Lichtbroun

Srivastava

et al. 2022

jkcvhl

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“…Next-generation sequencing of PEComas has been performed in a small number of visceral tumors [97,[99][100][101][102]. Analysis of the genomics of 31 advanced or metastatic PEComas showed a mean of 3.2 alterations per tumor.…”

Section: Squamous Cell Carcinoma (Scc)mentioning

confidence: 99%

“…On November 23, 2021, the FDA approved the mTOR inhibitor nab-sirolimus (nanoparticle albumin-bound sirolimus) for the treatment of PEComas [99,103]. The mTOR pathway is activated by alterations in a variety of genes, including TSC1 and TSC2; PEComa patients with a genomic aberration of TSC2 may respond better to sirolimus-type therapy than those with a gene abnormality of TSC1 [97,104].…”

Section: Squamous Cell Carcinoma (Scc)mentioning

confidence: 99%

Dermatologic Disease-Directed Targeted Therapy (D3T2): The Application of Biomarker-Based Precision Medicine for the Personalized Treatment of Skin Conditions—Precision Dermatology

Cohen

Kurzrock

2022

Dermatol Ther (Heidelb)

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Precision dermatology uses individualized dermatologic disease-directed targeted therapy (D 3 T 2 ) for the management of dermatoses and for the evaluation and therapy of cutaneous malignancies. Personalized/precision strategies are based on biomarkers that are most frequently derived from tissue transcriptomic expression or genomic sequencing or from circulating cytokines. For instance, the pathologic diagnosis of a pigmented lesion and determining the prognosis of a malignant melanocytic neoplasm can be enhanced by genomic/transcriptomic analysis. In addition to biopsy, innovative techniques have been developed for

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