Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation–associated metastatic renal-cell carcinoma

Samer Alsidawi; Pashtoon Murtaza Kasi

doi:10.1101/mcs.a002220

PMC full text:

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002220.

doi: 10.1101/mcs.a002220

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Table 1.

Commercial next-generation sequencing (NGS)-based assay identifying multiple genomic alterations alongside a brief description of potential personalized targeted therapies

Genomic alterations detected^a	Potential targeted therapy
TSC2 H1620R,Y1650C	Mammalian target of rapamycin (mTOR) inhibitors.
CDKN2A/B loss	Cyclin-dependent kinase (CDK) 4/6 inhibitors;
	mouse double minute 2 homolog (MDM2) inhibitors.
ARID2 L202	–

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^aOther variants of unknown significance that were also detected on NGS assay (FoundationONE) included ARID1B Q129_Q130insQQ; BRCA2 D820G; DICER1 T1214P; FLT3 V579I; MAP3K1 S939C; RANBP2 K1479E; RICTOR rearrangement.