Tag Archive for: thyroidcancer

Mismatch repair deficiency tested in seven cancer types

Sapien is surveying different #tumor types in its #biobank for mismatch repair-deficiency (MMR-D), also called microsatellite instability (MSi-High). This is because #colorectalcancer #patients with MMR-D do not respond well to standard #chemotherapy but do respond to immune checkpoint inhibitors or ICI. To see which other #cancers may benefit from immune checkpoint inhibitors such as #PD1, we tested 500 curated cases of Endometrial, H&N, Kidney, Liver, Gastric and Thyroid cancers and compared them to 165 colorectal cancers by IHC.
We observe that H&N, Liver and Thyroid cancer have low MMR-D. However, Endometrial cancers have 4-5 times higher MMR-D as compared to CRC; Stomach and Renal cancers also have 5-6% MMR-D cases. Our data suggests that immune checkpoint inhibitors may greatly improve the response rate and survival of Endometrial, Stomach and Kidney cancers in addition to CRC.

HER2 Oncogenic mutations and amplifications are common across many Indian solid tumors

Until recently, HER2 (or ErbB2) targeting drugs were only approved for HER2-amplified breast & gastric cancers. FDA has now granted accelerated approval for trastuzumab or Enhertu to treat lung cancer patients bearing activating HER2 mutations. We analyzed our data of ~1000 solid cancer cases generated using the OncomineTM Dx NGS panel to determine the pattern of ERBB2 amplification vs. mutations. We see that in some cancers, amplifications are more common (breast, gastric, endometrial cancers) but in others, activating mutations are more common (colorectal, lung, thyroid and gliomas) with the most common mutation being V842I in Indian samples. Molecular insights gained from such NGS analysis can hopefully improve precision medicine by expanding the use of approved HER2-targeting drugs for colorectal, endometrial, gliomas, thyroid and other cancer patients that are likely to benefit from them.