
Pashtoon Kasi: Here’s a cool precision medicine story about Liquid Biopsies
Quoting Pashtoon Kasi, oncologist and researcher at Weill Cornell Medicine on X/Twitter:
“Here’s a cool precision medicine story about Liquid Biopsies. We did a webinar with the Cholangiocarcinoma Foundation. A patient’s family from Australia reached out inquiring if I could take a look at their tumour’s Next-generation sequencing (NGS) report. 70 gene testing only showed TP53. I call this a “bland” report.
A “bland” report that doesn’t have anything actionable, positive or negative, needs to be investigated further. A more comprehensive test with DNA and RNA is of value to make sure we aren’t missing any fusions. Important for cholangiocarcinoma – a target-rich disease.
Further tissue testing wasn’t feasible due to low cellularity of the tumor specimen. Opportunities for precision medicine are missed up to a third of the time if not more due to specimen issue, and/or delayed due to tissue not being readily available.
A couple months later I heard back from the family in who were able to send a liquid biopsy here to USA. Guess what we found! A RET Fusion. However, RET fusion inhibitors still not approved in Australia. Precision medicine isn’t complete without access to drugs.
With Vivek Subbiah, Geoff Oxnard and Hanna Tukachinsky we were able to find/enroll her in a clinical trial near her home. Liquid biopsies increase opportunities for precision medicine. Also, myth: fusions not detectable on liquid biopsies.
By popular demand, here’s an update: Response to RET after just 2 weeks. From a CA19-9 of nearly 5000 down to ~1000. Not surprising when the driver is a fusion, the responses are brisk, robust, and durable. Remember this is 3rd line.”
Source: Pashtoon Kasi/Twitter
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