(7/7) Identifying NOTCH1 mutations or intragenic deletions is important for diagnostic and prognostic purposes. As the key driver of leukemogenesis in T-ALL, NOTCH1 mutations can clinch the diagnosis. While NOTCH1 mutations may not define prognosis, they can serve as a molecular marker for minimal residual disease (MRD) in selected patients. Emerging therapies like γ-Secretase inhibitors (GSIs) and combination therapies with glucocorticoids, mTOR inhibitors, or BCL2 inhibitors, BET inhibitors and CDK7 inhibitors are currently being tested; there are no FDA-approved targeted therapies for NOTCH1 in T-ALL. On a personal note, we had a patient with suspected T-ALL who had a negative NOTCH1 variant in our hybrid capture-based targeted Next Generation Sequencing (NGS) assay, but we were able to detect an intragenic NOTCH1 deletion between intron 2 and exon 28 in an amplicon-based NGS assay dedicated to identifying fusion partners, highlighting the utility of various NGS panel based assays in molecular and precision diagnostics as well. #AMPtutorials #AMPath24 #molpath #pathtwitter #pathX #path2path #PathX

Did you miss our @MolecularHealth Tertiary Analysis demo at #AMP2024? Request a demo online! Learn how MH Guide CAS can increase your productivity and simplify your molecular tumor profiling workflow. Request here: idtb.io/ygrbod #AMP24 #AMPath #AMPath24 @AMPath

Did you attend #AMPath24 and forget to pickup our "Molecular in My Pocket" reference cards? Not to worry! You can download them here: amp.org/education/amp-review…. Please share them!

When a somatic CGP test flags potential germline variants, how many patients follow through for further testing and how does it impact them and their families? We partnered with @AHNtoday to examine referral patterns in a large community setting. If you missed the poster presentation at #AMPath24, read about the study here: bit.ly/4eNHZOM

Our team is grateful to have met with molecular diagnostics experts and peers who are helping to shape the future of diagnostic testing innovation at the @AMPath 2024 Annual Meeting #AMP2024 #AMPath24 #diagnostics #HostResponse

Thank you #Vancouver, but it’s time to fly #AMPath24 #MontaniSemperLiberi #LetsGo

#AMPath24 is a wrap. Congratulations and thanks to all who contributed to such an incredible meeting advancing molecular medicine! SAVE THE DATE for #AMPath25 in beautiful Boston!

Thank you #AMPath24 Program Cmte, all our exhibitors & sponsors, speakers, attendees, volunteers, and the @AMPath team for another truly amazing meeting. Thank you #Vancouver for being such a wonderful host city. Save the dates now for #AMPath25 Boston! #beantown

It was a great meeting! #AMPath24

It was a great AMP 2024 annual meeting! Looking forward to Boston in 2025. Good bye Vancouver! #AMPath24

Thanks to the @AMPath staff, the program organizers and the exhibitors for making a truly super #AMPath24 !

That's a wrap on #AMPath24 🌟🎉 thanks to everyone who connected with us over the past few days. The Pathologist team is heading back to the office very humbled and excited for the future 💛

It has been a great week at #AMPath24 in Vancouver, British Columbia, Canada. We enjoyed the chance to meet with attendees to discuss solutions that can answer the challenges of cancer care. #Pathology #CancerCare

So many opportunities to learn from long range sequencing approaches. Great perspective on the current landscape and personal experience presented by @sedlazeck @BCM_HGSC at #AMPath24. @AMPath

Make sure to grab a copy of the latest issue of The Pathologist at #AMPath24 from booth #624 🗞️

Download the poster "Development of a machine learning model for Aspyre Lung Blood: a new assay for rapid detection of actionable variants from plasma in NSCLC patients" presented today at #AMPath24 hubs.ly/Q02ZbNPF0 #liquidbiopsy #NSCLC #biomarkers #pathology #genomics4all

About to give a talk summarizing long read sequencing benefits and challenges #AMPath24 at room 109 (10:15am) ! Talking across @PacBio and @nanopore and their importance and showing examples.

Kristina Giorda of @WatchmakerGeno1 gives a talk titled "Maximizing data outputs and leveraging new data modalities to fuel clinical sequencing applications" on an #AMPath24 Innovation Spotlight Stage.

Lots of action during the poster session today! #AMPath24

It's the final day in the exhibit hall at #AMPath24! This is your last chance to drop by booth #1107 to experience our DRAGEN and @Illumina Connected Insights demo station. 🔬