J Pathol Transl Med.  2021 Nov;55(6):421-422. 10.4132/jptm.2021.09.01.

What’s new in molecular genetic pathology 2021: solid tumors and NGS panel selection

Affiliations
  • 1Geisinger Medical Laboratories, Geisinger Health, Danville and Wilkes-Barre, PA, USA

Abstract

The linchpin of precision medicine is molecular genetic and genomic testing. Molecular biomarkers are important for establishing precise diagnoses and for predicting therapeutic responses that enable cancer patients to receive personalized and targeted treatment. Below are highlights of the current considerations in next generation sequencing (NGS) panel selection, and in molecular testing of solid tumors of the lung, digestive system, thyroid and soft tissue.


Figure

  • Fig. 1. Dedifferentiated liposarcoma with neoplastic spindle cells in perigastric mass. (A) H&E stain, 40 x. (B) FISH shows abnormally amplified MDM2 gene (orange signals) relative to CEP12 control (green). MDM2/ CEP12 ratio > 2.0:1 normal cut-off.


Reference

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