Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Michigan Center for Translational Pathology, |
RCV000754610 | SCV000864230 | pathogenic | Congenital fibrosarcoma | 2018-12-13 | no assertion criteria provided | clinical testing | The LMNA–NTRK1 fusion protein encodes a coiled-coil dimerization domain of LMNA fused to the tyrosine kinase domain of NTRK1. LMNA–NTRK1 fusions have been implicated in a number of malignancies, including Spitz nevi (Wiesner et al. 2014), colorectal cancer (Sartore-Bianchi et al. 2015), lung cancer (Vaishnavi et al. 2013), soft-tissue sarcomas (Florian et al. 2016; Wong et al. 2016; Kohsaka et al. 2018), and a rare case of infantile-onset lipofibromatosis-like neural tumor (Bartenstein et al. 2018). |