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Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib.


ABSTRACT: Infantile fibrosarcoma (IFS) is nearly universally driven by gene fusions involving the NTRK family. ETV6-NTRK3 fusions account for ?85% of alterations; the remainder are attributed to NTRK-variant fusions. Rarely, other genomic aberrations have been described in association with tumors identified as IFS or IFS-like. We describe the utility of genomic characterization of an IFS-like tumor. We also describe the successful treatment combination of VAC (vincristine, actinomycin, cyclophosphamide) with tyrosine kinase inhibitor (TKI) maintenance in this entity. This patient presented at birth with a right facial mass, enlarging at 1 mo to 4.9 × 4.5 × 6.3 cm. Biopsy demonstrated hypercellular fascicles of spindle cells with patchy positivity for smooth muscle actin (SMA) and negativity for S100, desmin, myogenin, and MyoD1. Targeted RNA sequencing identified a novel RBPMS-MET fusion with confirmed absence of ETV6-NTRK3, and the patient was diagnosed with an IFS-like tumor. A positron emission tomography (PET) scan was negative for metastatic disease. VAC was given for a duration of 10 mo. Resection at 13 mo of age demonstrated positive margins. Cabozantinib, a MET-targeting TKI, was initiated. The patient tolerated cabozantinib well and has no evidence of disease at 24 mo of age. We describe a novel RBPMS-MET driver fusion in association with a locally aggressive IFS-like tumor. MET functions as an oncogene and, when associated with the RNA binding protein RBPMS, forms an in-frame fusion product that retains the MET kinase domain. This fusion is associated with aberrant cell signaling pathway expression and subsequent malignancy. We describe treatment with cabozantinib in a patient with an IFS-like neoplasm.

SUBMITTER: Gupta A 

PROVIDER: S-EPMC7552925 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Infantile fibrosarcoma-like tumor driven by novel <i>RBPMS-MET</i> fusion consolidated with cabozantinib.

Gupta Ajay A   Belsky Jennifer A JA   Schieffer Kathleen M KM   Leraas Kristen K   Varga Elizabeth E   McGrath Sean D SD   Koo Selene C SC   Magrini Vincent V   Wilson Richard K RK   White Peter P   Mardis Elaine R ER   Jatana Kris R KR   Cottrell Catherine E CE   Setty Bhuvana A BA  

Cold Spring Harbor molecular case studies 20201007 5


Infantile fibrosarcoma (IFS) is nearly universally driven by gene fusions involving the NTRK family. <i>ETV6-NTRK3</i> fusions account for ∼85% of alterations; the remainder are attributed to NTRK-variant fusions. Rarely, other genomic aberrations have been described in association with tumors identified as IFS or IFS-like. We describe the utility of genomic characterization of an IFS-like tumor. We also describe the successful treatment combination of VAC (vincristine, actinomycin, cyclophospha  ...[more]

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