Tyrosine kinase-altered spindle cell neoplasms with EGFR internal tandem duplications

Article Pathology

Broadening the spectrum of NTRK rearranged mesenchymal tumors and usefulness of pan-TRK immunohistochemistry for identification of NTRK fusions

Iva Brcic et al.

Summary: Fusions involving NTRK1, NTRK2, and NTRK3 are oncogenic drivers in a spectrum of mesenchymal neoplasms. The pan-TRK assay serves as a reliable diagnostic marker in soft tissue sarcomas. Additionally, NTRK-fusion-positive primary mesenchymal tumors have been identified in the lung and skin.

MODERN PATHOLOGY (2021)

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Article Pathology

Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis

Yajuan J. Liu et al.

Summary: This study presented molecular, clinical, and pathologic features of 12 cartilaginous soft tissue neoplasms showing a predilection for the TMJ region and the distal extremities. Gene fusions were detected in ten cases, including three novel fusions. While the tumors generally resemble soft tissue chondroma morphologically, additional findings expand the morphologic spectrum of these neoplasms.

MODERN PATHOLOGY (2021)

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Article Pathology

Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma

Alyssa J. Penning et al.

Summary: This study reports the clinicopathologic and molecular features of 14 BRAF-altered tumors, with 5 having BRAF point mutations and 10 harboring one or more BRAF fusions. BRAF fusion-positive tumors included one harboring two BRAF fusions and another harboring three alternative splice variants of EPB41L2-BRAF. These tumors, occurring in males and females ranging from birth to 32 years, exhibit ovoid to short spindle cells with haphazard arrangement and intersecting fascicles.

MODERN PATHOLOGY (2021)

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Article Oncology