Neoplasms with a myopericytomatous pattern represent a morphological spectrum of lesions encompassing
myopericytoma of the skin and soft tissue,
angioleiomyoma,
myofibromatosis/infantile haemangiopericytoma and putative
neoplasms reported as malignant
myopericytoma. Lack of reproducible phenotypic and genetic features of malignant myopericytic
neoplasms have prevented the establishment of myopericytic
sarcoma as an acceptable diagnostic category. Following detection of a LMNA-NTRK1 gene fusion in an index case of paediatric haemangiopericytoma-like
sarcoma by combined whole-genome and
RNA sequencing, we identified three additional
sarcomas harbouring NTRK1 gene fusions, termed '
spindle cell sarcoma, NOS with myo/haemangiopericytic growth pattern'. The patients were two children aged 11 months and 2 years and two adults aged 51 and 80 years. While the tumours of the adults were strikingly
myopericytoma-like, but with clear-cut atypical features, the paediatric cases were more akin to infantile
myofibromatosis/haemangiopericytoma. All cases contained numerous thick-walled dysplastic-like vessels with segmental or diffuse nodular myxohyaline myo-intimal proliferations of smooth muscle actin-positive cells, occasionally associated with
thrombosis. Immunohistochemistry showed variable expression of smooth muscle actin and CD34, but other mesenchymal markers, including STAT6, were negative. This study showed a novel variant of myo/haemangiopericytic
sarcoma with recurrent NTRK1 gene fusions. Given the recent introduction of a novel therapeutic approach targeting NTRK fusion-positive
neoplasms, recognition of this rare but likely under-reported
sarcoma variant is strongly encouraged.