부산대학교 도서관

Objectives The neurotrophic tyrosine receptor kinase (NTRK) fusion transcript (FT) is a major genetic landmark of infantile fibrosarcoma (IFS) and cellular congenital mesoblastic nephroma (cCMN) but is also described in other tumours. The recent availability of NTRK -targeted drugs enhances the need for better identification. We aimed to describe the anatomic locations and imaging features of tumours with NTRK -FT in children. Case series Imaging characteristics of NTRK -FT tumours of 41 children (median age: 4 months; 63% <1 year old; range: 0-188) managed between 2001 and 2019 were retrospectively analysed. The tumours were located in the soft tissues (n  = 24, including 19 IFS), kidneys (n  = 9, including 8 cCMN), central nervous system (CNS) (n  = 5), lung (n  = 2), and bone (n  = 1). The tumours were frequently deep-located (93%) and heterogeneous (71%) with necrotic (53%) or haemorrhagic components (29%). Although inconstant, enlarged intratumoural vessels were a recurrent finding (70%) with an irregular distribution (63%) in the most frequent anatomical locations. Conclusion Paediatric NTRK -FT tumours mainly occur in infants with very variable histotypes and locations. Rich and irregular intra-tumoural vascularization are recurrent findings. Advances in knowledge Apart from IFS of soft tissues and cCMN of the kidneys, others NTRK -FT tumours locations have to be known, as CNS tumours. Better knowledge of the imaging characteristics may help guide the pathological and biological identification. [ABSTRACT FROM AUTHOR]