At least 5% of cancer diagnoses are attributed to a causal pathogenic or likely pathogenic
germline genetic variant (hereditary cancer syndrome—HCS). These individuals are …

Identification of mutations in histones in a number of human neoplasms and developmental
syndromes represents the most compelling evidence to date for a causal role of epigenetic …

Purpose: Plexiform neurofibromas (PNF) are benign peripheral nerve sheath tumors (PNST)
associated with neurofibromatosis type 1 (NF1). Despite similar histologic appearance …

Abstract “Inflammatory rhabdomyoblastic tumor”(IRMT) is a recently coined name for a
distinctive soft tissue neoplasm characterized by slow growth, a dense histiocytic infiltrate …

Introduction Neurofibromatosis 1 and schwannomatosis are characterized by potential
lifelong morbidity and life-threatening complications. To date, however, diagnostic and …

Bone and soft tissue tumors are generally classified into complex karyotype sarcomas
versus those with recurrent genetic alterations, often in the form of gene fusions. In this …

Background Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft tissue
sarcomas that often develop in patients with neurofibromatosis type 1 (NF1). To address the …

Background Detecting organ and tissue damage is essential for early diagnosis, treatment
decisions, and monitoring disease progression. Methylation-based assays offer a promising …

Introduction Malignant peripheral nerve sheath tumors (MPNST) pose a significant
therapeutic challenge due to high recurrence rates after surgical resection and a largely …

Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft‐tissue sarcomas
with a poor survival rate, presenting either sporadically or in the context of neurofibromatosis …