Abstract Learning Objectives After completing this course, the reader will be able to: Interpret
the histologic findings of rhabdomyosarcoma and differentiate rhabdomyosarcoma from …

The PTPN11 gene encodes SHP-2, a nonreceptor protein tyrosine phosphatase that relays
signals from activated growth factor receptors to p21 ras (Ras) and other signaling …

Background Rhabdomyosarcoma (RMS) occasionally occurs in a context of a predisposition
syndrome. The most common predisposition syndromes include germline TP53 mutations …

Background and aims Neurofibromatosis–Noonan syndrome (NFNS) is an extremely rare
genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 …

Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11,
KRAS, SOS1, and RAF1. We performed SOS1, RAF1, BRAF, MEK1, and MEK2 mutation …

PTPN11 has been identified as a causative gene in Noonan syndrome (NS), responsible for
about 50% of cases of NS. Given the association between NS and an increased risk of some …

Background Mutations in NF1 gene could cause allelic disorders with clinical spectrum of
Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described …

Benign nerve sheath tumors (schwannoma and neurofibroma) involving the urinary
bladders are rare with only case reports and limited series. We identified 6 neurofibromas …

Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting∼ 1 in
3,500 individuals worldwide. Mutations of the NF1 tumor suppressor gene predispose …

Summary Introduction Neurofibromatosis Type 1 (NF1) is an autosomal dominant,
multisystem, neurocutaneous disorder. This condition has been associated with lower …