Simple Summary Glioblastoma (GBM) is the most malignant primary brain tumor, for which
improving patient outcome is limited by a substantial amount of tumor heterogeneity …

Background Conventional chondrosarcomas are malignant cartilage tumors considered
radioresistant. Nevertheless, retrospective series show a small but significant survival …

Objectives The landmark ADAURA study recently demonstrated a significant disease-free
survival benefit of adjuvant osimertinib in patients with resected EGFR-mutated lung …

Supposed risk of malignant transformation of salivary gland pleomorphic adenoma (SGPA)
is an important reason for aggressive retreatment in recurrent pleomorphic adenoma (RPA) …

The risk of developing urothelial carcinoma of the bladder (UCB) in patients treated by
radical nephroureterectomy (RNU) for an upper urinary tract urothelial carcinoma (UTUC) is …

Background Metastatic basal cell carcinoma (mBCC) is a very rare entity, and diagnosis can
be challenging. Therapeutic options are limited, and response to targeted therapy is poor …

Next-generation sequencing (NGS) panel analysis on DNA from formalin-fixed paraffin-
embedded (FFPE) tissue is increasingly used to also identify actionable copy number gains …

Background: Heterozygous gain-of-function variants in SAMD9L are associated with ataxia-
pancytopenia syndrome (ATXPC) and monosomy 7 myelodysplasia and leukemia …

Congenital diarrhea diseases are a heterogeneous group of conditions and are the major
cause of neonatal mortality worldwide. Proprotein convertase 1/3 (PC1/3) deficiency has …

Background Congenital myasthenic syndrome 22 (CMS22) is a rare autosomal recessive
disorder due to isolated PREPL deficiency and characterized by neonatal hypotonia …