Inflammatory myofibroblastic tumor(IMT)of the biliary tract is rare,and often difficult to diagnose or to distinguish from other tumors due to its atypical clinical presentation and nonspecific radiological features.H...Inflammatory myofibroblastic tumor(IMT)of the biliary tract is rare,and often difficult to diagnose or to distinguish from other tumors due to its atypical clinical presentation and nonspecific radiological features.Histologically,IMTs are(myo)fibroblastic neoplasms with a prominent inflammatory infiltrate.They are characterized by receptor tyrosine kinase gene rearrangements,most often involving an anaplastic lymphoma kinase(ALK)translocation.The final diagnosis of IMT depends on histopathology and immunohistochemical examination.In this manuscript,we provide a clinical and morphomolecular overview of IMT and the difficulties that may arise in using immunohistochemical and molecular techniques in diagnosing IMT.展开更多
Differential diagnosis of pediatric vascular liver tumors can be challenging due to inconsistent nomenclature,histologic overlap and the rarity of some entities.Here we give an up-to-date overview of the most importan...Differential diagnosis of pediatric vascular liver tumors can be challenging due to inconsistent nomenclature,histologic overlap and the rarity of some entities.Here we give an up-to-date overview of the most important entities.We discuss the clinic,histology and pathophysiology of hepatic congenital and infantile heman-gioma,hepatic epithelioid hemangioendothelioma and hepatic angio-sarcoma.展开更多
Biallelic loss-of-function variants in ATM (Ataxia Telangiectasia Mutated) cause Ataxia Telangiectasia (AT), a rare disorder associated with cerebellar degeneration and ataxia, cancer predisposition, infertility, grow...Biallelic loss-of-function variants in ATM (Ataxia Telangiectasia Mutated) cause Ataxia Telangiectasia (AT), a rare disorder associated with cerebellar degeneration and ataxia, cancer predisposition, infertility, growth retardation, etc. ATM is a phosphoinositide 3-kinase-related kinase (PIKK) with a role in DNA repair and maintenance of genome stability. Studying a multisystem genetic disease like AT requires animal models to ascertain its pathogenesis at the level of tissues, organs and the organism. Due to its small size, cheap maintenance, large progeny, rapid development and initial transparency, zebrafish (Danio rerio) is an increasingly popular vertebrate model organism, suitable for genetic modifications and large-scale in vivo therapeutic screens as embryos are chemically permeable to small compounds. Currently, no zebrafish model for AT exists.1 We generated atm knock-outs through CRIPSR-Cas9 mutagenesis. We show that atm conserved its function as a tumour suppressor gene and is involved in gametogenesis and fertility. Therefore, this mutant is of great value for further studies investigating the role of atm in reproduction and tumorigenesis.展开更多
文摘Inflammatory myofibroblastic tumor(IMT)of the biliary tract is rare,and often difficult to diagnose or to distinguish from other tumors due to its atypical clinical presentation and nonspecific radiological features.Histologically,IMTs are(myo)fibroblastic neoplasms with a prominent inflammatory infiltrate.They are characterized by receptor tyrosine kinase gene rearrangements,most often involving an anaplastic lymphoma kinase(ALK)translocation.The final diagnosis of IMT depends on histopathology and immunohistochemical examination.In this manuscript,we provide a clinical and morphomolecular overview of IMT and the difficulties that may arise in using immunohistochemical and molecular techniques in diagnosing IMT.
文摘Differential diagnosis of pediatric vascular liver tumors can be challenging due to inconsistent nomenclature,histologic overlap and the rarity of some entities.Here we give an up-to-date overview of the most important entities.We discuss the clinic,histology and pathophysiology of hepatic congenital and infantile heman-gioma,hepatic epithelioid hemangioendothelioma and hepatic angio-sarcoma.
基金supported by‘Kom op Tegen Kanker–Emmanuel Van der Schueren’(No.365M02318)by‘UGent-Bijzonder OnderzoeksFonds’(No.BOF15 GOA/011).
文摘Biallelic loss-of-function variants in ATM (Ataxia Telangiectasia Mutated) cause Ataxia Telangiectasia (AT), a rare disorder associated with cerebellar degeneration and ataxia, cancer predisposition, infertility, growth retardation, etc. ATM is a phosphoinositide 3-kinase-related kinase (PIKK) with a role in DNA repair and maintenance of genome stability. Studying a multisystem genetic disease like AT requires animal models to ascertain its pathogenesis at the level of tissues, organs and the organism. Due to its small size, cheap maintenance, large progeny, rapid development and initial transparency, zebrafish (Danio rerio) is an increasingly popular vertebrate model organism, suitable for genetic modifications and large-scale in vivo therapeutic screens as embryos are chemically permeable to small compounds. Currently, no zebrafish model for AT exists.1 We generated atm knock-outs through CRIPSR-Cas9 mutagenesis. We show that atm conserved its function as a tumour suppressor gene and is involved in gametogenesis and fertility. Therefore, this mutant is of great value for further studies investigating the role of atm in reproduction and tumorigenesis.
