ISSVA classification of vascular anomalies and molecular biology

K Kunimoto, Y Yamamoto, M Jinnin - International journal of molecular …, 2022 - mdpi.com
Vascular anomalies include various diseases, which are classified into two types according
to the International Society for the Study of Vascular Anomalies (ISSVA) classification …

The 2020 WHO classification of tumors of soft tissue: selected changes and new entities

JH Choi, JY Ro - Advances in Anatomic Pathology, 2021 - journals.lww.com
Soft tissue tumors are a relatively rare and diagnostically challenging group of neoplasms
that can have varying lines of differentiation. Accurate diagnosis is important for appropriate …

Genetic basis and therapies for vascular anomalies

A Queisser, E Seront, LM Boon, M Vikkula - Circulation research, 2021 - Am Heart Assoc
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

Updates from the 2020 World Health Organization classification of soft tissue and bone tumours

WJ Anderson, LA Doyle - Histopathology, 2021 - Wiley Online Library
The fifth edition of the World Health Organization (WHO) classification of soft tissue and
bone tumours was published in May 2020. This 'Blue Book', which is also available digitally …

Insights into genetics, human biology and disease gleaned from family based genomic studies

JE Posey, AH O'Donnell-Luria, JX Chong, T Harel… - Genetics in …, 2019 - nature.com
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Kaposiform hemangioendothelioma: current knowledge and future perspectives

Y Ji, S Chen, K Yang, C Xia, L Li - Orphanet journal of rare diseases, 2020 - Springer
Kaposiform hemangioendothelioma (KHE) is a rare vascular neoplasm with high morbidity
and mortality. The initiating mechanism during the pathogenesis of KHE has yet to be …

Somatic MAP2K1 mutations are associated with extracranial arteriovenous malformation

JA Couto, AY Huang, DJ Konczyk, JA Goss… - The American Journal of …, 2017 - cell.com
Arteriovenous malformation (AVM) is a fast-flow, congenital vascular anomaly that may arise
anywhere in the body. AVMs typically progress, causing destruction of surrounding tissue …

New and emerging targeted therapies for vascular malformations

A Van Damme, E Seront, V Dekeuleneer… - American journal of …, 2020 - Springer
Vascular malformations are inborn errors of vascular morphogenesis and consist of
localized networks of abnormal blood and/or lymphatic vessels with weak endothelial cell …

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis

SF Barclay, KW Inman, VL Luks, JB McIntyre… - Genetics in …, 2019 - nature.com
Purpose Kaposiform lymphangiomatosis (KLA) is a rare, frequently aggressive, systemic
disorder of the lymphatic vasculature, occurring primarily in children. Even with multimodal …

Vascular anomalies: diagnosis of complicated anomalies and new medical treatment options

DM Adams, KW Ricci - Hematology/Oncology Clinics, 2019 - hemonc.theclinics.com
Vascular anomalies, characterized by the abnormal development or growth of blood and/or
lymphatic vessels, comprise a spectrum of diseases that have a wide range of complications …