Lymphatic malformations: genetics, mechanisms and therapeutic strategies

T Mäkinen, LM Boon, M Vikkula, K Alitalo - Circulation research, 2021 - Am Heart Assoc
Lymphatic vessels maintain tissue fluid homeostasis by returning to blood circulation
interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking …

The emerging importance of lymphatics in health and disease: an NIH workshop report

BJ Mehrara, AJ Radtke, GJ Randolph… - The Journal of …, 2023 - Am Soc Clin Investig
The lymphatic system (LS) is composed of lymphoid organs and a network of vessels that
transport interstitial fluid, antigens, lipids, cholesterol, immune cells, and other materials in …

Genomic profiling informs diagnoses and treatment in vascular anomalies

D Li, SE Sheppard, ME March, MR Battig, LF Surrey… - Nature medicine, 2023 - nature.com
Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and
can be life-threatening. Although molecularly targeted therapies can be life-saving …

[HTML][HTML] KRAS-driven model of Gorham-Stout disease effectively treated with trametinib

N Homayun-Sepehr, AL McCarter, R Helaers… - JCI insight, 2021 - ncbi.nlm.nih.gov
Gorham-Stout disease (GSD) is a sporadically occurring lymphatic disorder. Patients with
GSD develop ectopic lymphatics in bone, gradually lose bone, and can have life-threatening …

[HTML][HTML] Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

SE Sheppard, ME March, C Seiler, LS Matsuoka… - JCI insight, 2023 - ncbi.nlm.nih.gov
Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the
lymphatics can result in debilitating and life-threatening disease with limited treatment …

Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition

G Chowers, G Abebe-Campino, H Golan, A Vivante… - Pediatric …, 2023 - nature.com
Background Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly
involving most commonly the mediastinum, lung, skin and bones with few effective …

Lymphatic malformations: mechanistic insights and evolving therapeutic frontiers

M Petkova, I Ferby, T Mäkinen - The Journal of Clinical …, 2024 - Am Soc Clin Investig
The lymphatic vascular system is gaining recognition for its multifaceted role and broad
pathological significance. Once perceived as a mere conduit for interstitial fluid and immune …

Trametinib for refractory chylous effusions and systemic complications in children with Noonan syndrome

TA Nakano, AW Rankin, A Annam… - The Journal of …, 2022 - Elsevier
Objective To evaluate the effect of the RAS-MAPK pathway inhibitor trametinib on medically
refractory chylous effusions in 3 hospitalized patients with Noonan syndrome. Study design …

New prospectives on treatment opportunities in RASopathies

BD Gelb, ME Yohe, C Wolf… - American Journal of …, 2022 - Wiley Online Library
The RASopathies are a group of clinically defined developmental syndromes caused by
germline variants of the RAS/mitogen‐activated protein (MAPK) cascade. The prototypic …

Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in …

S Nakhaei-Rad, F Haghighi, F Bazgir… - Communications …, 2023 - nature.com
Noonan syndrome (NS), the most common among RASopathies, is caused by germline
variants in genes encoding components of the RAS-MAPK pathway. Distinct variants …