{Reference Type}: Case Reports
{Title}: Abnormalities in C-type lectin-like receptor 2 in a patient with Gorham-Stout disease: the first case report.
{Author}: Oishi S;Tsukiji N;Segawa T;Takano K;Hasuda N;Suzuki-Inoue K;
{Journal}: Res Pract Thromb Haemost
{Volume}: 8
{Issue}: 1
{Year}: 2024 Jan
{Factor}: 5.953
{DOI}: 10.1016/j.rpth.2023.102273
{Abstract}: <B>UNASSIGNED: </B>Gorham-Stout disease (GSD) is a form of lymphangiomatosis of unknown etiology, characterized by abnormal distribution of lymphatic vessels. Platelets and lymphangiogenesis are closely related via C-type lectin-like receptor 2 (CLEC-2)/podoplanin.<BR><B>UNASSIGNED: </B>Despite similarities between abnormal lymphatic vessels in CLEC-2-deficient mice and patients with GSD, whether CLEC-2 on platelets is involved in GSD pathogenesis is unknown.<BR><B>UNASSIGNED: </B>We examined CLEC-2 expression in platelets of a patient with lethal GSD. Most of the patient's platelets expressed aberrant CLEC-2 that was not detectable by certain monoclonal antibodies for human CLEC-2. Further, this population was not activated by a CLEC-2-activating snake venom, rhodocytin. Possible causes of abnormal CLEC-2 including anti-CLEC-2 autoantibodies, podoplanin binding to CLEC-2, and pathogenic CLEC1B gene alteration were excluded.<BR><B>UNASSIGNED: </B>We believe that this is the first report of a patient with structurally and functionally abnormal CLEC-2. CLEC-2 abnormality may be associated with dysregulated lymphangiogenesis in GSD.