LETTER TO THE EDITOR normalization of platelet levels and clinical improvement in adult patients with refractory aTTP. 3,7 Caplacizumab recognizes the vWF A1 domain and inhibits the vWF-platelets glycoprotein 1b-alpha interaction, 3,7 which prevents platelet-induced thrombus formation and increases platelet levels and decreases hemolysis of red blood cells. In our patient, the addition of caplacizumab played a major role in increasing platelets and decreasing symptoms without adverse effects. The patient has been off caplacizumab for 1 year with normal platelet counts and continues treatment for SLE. While aTTP is rare in children, prompt recognition and treatment can be lifesaving. Safety and efficacy of caplacizumab have not been tested in pediatric population; however, early use should be considered for patients who have suboptimal response to steroids and plasma exchange.
In this retrospective study, we examined the prevalence and spectrum of
germline variants in cancer predisposition genes in 38 children and
young adults with melanocytic lesions who underwent germline genetic
testing at St. Jude Children’s Research Hospital. Diagnoses included
malignant melanoma (n=19; 50%), spitzoid melanoma (n=14; 37%), and
uveal melanoma (n=5; 13%). Five patients (13%) harbored
pathogenic variants: one with bi-allelic PMS2, and one each with
heterozygous 17q21.31 deletion, TP53,BRIP1, and
ATM pathogenic In this convenience
cohort, 13% of children and young adults with melanoma who underwent
germline testing harbored an underlying cancer predisposition syndrome.
In this retrospective study, we examined the prevalence and spectrum of germline variants in selected cancer predisposition genes in 38 children and young adults with melanocytic lesions at St. Jude Children's Research Hospital. Diagnoses included malignant melanoma (n = 16; 42%), spitzoid melanoma (n = 16; 42%), uveal melanoma (n = 5; 13%), and malignant melanoma arising in a giant congenital melanocytic nevus (n = 1; 3%). Six patients (15.8%) harbored pathogenic germline variants: one with bi‐allelic PMS2 variants, one with a heterozygous 17q21.31 deletion, and one each with a pathogenic variant in TP53, BRIP1, ATM, or AXIN2. Overall, 15.8% of patients harbored a cancer‐predisposing genetic variant.
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