期刊
COLD SPRING HARBOR MOLECULAR CASE STUDIES
卷 6, 期 1, 页码 -出版社
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/mcs.a004549
关键词
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资金
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [ZIAHG200388] Funding Source: NIH RePORTER
A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the AKT1 c.49G> A p.(E17K) variant had asymmetric overgrowth of the right frontal and facial bones, asymmetric spinal overgrowth with thoracolumbar scoliosis, dilatation of the inferior vena cava, testicular cystadenoma, bilateral knee deformities, macrodactyly, and apparent intellectual disability. Miransertib (ARQ 092) is an oral, allosteric, selective pan-AKT inhibitor initially developed for cancer therapeutics, now being evaluated for the treatment of PS. After baseline evaluation, the patient started unblinded treatment of 10 mg oral miransertib daily (similar to 5 mg/m(2)/day), escalated to 30 mg daily (similar to 15 mg/m(2)/day), and then to 50 mg daily (similar to 25 mg/m(2)/day) after 3 mo of treatment. Adverse events included dry mouth, one episode of gingivostomatitis, and loose, painful dentition due to preexisting periodontal disease, all of which resolved spontaneously. After 11 mo of treatment, the patient reported improved general well-being, increased mobility of the ankle, spine, and hands, a subjective decrease in size of the right facial bone overgrowth, and reduced areas of cerebriform connective tissue nevi on the soles. Whole-body MRI findings were stable without apparent disease progression. We conclude that 1 yr of treatment with miransertib was beneficial in this case.
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