Abstract:
BACKGROUND:The term "intramuscular hemangioma capillary type" (IHCT) refers to a fast-flow vascular lesion that is classified as a tumor, although its phenotype overlaps with arteriovenous malformation (AVM). The purpose of this study was to identify somatic mutations in IHCT. METHODS:Affected tissue specimens were obtained during a clinically indicated procedure. The diagnosis of IHCT was based on history, physical examination, imaging and histopathology. Because somatic mutations in cancer-associated genes can cause vascular malformations, we sequenced exons from 446 cancer-related genes in DNA from 7 IHCT specimens. We then performed mutation-specific droplet digital PCR (ddPCR) to independently test for the presence of a somatic mutation found by sequencing and to screen one additional IHCT sample. RESULTS:We detected somatic mutations in 6 of 8 IHCT specimens. Four specimens had a mutation in MAP2K1 (p.Q58_E62del, p.P105_I107delinsL, p.Q56P) and 2 specimens had mutations in KRAS (p.K5E and p.G12D, p.G12D and p.Q22R). Mutant allele frequencies detected by sequencing and confirmed by ddPCR ranged from 2 to 15%. CONCLUSIONS:IHCT lesions are phenotypically similar to AVMs and contain the same somatic MAP2K1 or KRAS mutations, suggesting that IHCT is on the AVM spectrum. We propose calling this lesion "intramuscular fast-flow vascular anomaly."
journal_name
Angiogenesisjournal_title
Angiogenesisauthors
Goss JA,Konczyk DJ,Smits PJ,Kozakewich HPW,Alomari AI,Al-Ibraheemi A,Taghinia AH,Dickie BH,Adams DM,Fishman SJ,Mulliken JB,Warman ML,Greene AKdoi
10.1007/s10456-019-09678-wsubject
Has Abstractpub_date
2019-11-01 00:00:00pages
547-552issue
4eissn
0969-6970issn
1573-7209pii
10.1007/s10456-019-09678-wjournal_volume
22pub_type
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