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Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas : a study of 19 cases

(2017) GENES CHROMOSOMES & CANCER. 56(12). p.855-860
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Abstract
Spindle cell hemangioma (SCH) is a distinct vascular soft-tissue lesion characterized by cavernous blood vessels and a spindle cell component mainly occurring in the distal extremities of young adults. The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome. However, based on mosaicism and accordingly a low percentage of lesional cells harboring a mutant allele, detection can be challenging. We tested 19 sporadic SCHs by Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), conventional next generation sequencing (NGS), and NGS using a single molecule molecular inversion probes (smMIP)-based library preparation to compare their diagnostic value. Out of 10 cases tested by Sanger sequencing and 2 analyzed using MLPA, 4 and 1, respectively, revealed a mutation in IDH1 (p.R132C). The 7 remaining negative cases and additional 6 cases were investigated using smMIP/NGS, showing hot spot mutations in IDH1 (p.R132C) (8 cases) and IDH2 (3 cases; twice p.R172S and once p.R172G, respectively). One case was negative. Owing to insufficient DNA quality and insufficient coverage, 2 cases were excluded. In total, in 16 out of 17 cases successfully tested, an IDH1/2 mutation was found. Given that IDH1/2 mutations were absent in 161 other vascular lesions tested by smMIP/NGS, the mutation can be considered as highly specific for SCH.
Keywords
SOMATIC MUTATIONS, MAFFUCCI SYNDROME, IDH2 MUTATIONS, OLLIER DISEASE, HEMANGIOENDOTHELIOMA, MALFORMATIONS, PIK3CA, TUMORS

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Chicago
ten Broek, Roel W, Elise M Bekers, Wendy WJ de Leng, Eric Strengman, Bastiaan BJ Tops, Heinz Kutzner, Jan Willem Leeuwis, et al. 2017. “Mutational Analysis Using Sanger and Next Generation Sequencing in Sporadic Spindle Cell Hemangiomas : a Study of 19 Cases.” Genes Chromosomes & Cancer 56 (12): 855–860.
APA
ten Broek, R. W., Bekers, E. M., de Leng, W. W., Strengman, E., Tops, B. B., Kutzner, H., Leeuwis, J. W., et al. (2017). Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas : a study of 19 cases. GENES CHROMOSOMES & CANCER, 56(12), 855–860.
Vancouver
1.
ten Broek RW, Bekers EM, de Leng WW, Strengman E, Tops BB, Kutzner H, et al. Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas : a study of 19 cases. GENES CHROMOSOMES & CANCER. 2017;56(12):855–60.
MLA
ten Broek, Roel W, Elise M Bekers, Wendy WJ de Leng, et al. “Mutational Analysis Using Sanger and Next Generation Sequencing in Sporadic Spindle Cell Hemangiomas : a Study of 19 Cases.” GENES CHROMOSOMES & CANCER 56.12 (2017): 855–860. Print.
@article{8530879,
  abstract     = {Spindle cell hemangioma (SCH) is a distinct vascular soft-tissue lesion characterized by cavernous blood vessels and a spindle cell component mainly occurring in the distal extremities of young adults. The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome. However, based on mosaicism and accordingly a low percentage of lesional cells harboring a mutant allele, detection can be challenging. We tested 19 sporadic SCHs by Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), conventional next generation sequencing (NGS), and NGS using a single molecule molecular inversion probes (smMIP)-based library preparation to compare their diagnostic value. Out of 10 cases tested by Sanger sequencing and 2 analyzed using MLPA, 4 and 1, respectively, revealed a mutation in IDH1 (p.R132C). The 7 remaining negative cases and additional 6 cases were investigated using smMIP/NGS, showing hot spot mutations in IDH1 (p.R132C) (8 cases) and IDH2 (3 cases; twice p.R172S and once p.R172G, respectively). One case was negative. Owing to insufficient DNA quality and insufficient coverage, 2 cases were excluded. In total, in 16 out of 17 cases successfully tested, an IDH1/2 mutation was found. Given that IDH1/2 mutations were absent in 161 other vascular lesions tested by smMIP/NGS, the mutation can be considered as highly specific for SCH.},
  author       = {ten Broek, Roel W and Bekers, Elise M and de Leng, Wendy WJ and Strengman, Eric and Tops, Bastiaan BJ and Kutzner, Heinz and Leeuwis, Jan Willem and van Gorp, Joost M and Creytens, David and Mentzel, Thomas and van Diest, Paul J and Eijkelenboom, Astrid and Flucke, Uta},
  issn         = {1045-2257},
  journal      = {GENES CHROMOSOMES \& CANCER},
  keyword      = {SOMATIC MUTATIONS,MAFFUCCI SYNDROME,IDH2 MUTATIONS,OLLIER DISEASE,HEMANGIOENDOTHELIOMA,MALFORMATIONS,PIK3CA,TUMORS},
  language     = {eng},
  number       = {12},
  pages        = {855--860},
  title        = {Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas : a study of 19 cases},
  url          = {http://dx.doi.org/10.1002/gcc.22501},
  volume       = {56},
  year         = {2017},
}

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