TY - JOUR UR - http://lib.ugent.be/catalog/pug01:8530879 ID - pug01:8530879 LA - eng TI - Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas : a study of 19 cases PY - 2017 JO - (2017) GENES CHROMOSOMES & CANCER SN - 1045-2257 PB - 2017 AU - ten Broek, Roel W AU - Bekers, Elise M AU - de Leng, Wendy WJ AU - Strengman, Eric AU - Tops, Bastiaan BJ AU - Kutzner, Heinz AU - Leeuwis, Jan Willem AU - van Gorp, Joost M AU - Creytens, David GE22 000131371645 AU - Mentzel, Thomas AU - van Diest, Paul J AU - Eijkelenboom, Astrid AU - Flucke, Uta AB - 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. ER -Download RIS file
| 00000nam^a2200301^i^4500 | |||
| 001 | 8530879 | ||
| 005 | 20180816080040.0 | ||
| 008 | 170911s2017------------------------eng-- | ||
| 022 | a 1045-2257 | ||
| 024 | a 000413045500005 2 wos | ||
| 024 | a 1854/LU-8530879 2 handle | ||
| 024 | a 10.1002/gcc.22501 2 doi | ||
| 040 | a UGent | ||
| 245 | a Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas : a study of 19 cases | ||
| 260 | c 2017 | ||
| 520 | a 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. | ||
| 598 | a A1 | ||
| 100 | a ten Broek, Roel W | ||
| 700 | a Bekers, Elise M | ||
| 700 | a de Leng, Wendy WJ | ||
| 700 | a Strengman, Eric | ||
| 700 | a Tops, Bastiaan BJ | ||
| 700 | a Kutzner, Heinz | ||
| 700 | a Leeuwis, Jan Willem | ||
| 700 | a van Gorp, Joost M | ||
| 700 | a Creytens, David u GE22 0 000131371645 0 802001346013 | ||
| 700 | a Mentzel, Thomas | ||
| 700 | a van Diest, Paul J | ||
| 700 | a Eijkelenboom, Astrid | ||
| 700 | a Flucke, Uta | ||
| 650 | a Medicine and Health Sciences | ||
| 650 | a Biology and Life Sciences | ||
| 653 | a SOMATIC MUTATIONS | ||
| 653 | a MAFFUCCI SYNDROME | ||
| 653 | a IDH2 MUTATIONS | ||
| 653 | a OLLIER DISEASE | ||
| 653 | a HEMANGIOENDOTHELIOMA | ||
| 653 | a MALFORMATIONS | ||
| 653 | a PIK3CA | ||
| 653 | a TUMORS | ||
| 773 | t GENES CHROMOSOMES & CANCER g Gene Chromosomes Cancer. 2017. 56 (12) p.855-860 q 56:12<855 | ||
| 856 | 3 Full Text u https://biblio.ugent.be/publication/8530879/file/8530880 z [ugent] y Broek_et_al-2017-Genes%2c_Chromosomes_and_Cancer.pdf | ||
| 920 | a article | ||
| 852 | x GE b GE22 | ||
| 922 | a UGENT-GE | ||
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