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 GE32 UZGent 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 | 20181113145217.0 | ||
| 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 | ||
| 700 | 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 GE32 u UZGent 0 000131371645 0 802001346013 9 9E10BFB8-1EEF-11E2-A298-0C6810BDE39D | ||
| 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 | ||
| Z30 | x GE 1 GE22 | ||
| 922 | a UGENT-GE | ||
All data below are available with an Open Data Commons Open Database License. You are free to copy, distribute and use the database; to produce works from the database; to modify, transform and build upon the database. As long as you attribute the data sets to the source, publish your adapted database with ODbL license, and keep the dataset open (don't use technical measures such as DRM to restrict access to the database).
The datasets are also available as weekly exports.
Published 2019 Universiteitsbibliotheek Gent Disclaimer