Kaposiform hemangioendothelioma and tufted angioma - (epi)genetic analysis including genome-wide methylation profiling
Kaposiform hemangioendothelioma (KHE) is a locally aggressive vascular condition of childhood and is clinicopathologically related to tufted angioma (TA), a benign skin lesion. Due to their rarity molecular data are scarce. We investigated 7 KHE and 3 TA by comprehensive mutational analysis and geno...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2020
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| In: |
Annals of diagnostic pathology
Year: 2019, Volume: 44, Pages: 1-5 |
| ISSN: | 1532-8198 |
| DOI: | 10.1016/j.anndiagpath.2019.151434 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.anndiagpath.2019.151434 Verlag, lizenzpflichtig, Volltext: http://www.sciencedirect.com/science/article/pii/S1092913419303636 
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| Author Notes: | Roel W. Ten Broek, Christian Koelsche, Astrid Eijkelenboom, Thomas Mentzel, David Creytens, Christian Vokuhl, Joost M. van Gorp, Yvonne M. Versleijen-Jonkers, Carine J. van der Vleuten, Patrick Kemmeren, Ellen van de Geer, Andreas von Deimling, Uta Flucke |
| Summary: | Kaposiform hemangioendothelioma (KHE) is a locally aggressive vascular condition of childhood and is clinicopathologically related to tufted angioma (TA), a benign skin lesion. Due to their rarity molecular data are scarce. We investigated 7 KHE and 3 TA by comprehensive mutational analysis and genome-wide methylation profiling and compared the clustering, also with vascular malformations. Lesions were from 7 females and 3 males. The age range was 2 months to 9 years with a median of 10 months. KHEs arose in the soft tissue of the thigh (n = 2), retroperitoneum (n = 1), thoracal/abdominal (n = 1), supraclavicular (n = 1) and neck (n = 1). One patient presented with multiple lesions without further information. Two patients developed a Kasabach-Merritt phenomenon. TAs originated in the skin of the shoulder (n = 2) and nose/forehead (n = 1). Of the 5 KHEs and 2 TAs investigated by DNA sequencing, one TA showed a hot spot mutation in NRAS, and one KHE a mutation in RAD50. Unsupervised hierarchical clustering analysis indicated a common methylation pattern of KHEs and TAs, which separated from the homogeneous methylation pattern of vascular malformations. In conclusion, methylation profiling provides further evidence for KHEs and TAs potentially forming a spectrum of one entity. Using next generation sequencing, heterogeneous mutations were found in a subset of cases (2/7) without the presence of GNA14 mutations, previously reported in KHE and TA. |
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| Item Description: | Available online 10 December 2019 Gesehen am 24.06.2020 |
| Physical Description: | Online Resource |
| ISSN: | 1532-8198 |
| DOI: | 10.1016/j.anndiagpath.2019.151434 |