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Verrucous Hemangioma or Verrucous Venous Malformation? Towards a Classification Based on Genetic Analysis
FR - Hemangioma verrucoso o malformación venosa verrucosa? Hacia una clasificación asentada en el estudio genético
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"apellidos" => "de la Riva" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0001731016000776" "doi" => "10.1016/j.ad.2016.02.002" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731016000776?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219016300245?idApp=UINPBA000044" "url" => "/15782190/0000010700000005/v2_201703310310/S1578219016300245/v2_201703310310/en/main.assets" ] "en" => array:14 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Resident's Forum</span>" "titulo" => "Verrucous Hemangioma or Verrucous Venous Malformation? Towards a Classification Based on Genetic Analysis" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "427" "paginaFinal" => "428" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "N. Knöpfel, P.H. Hoeger" "autores" => array:2 [ 0 => array:4 [ "nombre" => "N." "apellidos" => "Knöpfel" "email" => array:1 [ 0 => "nicole.knopfel@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "P.H." "apellidos" => "Hoeger" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Dermatología, Hospital Universitari Son Espases, Palma de Mallorca, Islas Baleares, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Pediatría y Dermatología Pediátrica, Katholische Kinderkrankenhaus Wilhelmstift, Hamburg, Alemania" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "FR - Hemangioma verrucoso o malformación venosa verrucosa? Hacia una clasificación asentada en el estudio genético" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">To optimize investigation in the field of vascular anomalies, it is essential to have an accurate classification system based on a universal, standardized nomenclature. In 1992, the International Society for the Study of Vascular Anomalies (ISSVA) was founded with the goal of standardizing knowledge of vascular lesions among different medical specialists (pediatricians, dermatologists, vascular surgeons, plastic surgeons, radiologists, pathologists, etc.), and its work has contributed to extraordinary advances in scientific understanding in this field in recent years. The ISSVA classification was updated at the April 2014 General Assembly in Melbourne, Australia, but it is recognized in this version that there are still unclassififed vascular anomalies. One such example is verrucous hemangioma (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>). Imperial and Helwig<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> initially considered verrucous hemangioma to be a vascular malformation involving the subcutaneous tissue with reactive epidermal acanthosis and hyperkeratosis. Its clinical characteristics are similar to those seen in vascular malformations, explaining why certain authors have proposed the terms <span class="elsevierStyleItalic">hyperkeratotic vascular malformation</span> and <span class="elsevierStyleItalic">verrucous malformation</span> to describe this lesion. Verrucous hemangioma, however, has also been classified as a hemangioma, as it has thick-walled vessels, a multilamellated basement membrane, and shows positive staining for WT1 (Wilms tumor 1 protein) and GLUT1 (glucose transporter protein).<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">2,3</span></a></p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">A group of researchers at the prestigious Boston Children's Hospital of Harvard Medical School recently reported the discovery of a somatic mitogen-activated protein kinase kinase kinase (MAP3K3) missense mutation responsible for verrucous hemangioma, and concluded that this genetic finding strongly supports that this lesion is better designated as a venous malformation.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a> The authors performed whole-exome sequencing in search of somatic mutations affecting the same gene in verrucous hemangioma specimens from 6 unrelated individuals. They found a MAP3K3 missense variant (c.1323C<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>G [p.Iso441Met]), later validated through droplet digital polymerase chain reaction, in 3 of these individuals. Using DNA analysis, they also found the same mutation in 3 out of 4 specimens taken from patients with verrucous hemangioma. This mutation was not observed in the healthy tissue or saliva of affected individuals or in other vascular anomalies, including hemangiomas, capillary malformations, lymphatic malformations, or arteriovenous malformations. The results of this group of researchers are supported by previous studies on mice with global and conditional knockout alleles of MAP3K3 that have shown the implication of this gene in the proliferation and survival of endothelial cells during embryo development.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> MAP3K3 is involved in the angiopoietin 1 (ANG1) and tunica internal endothelial cell kinase (TIE2) signaling pathway, and the TIE2 pathway has been implicated in both sporadic venous malformations and venous malformations with autosomal dominant inheritance.</p><p id="par0015" class="elsevierStylePara elsevierViewall">In conclusion, the identification of a genetic mutation downstream of the Ang1-TIE2 pathway constitutes a turning point in our understanding of an anomaly that has generated much confusion in the literature. The detection of this mutation confirms that verrucous hemangioma has both clinical and genetic features consistent with a venous malformation, despite the fact that it shows positive staining for WT1 and GLUT1. It also opens the doors for targeted therapy.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "PalabrasClave" => array:1 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec819512" "palabras" => array:3 [ 0 => "Verrucous hemangioma" 1 => "Verrucous venous malformation" 2 => "<span class="elsevierStyleItalic">MAP3K3</span>" ] ] ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0010">Please cite this article as: Knöpfel N, Hoeger P. FR - Hemangioma verrucoso o malformación venosa verrucosa? Hacia una clasificación asentada en el estudio genético. Actas Dermosifiliogr. 2016;107:427–428.</p>" ] ] "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:3 [ "leyenda" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Abbreviations: GLUT1, glucose transporter protein 1; WT1, Wilms tumor 1.</p>" "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="" valign="top" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Vascular Malformations \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Hemangiomas \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Verrucous hemangioma \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Manifestation \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Mostly at birth \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Mostly after birth \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Mostly at birth or in early childhood \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Growth pattern \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Proportional to individual's growth \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Exponential and transient \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Proportional to individual's growth. Appearance of hyperkeratosis and satellite lesions with time \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Spontaneous regression \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Endothelial proliferation \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Immunohistochemical markers \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Negative for WT1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Positive for WT1<br>Positive for GLUT1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Positive for WT1<br>Positive for GLUT1<br>Negative for D2-40<a class="elsevierStyleCrossRef" href="#tblfn0005"><span class="elsevierStyleSup">a</span></a><br>Negative for Prox1<a class="elsevierStyleCrossRef" href="#tblfn0005"><span class="elsevierStyleSup">a</span></a> \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1383315.png" ] ] ] "notaPie" => array:1 [ 0 => array:3 [ "identificador" => "tblfn0005" "etiqueta" => "a" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Lymphatic vessel marker.</p>" ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Characteristics of Verrucous Hemangioma Alongside Distinguishing Characteristics of Vascular Malformations and Vascular Tumors/Hemangiomas.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Verrucous hemangioma. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 11 | 14 | 25 |
| 2024 October | 100 | 46 | 146 |
| 2024 September | 101 | 40 | 141 |
| 2024 August | 118 | 42 | 160 |
| 2024 July | 154 | 51 | 205 |
| 2024 June | 108 | 37 | 145 |
| 2024 May | 104 | 40 | 144 |
| 2024 April | 84 | 27 | 111 |
| 2024 March | 92 | 38 | 130 |
| 2024 February | 89 | 34 | 123 |
| 2024 January | 76 | 36 | 112 |
| 2023 December | 63 | 22 | 85 |
| 2023 November | 95 | 39 | 134 |
| 2023 October | 103 | 30 | 133 |
| 2023 September | 73 | 35 | 108 |
| 2023 August | 75 | 23 | 98 |
| 2023 July | 89 | 34 | 123 |
| 2023 June | 67 | 26 | 93 |
| 2023 May | 89 | 26 | 115 |
| 2023 April | 54 | 18 | 72 |
| 2023 March | 64 | 27 | 91 |
| 2023 February | 62 | 35 | 97 |
| 2023 January | 66 | 28 | 94 |
| 2022 December | 65 | 39 | 104 |
| 2022 November | 29 | 30 | 59 |
| 2022 October | 40 | 27 | 67 |
| 2022 September | 29 | 37 | 66 |
| 2022 August | 45 | 51 | 96 |
| 2022 July | 29 | 53 | 82 |
| 2022 June | 19 | 27 | 46 |
| 2022 May | 97 | 32 | 129 |
| 2022 April | 68 | 30 | 98 |
| 2022 March | 83 | 61 | 144 |
| 2022 February | 57 | 31 | 88 |
| 2022 January | 69 | 34 | 103 |
| 2021 December | 56 | 39 | 95 |
| 2021 November | 77 | 56 | 133 |
| 2021 October | 72 | 50 | 122 |
| 2021 September | 65 | 57 | 122 |
| 2021 August | 62 | 33 | 95 |
| 2021 July | 60 | 46 | 106 |
| 2021 June | 80 | 37 | 117 |
| 2021 May | 73 | 49 | 122 |
| 2021 April | 149 | 56 | 205 |
| 2021 March | 114 | 37 | 151 |
| 2021 February | 80 | 36 | 116 |
| 2021 January | 53 | 27 | 80 |
| 2020 December | 38 | 18 | 56 |
| 2020 November | 53 | 27 | 80 |
| 2020 October | 43 | 22 | 65 |
| 2020 September | 55 | 12 | 67 |
| 2020 August | 40 | 22 | 62 |
| 2020 July | 52 | 25 | 77 |
| 2020 June | 35 | 33 | 68 |
| 2020 May | 30 | 16 | 46 |
| 2020 April | 34 | 29 | 63 |
| 2020 March | 21 | 23 | 44 |
| 2020 February | 7 | 2 | 9 |
| 2020 January | 4 | 0 | 4 |
| 2019 December | 8 | 0 | 8 |
| 2019 November | 4 | 0 | 4 |
| 2019 September | 8 | 0 | 8 |
| 2019 August | 4 | 0 | 4 |
| 2019 July | 4 | 0 | 4 |
| 2019 June | 6 | 0 | 6 |
| 2019 May | 10 | 2 | 12 |
| 2019 April | 2 | 1 | 3 |
| 2019 March | 2 | 3 | 5 |
| 2019 February | 1 | 0 | 1 |
| 2019 January | 2 | 0 | 2 |
| 2018 December | 2 | 0 | 2 |
| 2018 November | 4 | 0 | 4 |
| 2018 October | 11 | 0 | 11 |
| 2018 September | 10 | 0 | 10 |
| 2018 April | 0 | 1 | 1 |
| 2018 March | 0 | 11 | 11 |
| 2018 February | 49 | 18 | 67 |
| 2018 January | 51 | 19 | 70 |
| 2017 December | 76 | 8 | 84 |
| 2017 November | 48 | 16 | 64 |
| 2017 October | 31 | 14 | 45 |
| 2017 September | 38 | 19 | 57 |
| 2017 August | 41 | 26 | 67 |
| 2017 July | 18 | 16 | 34 |
| 2017 June | 35 | 32 | 67 |
| 2017 May | 22 | 14 | 36 |
| 2017 April | 21 | 27 | 48 |
| 2017 March | 17 | 38 | 55 |
| 2017 February | 22 | 23 | 45 |
| 2017 January | 21 | 14 | 35 |
| 2016 December | 36 | 33 | 69 |
| 2016 November | 35 | 31 | 66 |
| 2016 October | 31 | 49 | 80 |
| 2016 September | 1 | 23 | 24 |
| 2016 August | 0 | 10 | 10 |
| 2016 July | 2 | 7 | 9 |
| 2016 June | 0 | 7 | 7 |
| 2016 May | 0 | 12 | 12 |
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