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García-Miñaur, Fernando F. Santos-Simarro, Pablo Lapunzina" "autores" => array:5 [ 0 => array:4 [ "nombre" => "María José" "apellidos" => "Sánchez-Soler" "email" => array:1 [ 0 => "mj.sanchezsoler@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" => "Jair" "apellidos" => "Tenorio" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] 2 => array:3 [ "nombre" => "Sixto S." 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"apellidos" => "Santos-Simarro" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] 4 => array:3 [ "nombre" => "Pablo" "apellidos" => "Lapunzina" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Genética Clínica, INGEMM, Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Laboratorio de Endocrinología, Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Unidad 753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndromes de sobrecrecimiento y desarrollo de tumores embrionarios: revisión de nuestra casuística en los últimos 5 años" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Overgrowth syndromes (OSs) comprehend a heterogeneous group of diseases characterised by the presence of global or localised overgrowth that is usually associated with intellectual disability, specific craniofacial anomalies or congenital defects and increased risk of developing embryonic tumours. The revolutionary introduction of next-generation sequencing technology leading to the discovery of new genes and the delineation of new clinical spectra has allowed us to classify this group of diseases into three broad categories<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a>: constitutional single-gene disorders due to germline mutations in a specific gene (Sotos, Weaver, Simpson–Golabi–Behmel, Bannayan–Riley–Ruvalcaba, Perlman syndrome etc.), somatic gene disorders (macrocephaly-capillary malformation, CLOVE syndrome, CLAPO syndrome, etc.) and syndromes secondary to dysregulation of imprinted genes (Beckwith–Wiedemann syndrome [BWS], isolated hemihyperplasia [IH], etc.). On the other hand, several chromosomal disorders<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> have been associated with overgrowth in childhood (Klinefelter syndrome, deletion 2p23.3q24.3, deletion 22q13qter, etc.).</p><p id="par0010" class="elsevierStylePara elsevierViewall">In our region, BWS and Sotos syndrome are the most frequent of these diseases, with an estimated incidence of 1/13,700 and 1/15,000 to 1/20,000 inhabitants, respectively. Both are associated with an increased risk of developing tumours, most commonly neural crest tumours, haematologic malignancies and sacrococcygeal teratomas in Sotos syndrome, and Wilms tumour and hepatoblastoma in BWS and IH.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,3</span></a> At present, there is no specific protocol for the followup of Sotos syndrome, but follow-up protocols for BWS and IH have been established. Although there is still some debate around it, it is recommended that abdominal ultrasound scans are performed every three to six months until age 7–8 years and measurement of serum alpha-fetoprotein every three months until age 4 years.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4–6</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">We describe the reason for referral, molecular testing and presence or absence of embryonic tumours in 76 patients aged less than 18 years referred in the past five years to the clinical genetics department for suspected OS. Of the total of 76 patients, 72% were referred for suspected BWS/IH (38) or Sotos syndrome (17); the most frequent clinical manifestations in the first group were macroglossia, omphalocoele, hemihyperplasia and overgrowth, and in the second group, macrocephaly, overgrowth and psychomotor delay. Other reasons for referral were suspicion of Costello syndrome (9), Weaver syndrome (5), macrocephaly-capillary malformation (5), Simpson–Golabi–Behmel syndrome (3) and nonspecific overgrowth (6). The patients underwent the following genetic tests (positives/total): karyotyping or CGH array (4/45 [9%]: one Pallister–Killian syndrome, one Klinefelter syndrome, one 46,XX male with positive <span class="elsevierStyleItalic">SRY</span>, one mosaic trisomy 22 in a patient with IH [skin biopsy]); MS-MLPA region 11p15.5 (11/43 [25%]: 10 BWS and 1 IH); MLPA region 5q35 (0/35 [0%]); <span class="elsevierStyleItalic">NSD1</span> gene sequencing (1/6 [16%], one Sotos syndrome); sequencing of other genes including <span class="elsevierStyleItalic">GPC3</span> (0/3 [0%]), <span class="elsevierStyleItalic">HRAS</span> (4/8 [50%]: 4 Costello syndrome); <span class="elsevierStyleItalic">EZH2</span> (1/4 [25%]: one Weaver syndrome); <span class="elsevierStyleItalic">PTEN</span> (2/5 [40%]: one Bannayan–Riley–Ruvalcaba syndrome, one macrocephaly-autism syndrome). Overall, out of a total of 41 cases with a specific diagnosis (54%), the diagnosis was confirmed by genetic testing in 23 (30%). The most frequent diagnoses were IH (12) and BWS (10); macrocephaly-capillary malformation (6); Costello syndrome (4); chromosomal disorder (3); Sotos syndrome (2); Weaver syndrome (2); Bannayan–Riley–Ruvalcaba syndrome (1), and macrocephaly-autism syndrome (1). The rest were classified as nonspecific overgrowth of unknown aetiology or seemingly isolated defects (omphalocoele, macroglossia, etc.) (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>).</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">A comparison of the indications for referral (72% for suspected BWS/IH or Sotos syndrome) with the specific diagnoses made in our population (57%) evinces the complexity of these disorders and the overlap in their clinical manifestations, as well as the importance of the assessment by a clinical geneticist for their adequate characterisation.</p><p id="par0025" class="elsevierStylePara elsevierViewall">None of the patients with BWS (10) due to IC2 hypomethylation in the 11p15 region or with Sotos syndrome (2) developed tumours during followup. The mean duration of followup was three years, which may have biased the results. One in twelve (8.3%) patients with IH and an unknown genetic defect developed paravertebral neuroblastoma at 16 months, which supports the recommendation of using a follow-up protocol in these patients.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> We ought to highlight that two children with overgrowth of unknown aetiology developed a Wilms tumour and a lymphatic malignancy that required radiation, respectively, before age 3 years. This suggests that even if the underlying genetic defect is not known, we must keep in mind the association between these syndromes and the development of embryonic tumours.</p><p id="par0030" class="elsevierStylePara elsevierViewall">In conclusion, overgrowth syndromes constitute a heterogeneous group of diseases that carry a high risk of developing tumours in childhood, and therefore paediatricians need to be knowledgeable on this area. The early characterisation of these syndromes by clinical geneticists can guide genetic testing, allowing specific genetic counselling and close monitoring of patients with BWS and IH consisting of the performance of abdominal ultrasound scans every three to four months until age 7–8 years and measurement of serum alpha-fetoprotein every three months until age 4 years, independent of the specific underlying genetic defect.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4,6</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Sánchez-Soler MJ, Tenorio J, García-Miñaur S, Santos-Simarro F, Lapunzina P. Síndromes de sobrecrecimiento y desarrollo de tumores embrionarios: revisión de nuestra casuística en los últimos 5 años. An Pediatr (Barc). 2016;85:104–105.</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:2 [ "leyenda" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">BRRS, Bannayan–Riley–Ruvalcaba syndrome; BWS, Beckwith–Wiedemann syndrome; IH, isolated hemihyperplasia; M-CM, macrocephaly-capillary malformation.</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="left" valign="top" scope="col" style="border-bottom: 2px solid black">Clinical diagnosis \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">N.° \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">Molecular confirmation \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"><span class="elsevierStyleItalic">N</span> \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">IH \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">12 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">IC2 hypomethylation region 11p15 (1);<br>Mosaic trisomy 22 (1) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2 \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">BWS \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">10 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">IC2 hypomethylation region 11p15 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">10 \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">M-CM \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">6 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Unknown \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">0 \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">Costello syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">4 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygous mutations c.34G>A;<br>c.37G>T (2); c.35G>C(1) in <span class="elsevierStyleItalic">HRAS</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">4 \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">Chromosomal disorder \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">3 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">47,XXY; Pallister-Killian syndrome; 46,XX male with positive SRY \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">3 \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">Sotos syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygous mutation c.3874insA in<br><span class="elsevierStyleItalic">NSD1</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \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">Weaver syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygous mutation c.1876 G>A<br>gen <span class="elsevierStyleItalic">EZH2</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \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">BRRS \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygous mutation c.210-7 del CTTTT in intron 3 of the <span class="elsevierStyleItalic">PTEN</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \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">Macrocephaly/autism syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygous mutation c.202T>C in <span class="elsevierStyleItalic">PTEN</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1144663.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Specific clinical diagnoses and molecular confirmation.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular mechanisms of childhood overgrowth syndromes" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "K. 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Year/Month | Html | Total | |
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2024 November | 4 | 12 | 16 |
2024 October | 53 | 60 | 113 |
2024 September | 48 | 39 | 87 |
2024 August | 62 | 60 | 122 |
2024 July | 45 | 33 | 78 |
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2023 December | 51 | 14 | 65 |
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2023 September | 42 | 28 | 70 |
2023 August | 27 | 18 | 45 |
2023 July | 38 | 30 | 68 |
2023 June | 39 | 28 | 67 |
2023 May | 43 | 24 | 67 |
2023 April | 22 | 24 | 46 |
2023 March | 35 | 20 | 55 |
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2020 December | 61 | 42 | 103 |
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2019 December | 31 | 17 | 48 |
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2019 October | 34 | 11 | 45 |
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2018 December | 42 | 30 | 72 |
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2018 August | 6 | 0 | 6 |
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2018 May | 23 | 0 | 23 |
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2018 March | 26 | 0 | 26 |
2018 February | 11 | 0 | 11 |
2018 January | 17 | 0 | 17 |
2017 December | 3 | 0 | 3 |
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2017 October | 21 | 0 | 21 |
2017 September | 18 | 0 | 18 |
2017 August | 18 | 0 | 18 |
2017 July | 29 | 2 | 31 |
2017 June | 19 | 8 | 27 |
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2017 April | 13 | 6 | 19 |
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2016 August | 78 | 15 | 93 |
2016 July | 26 | 12 | 38 |