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                <term xml:lang="en">Adolescent  Child  Humans  Neurilemmoma</term>
                <term xml:lang="en">diagnosis  Neurilemmoma</term>
                <term xml:lang="en">genetics  Neurilemmoma</term>
                <term xml:lang="en">therapy  Neurofibromatoses</term>
                <term xml:lang="en">diagnosis  Neurofibromatoses</term>
                <term xml:lang="en">genetics  Neurofibromatoses</term>
                <term xml:lang="en">therapy  Pain  Skin Neoplasms</term>
                <term xml:lang="en">diagnosis  Skin Neoplasms</term>
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              <p>A Guideline Group (GG) was convened from multiple specialties and patients to develop the first comprehensive schwannomatosis guideline. The GG undertook thorough literature review and wrote recommendations for treatment and surveillance. A modified Delphi process was used to gain approval for recommendations which were further altered for maximal consensus. Schwannomatosis is a tumour predisposition syndrome leading to development of multiple benign nerve-sheath non-intra-cutaneous schwannomas that infrequently affect the vestibulocochlear nerves. Two definitive genes ( SMARCB1 / LZTR1 ) have been identified on chromosome 22q centromeric to NF2 that cause schwannoma development by a 3-event, 4-hit mechanism leading to complete inactivation of each gene plus NF2 . These genes together account for 70–85% of familial schwannomatosis and 30–40% of isolated cases in which there is considerable overlap with mosaic NF2. Craniospinal MRI is generally recommended from symptomatic diagnosis or from age 12–14 if molecularly confirmed in asymptomatic individuals whose relative has schwannomas. Whole-body MRI may also be deployed and can alternate with craniospinal MRI. Ultrasound scans are useful in limbs where typical pain is not associated with palpable lumps. Malignant-Peripheral-Nerve-Sheath-Tumour-MPNST should be suspected in anyone with rapidly growing tumours and/or functional loss especially with SMARCB1- related schwannomatosis. Pain (often intractable to medication) is the most frequent symptom. Surgical removal, the most effective treatment, must be balanced against potential loss of function of adjacent nerves. Assessment of patients’ psychosocial needs should be assessed annually as well as review of pain/pain medication. Genetic diagnosis and counselling should be guided ideally by both blood and tumour molecular testing.</p>
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          <orgName>University of Nicosia</orgName>
          <orgName type="acronym">UNIC</orgName>
          <date type="start">2007-09-01</date>
          <desc>
            <address>
              <addrLine>Makedonitissis 46, Nicosia 2417, Chypre</addrLine>
              <country key="CY"/>
            </address>
            <ref type="url">https://www.unic.ac.cy/</ref>
          </desc>
        </org>
        <org type="laboratory" xml:id="struct-29301" status="VALID">
          <orgName>Hôpital Henri Mondor</orgName>
          <desc>
            <address>
              <addrLine>Créteil</addrLine>
              <country key="FR"/>
            </address>
          </desc>
          <listRelation>
            <relation active="#struct-300068" type="direct"/>
            <relation active="#struct-366262" type="direct"/>
            <relation active="#struct-103061" type="indirect"/>
            <relation active="#struct-420786" type="direct"/>
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        </org>
        <org type="institution" xml:id="struct-132502" status="VALID">
          <orgName>King's College Hospital</orgName>
          <orgName type="acronym">KCH</orgName>
          <desc>
            <address>
              <addrLine>Denmark HillLondon, SE5 9RS</addrLine>
              <country key="GB"/>
            </address>
            <ref type="url">https://www.kch.nhs.uk/</ref>
          </desc>
        </org>
        <org type="regrouplaboratory" xml:id="struct-542029" status="VALID">
          <idno type="IdRef">162466021</idno>
          <idno type="ISNI">0000000406205939</idno>
          <idno type="RNSR">200918525B</idno>
          <idno type="ROR">https://ror.org/050gn5214</idno>
          <orgName>Institut du Cerveau = Paris Brain Institute</orgName>
          <orgName type="acronym">ICM</orgName>
          <desc>
            <address>
              <addrLine>47-83 Boulevard de l'Hôpital 75651 Paris Cedex 13</addrLine>
              <country key="FR"/>
            </address>
          </desc>
          <listRelation>
            <relation active="#struct-300068" type="direct"/>
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        <org type="institution" xml:id="struct-148408" status="VALID">
          <idno type="IdRef">026430584</idno>
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            <address>
              <addrLine>Piazza di San Marco, 4, 50121 Firenze FI, Italie</addrLine>
              <country key="IT"/>
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            <ref type="url">https://www.unifi.it/</ref>
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        </org>
        <org type="laboratory" xml:id="struct-222656" status="VALID">
          <orgName>Center for Human Genetics [KU Leuven]</orgName>
          <orgName type="acronym">KU Leuven | CHG</orgName>
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            <address>
              <addrLine>Herestraat 49 - 3000 Leuven</addrLine>
              <country key="BE"/>
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            <ref type="url">https://gbiomed.kuleuven.be/english/cme</ref>
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        <org type="institution" xml:id="struct-561717" status="VALID">
          <orgName>Germans Trias i Pujol University Hospital [Badalona, Barcelona, Spain]</orgName>
          <orgName type="acronym">GTPUH</orgName>
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            <address>
              <addrLine>Carretera de Canyet, s/n, 08916 Badalona, Barcelona,</addrLine>
              <country key="ES"/>
            </address>
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        <org type="institution" xml:id="struct-121172" status="VALID">
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          <orgName>University of Manchester [Manchester]</orgName>
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            <address>
              <addrLine>Oxford Rd, Manchester M13 9PL</addrLine>
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            <ref type="url">http://www.manchester.ac.uk/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-554838" status="VALID">
          <orgName>Manchester University NHS Foundation Trust</orgName>
          <orgName type="acronym">MFT</orgName>
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            <address>
              <country key="GB"/>
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            <ref type="url">https://mft.nhs.uk/</ref>
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          <idno type="ROR">https://ror.org/00pg5jh14</idno>
          <orgName>Assistance publique - Hôpitaux de Paris (AP-HP)</orgName>
          <orgName type="acronym">AP-HP</orgName>
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            <address>
              <country key="FR"/>
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        </org>
        <org type="institution" xml:id="struct-366262" status="VALID">
          <idno type="ROR">https://ror.org/04m61mj84</idno>
          <orgName>CHU Henri Mondor [Créteil]</orgName>
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            <address>
              <addrLine>51, avenue du Maréchal de Lattre de Tassigny 94000 Créteil</addrLine>
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          </desc>
          <listRelation>
            <relation active="#struct-103061" type="direct"/>
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        </org>
        <org type="regroupinstitution" xml:id="struct-103061" status="VALID">
          <orgName>Groupe Henri Mondor-Albert Chenevier</orgName>
          <desc>
            <address>
              <addrLine>Créteil</addrLine>
              <country key="FR"/>
            </address>
          </desc>
        </org>
        <org type="institution" xml:id="struct-420786" status="VALID">
          <idno type="IdRef">028021037</idno>
          <idno type="ISNI">0000000121497878</idno>
          <idno type="ROR">https://ror.org/05ggc9x40</idno>
          <orgName>Université Paris-Est Créteil Val-de-Marne - Paris 12</orgName>
          <orgName type="acronym">UPEC UP12</orgName>
          <date type="start">1970-01-01</date>
          <desc>
            <address>
              <addrLine>61 avenue du Général de Gaulle - 94010 Créteil cedex</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.u-pec.fr/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-303623" status="VALID">
          <idno type="IdRef">026388278</idno>
          <idno type="ROR">https://ror.org/02vjkv261</idno>
          <orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
          <orgName type="acronym">INSERM</orgName>
          <desc>
            <address>
              <addrLine>101, rue de Tolbiac, 75013 Paris</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.inserm.fr</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-353778" status="VALID">
          <idno type="ROR">https://ror.org/02mh9a093</idno>
          <orgName>CHU Pitié-Salpêtrière [AP-HP]</orgName>
          <desc>
            <address>
              <addrLine>47-83 Boulevard de l'Hôpital, 75013 Paris</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.aphp.fr/contenu/hopital-universitaire-pitie-salpetriere-0</ref>
          </desc>
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        </org>
        <org type="regroupinstitution" xml:id="struct-413221" status="VALID">
          <idno type="IdRef">221333754</idno>
          <idno type="ROR">https://ror.org/02en5vm52</idno>
          <orgName>Sorbonne Université</orgName>
          <orgName type="acronym">SU</orgName>
          <date type="start">2018-01-01</date>
          <desc>
            <address>
              <addrLine>21 rue de l’École de médecine - 75006 Paris</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.sorbonne-universite.fr/</ref>
          </desc>
        </org>
        <org type="regroupinstitution" xml:id="struct-441569" status="VALID">
          <idno type="IdRef">02636817X</idno>
          <idno type="ISNI">0000000122597504</idno>
          <idno type="ROR">https://ror.org/02feahw73</idno>
          <orgName>Centre National de la Recherche Scientifique</orgName>
          <orgName type="acronym">CNRS</orgName>
          <date type="start">1939-10-19</date>
          <desc>
            <address>
              <country key="FR"/>
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            <ref type="url">https://www.cnrs.fr/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-300656" status="VALID">
          <idno type="IdRef">026458632</idno>
          <idno type="ROR">https://ror.org/05f950310</idno>
          <orgName>Catholic University of Leuven = Katholieke Universiteit Leuven</orgName>
          <orgName type="acronym">KU Leuven</orgName>
          <desc>
            <address>
              <addrLine>Oude Markt 13 - bus 5005, 3000 Leuven</addrLine>
              <country key="BE"/>
            </address>
            <ref type="url">http://www.kuleuven.be/english/</ref>
          </desc>
        </org>
      </listOrg>
    </back>
  </text>
</TEI>