Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review
Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of the Rat Sarcoma/Mitogen-activated protein kinase (RAS/MAPK) pathway and characterized by short stature, heart defects, pectus excavatum, webbed neck, learning disabilities, cryptorchidism, and facial dy...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-01-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2021.817873/full |
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| author | Romain Dalla-Torre Romain Dalla-Torre Vincent Crenn Pierre Menu Pierre Menu Pierre Menu Pierre Menu Bertrand Isidor Pascale Guillot Benoit Le Goff Loic Geffroy Marc Dauty Marc Dauty Marc Dauty Marc Dauty Alban Fouasson-Chailloux Alban Fouasson-Chailloux Alban Fouasson-Chailloux Alban Fouasson-Chailloux |
| author_facet | Romain Dalla-Torre Romain Dalla-Torre Vincent Crenn Pierre Menu Pierre Menu Pierre Menu Pierre Menu Bertrand Isidor Pascale Guillot Benoit Le Goff Loic Geffroy Marc Dauty Marc Dauty Marc Dauty Marc Dauty Alban Fouasson-Chailloux Alban Fouasson-Chailloux Alban Fouasson-Chailloux Alban Fouasson-Chailloux |
| author_sort | Romain Dalla-Torre |
| collection | DOAJ |
| description | Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of the Rat Sarcoma/Mitogen-activated protein kinase (RAS/MAPK) pathway and characterized by short stature, heart defects, pectus excavatum, webbed neck, learning disabilities, cryptorchidism, and facial dysmorphia. Villonodular synovitis is a joint disorder most common in young adults characterized by an abnormal proliferation of the synovial membrane. Multifocal Villonodular synovitis is a rare disease whose recurrent nature can make its management particularly difficult. Currently, there is no systemic therapy recommended in diffuse and recurrent forms, especially because of the fear of long-term side effects in patients, who are usually young. Yet, tyrosine kinase inhibitors seem promising to reduce the effects of an aberrant colony stimulating factor-1 (CSF-1) production at the origin of the synovial nodule proliferation. We present here the case of a 21-year-old woman with NS associated to diffuse multifocal villonodular synovitis (DMVS). Our clinical case provides therapeutic experience in this very rare association. Indeed, in association with surgery, the patient improved considerably: she had complete daily life autonomy, knee joint amplitudes of 100° in flexion and 0° in extension and was able to walk for 10 min without any technical assistance. To our knowledge, this is the first case of a patient suffering from DMVS associated with a Noonan syndrome treated with Glivec® (oral administration at a dosage of 340 mg/m2 in children, until disease regression) on a long-term basis. |
| first_indexed | 2024-04-11T18:35:39Z |
| format | Article |
| id | doaj.art-89946bb2afc24f50897ebbe700a0b2af |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-11T18:35:39Z |
| publishDate | 2022-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-89946bb2afc24f50897ebbe700a0b2af2022-12-22T04:09:17ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2022-01-01810.3389/fmed.2021.817873817873Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature ReviewRomain Dalla-Torre0Romain Dalla-Torre1Vincent Crenn2Pierre Menu3Pierre Menu4Pierre Menu5Pierre Menu6Bertrand Isidor7Pascale Guillot8Benoit Le Goff9Loic Geffroy10Marc Dauty11Marc Dauty12Marc Dauty13Marc Dauty14Alban Fouasson-Chailloux15Alban Fouasson-Chailloux16Alban Fouasson-Chailloux17Alban Fouasson-Chailloux18CHU Nantes, Service de Médecine Physique et de Réadaptation Locomotrice, University Hospital of Nantes, Nantes, FranceCHU Nantes, Service de Rhumatologie, University Hospital of Nantes, Nantes, FranceCHU de Nantes, Clinique Chirurgicale Orthopédique et Traumatologique, Hôtel-Dieu, Nantes, FranceCHU Nantes, Service de Médecine Physique et de Réadaptation Locomotrice, University Hospital of Nantes, Nantes, FranceCHU Nantes, Service de Médecine du Sport, University Hospital of Nantes, Nantes, FranceINSERM UMR U1229/RMeS, Regenerative Medicine and Skeleton – Nantes University, Nantes, FranceIRMS, Institut Régional de Médecine du Sport, Hôpital Saint Jacques, Nantes, FranceCHU Nantes, Service de Génétique Médicale, University Hospital of Nantes, Nantes, FranceCHU Nantes, Service de Rhumatologie, University Hospital of Nantes, Nantes, FranceCHU Nantes, Service de Rhumatologie, University Hospital of Nantes, Nantes, FranceChirurgie Orthopédique, Santé Atlantique, Saint Herblain, FranceCHU Nantes, Service de Médecine Physique et de Réadaptation Locomotrice, University Hospital of Nantes, Nantes, FranceCHU de Nantes, Clinique Chirurgicale Orthopédique et Traumatologique, Hôtel-Dieu, Nantes, FranceCHU Nantes, Service de Médecine du Sport, University Hospital of Nantes, Nantes, FranceINSERM UMR U1229/RMeS, Regenerative Medicine and Skeleton – Nantes University, Nantes, FranceCHU Nantes, Service de Médecine Physique et de Réadaptation Locomotrice, University Hospital of Nantes, Nantes, FranceCHU de Nantes, Clinique Chirurgicale Orthopédique et Traumatologique, Hôtel-Dieu, Nantes, FranceCHU Nantes, Service de Médecine du Sport, University Hospital of Nantes, Nantes, FranceINSERM UMR U1229/RMeS, Regenerative Medicine and Skeleton – Nantes University, Nantes, FranceNoonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of the Rat Sarcoma/Mitogen-activated protein kinase (RAS/MAPK) pathway and characterized by short stature, heart defects, pectus excavatum, webbed neck, learning disabilities, cryptorchidism, and facial dysmorphia. Villonodular synovitis is a joint disorder most common in young adults characterized by an abnormal proliferation of the synovial membrane. Multifocal Villonodular synovitis is a rare disease whose recurrent nature can make its management particularly difficult. Currently, there is no systemic therapy recommended in diffuse and recurrent forms, especially because of the fear of long-term side effects in patients, who are usually young. Yet, tyrosine kinase inhibitors seem promising to reduce the effects of an aberrant colony stimulating factor-1 (CSF-1) production at the origin of the synovial nodule proliferation. We present here the case of a 21-year-old woman with NS associated to diffuse multifocal villonodular synovitis (DMVS). Our clinical case provides therapeutic experience in this very rare association. Indeed, in association with surgery, the patient improved considerably: she had complete daily life autonomy, knee joint amplitudes of 100° in flexion and 0° in extension and was able to walk for 10 min without any technical assistance. To our knowledge, this is the first case of a patient suffering from DMVS associated with a Noonan syndrome treated with Glivec® (oral administration at a dosage of 340 mg/m2 in children, until disease regression) on a long-term basis.https://www.frontiersin.org/articles/10.3389/fmed.2021.817873/fullNoonan syndromemultifocal villonodular synovitisImatinibjointscase report |
| spellingShingle | Romain Dalla-Torre Romain Dalla-Torre Vincent Crenn Pierre Menu Pierre Menu Pierre Menu Pierre Menu Bertrand Isidor Pascale Guillot Benoit Le Goff Loic Geffroy Marc Dauty Marc Dauty Marc Dauty Marc Dauty Alban Fouasson-Chailloux Alban Fouasson-Chailloux Alban Fouasson-Chailloux Alban Fouasson-Chailloux Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review Frontiers in Medicine Noonan syndrome multifocal villonodular synovitis Imatinib joints case report |
| title | Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review |
| title_full | Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review |
| title_fullStr | Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review |
| title_full_unstemmed | Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review |
| title_short | Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review |
| title_sort | imatinib a new adjuvant medical treatment for multifocal villonodular synovitis associated to noonan syndrome a case report and literature review |
| topic | Noonan syndrome multifocal villonodular synovitis Imatinib joints case report |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2021.817873/full |
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