{"id":2426,"date":"2023-01-24T13:46:53","date_gmt":"2023-01-24T12:46:53","guid":{"rendered":"https:\/\/angh.net\/abstracts\/une-neoplasie-oesophagienne-dorigine-infectieuse-et-genetique\/"},"modified":"2023-01-24T13:46:53","modified_gmt":"2023-01-24T12:46:53","slug":"une-neoplasie-oesophagienne-dorigine-infectieuse-et-genetique","status":"publish","type":"post","link":"https:\/\/angh.net\/abstracts\/une-neoplasie-oesophagienne-dorigine-infectieuse-et-genetique\/","title":{"rendered":"Une n\u00e9oplasie \u0153sophagienne d\u2019origine infectieuse et g\u00e9n\u00e9tique"},"content":{"rendered":"<p><strong>2022<\/strong><\/p>\n<p><em>Lina Houtonji, Clothilde Soriano, Caroline Amouroux, Bertrand Tissot, Anna Saez, Marie-Carmen Ortiz, Dora Lippai, Andre Jean Remy, Faiza Khemissa-Akouz<\/em><\/p>\n<p><strong>Gastroent\u00e9rologie <\/strong>&#8211; \u00a02022-03-29 &#8211;\u00a0CC &#8211;<\/p>\n<p>________________________________<\/p>\n<p>Une patiente de 43 ans est hospitalis\u00e9e dans notre service pour une dysphagie et toux f\u00e9brile \u00e9voluant depuis 2 mois, avec une perte de 10 kgs.Elle rapporte comme ant\u00e9c\u00e9dents personnels une hypothyro\u00efdie suppl\u00e9ment\u00e9e et une candidose buccale<br \/>\nchronique depuis l\u2019\u00e2ge de 4 ans, secondaire \u00e0 une mutation du g\u00e8ne STAT1 avec gain de fonction. Les ant\u00e9c\u00e9dents familiaux sont similaires puisque sa fille a\u00een\u00e9e pr\u00e9sente une candidose buccale chronique depuis l\u2019\u00e2ge de 17 ans et une hypothyro\u00efdie. Son p\u00e8re est d\u00e9c\u00e9d\u00e9 \u00e0 l\u2019\u00e2ge de 57 ans d\u2019une n\u00e9oplasie oro-pharyng\u00e9e.<br \/>\nUn scanner thoracique inject\u00e9 objective un abc\u00e8s pulmonaire para-m\u00e9diastinal, avec un \u00e9paississement pari\u00e9tal \u0153sophagien au contact. Un traitement par Ceftriaxone 1 g\/j et M\u00e9tronidazole 1,5 g\/j est d\u00e9but\u00e9 pour 28 jours. Une nouvelle imagerie est r\u00e9alis\u00e9e au d\u00e9cours devant une r\u00e9cidive f\u00e9brile \u00e0 48 heures de l\u2019arr\u00eat de l\u2019antibioth\u00e9rapie et objective une stabilit\u00e9 de l\u2019abc\u00e8s pulmonaire,n\u00e9cessitant une reprise de l\u2019antibioth\u00e9rapie. Un Transit Oesogastroduod\u00e9nal (TOGD)  met en \u00e9vidence une fistule oeso-trach\u00e9ale \u00e0 hauteur de T1.<br \/>\nLa gastroscopie sous anesth\u00e9sie g\u00e9n\u00e9rale objective une tumeur circonf\u00e9rentielle de l\u2019\u0153sophage cervical, situ\u00e9e \u00e0 15 cm des arcades dentaires, non franchissable \u00e0 20 cm. L\u2019analyse histologique des multiples biopsies r\u00e9alis\u00e9es est en faveur d\u2019un carcinome \u00e9pidermo\u00efde infiltrant, diff\u00e9renci\u00e9 et moyennement<br \/>\nk\u00e9ratinisant avec un taux CPS < 1 . Le bilan d\u2019extension permet de classer la tumeur T4bN2M0, stade IVA ; la fibroscopie bronchique objective une l\u00e9sion trach\u00e9ale bourgeonnante traduisant une atteinte tumorale par contigu\u00eft\u00e9, le scanner thoraco-abdomino-pelvien inject\u00e9 et le FDG TEP ne retrouvent pas de l\u00e9sion secondaire \u00e0 distance.\nUne prise en charge nutritionnelle par nutrition ent\u00e9rale sur sonde de gastrostomie est d\u00e9but\u00e9e.\nUn traitement antifongique intraveineux par Capsofungine et une chimioth\u00e9rapie par Folfox sont d\u00e9but\u00e9s.\nLe scanner de r\u00e9\u00e9valuation r\u00e9alis\u00e9 \u00e0 3 mois, apr\u00e8s 4 cycles de Folfox objective une r\u00e9ponse compl\u00e8te selon les crit\u00e8res RECIST. Une r\u00e9flexion est conduite sur la suite de la prise en charge\nLa candidose muqueuse chronique autosomique dominante (CMC-AD) secondaire \u00e0 une mutation STAT1 avec gain de fonction (1) est une entit\u00e9 rare et s\u00e9v\u00e8re d\u2019immunod\u00e9ficience primaire. Elle est cliniquement caract\u00e9ris\u00e9e par une atteinte fongique cutan\u00e9omuqueuse, une auto-immunit\u00e9, des an\u00e9vrismes c\u00e9r\u00e9braux,\net des n\u00e9oplasies oro-pharyng\u00e9e et \u0153sophagienne. Le seul traitement actuellement propos\u00e9 pour le CMC-AD est un traitement antifongique au long cours. Certaines \u00e9tudes encourageantes sugg\u00e8rent une efficacit\u00e9 des inhibiteurs de JAK 1 et 2 (2).\nLa place du d\u00e9pistage du carcinome \u00e9pidermo\u00efde oro-pharyng\u00e9 et oesophagien chez les patients atteints de CMC-AD et chez les apparent\u00e9s reste \u00e0 pr\u00e9ciser et pourrait \u00eatre syst\u00e9matiquement propos\u00e9 (3).\n1. N Egri, et al. Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological,\ndiagnostic, and therapeutic approaches. Allergol Immunopathol (Madr). 2021\n2. FL Van de Veerdonk, et al. Treatment options for chronic mucocutaneous candidiasis. J Infect. 2016\n3. S Koo, et al. Esophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1\ngene mutation. United European Gastroenterology Journal. 2017\n<\/p>\n","protected":false},"excerpt":{"rendered":"<p>2022 Lina Houtonji, Clothilde Soriano, Caroline Amouroux, Bertrand Tissot, Anna Saez, Marie-Carmen Ortiz, Dora Lippai, Andre Jean Remy, Faiza Khemissa-Akouz Gastroent\u00e9rologie &#8211; \u00a02022-03-29 &#8211;\u00a0CC &#8211; ________________________________ Une patiente de 43 ans est hospitalis\u00e9e dans notre service pour une dysphagie et toux f\u00e9brile \u00e9voluant depuis 2 mois, avec une perte de 10 kgs.Elle rapporte comme ant\u00e9c\u00e9dents [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[4],"tags":[35],"class_list":["post-2426","post","type-post","status-publish","format-standard","hentry","category-gastroenterologie","tag-35"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - 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