title: Laryngomalacia and complicated, life-threatening mTOR-positive Kaposiform hemangioendothelioma cured by Supraglottoplasty and sirolimus.
abstract: The therapy of complicated Kaposiform hemangioendothelioma (KHE) is still difficult. We present the first case of laryngomalacia with simultaneous mammalian target of Rapamycin (mTOR)-positive KHE of the neck and thoracic inlet and concurrent Kasabach-Meritt Phenomenon (KMP) in an 11-month-old boy suffering life-threatening progress despite intravenous vincristine, corticosteroids, propranolol and local interstitial laser-application. The laryngomalacia restored after laser-supraglottoplasty. Successfully treatment of the prior fatal course of the KHE with KMP was initiated not till adding the mTOR inhibitor sirolimus to therapy. After 16 months single therapy of KHE with oral sirolimus the boy presented free of symptoms with minimal residual disease and excellent functional long-term results. Thus we stopped sirolimus therapy. The results are stable for 9 months without therapy. The special features including full report of histopathologic findings of this utmost complicated case are demonstrated in detail underlining the effectiveness of sirolimus for KHE.
authors.affiliation: ENT, University Hospital of Schleswig-Holstein, Luebeck, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Schroeder
authors.affiliation: Department of Pediatric Hematology & Oncology, University Hospital of Schleswig-Holstein, Luebeck, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Lauten
authors.affiliation: Department of Pediatric Hematology & Oncology, University Hospital of Schleswig-Holstein, Luebeck, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Stichtenoth
authors.affiliation: Department of Pathology, University Hospital of Schleswig-Holstein, -Luebeck, Germany.
authors.forename: M P E
authors.initials: MP
authors.lastname: Gebhard
authors.affiliation: Department of Radiology, University Hospital of Schleswig-Holstein, -Luebeck, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Buchholz
authors.affiliation: Department of Pediatric Surgery, University Hospital of Schleswig-Holstein, Luebeck, Germany.
authors.forename: M M
authors.initials: MM
authors.lastname: Kaiser
mesh_terms: D003131:Combined Modality Therapy; D005931:Glottis / Q000601:surgery*; D006390:Hemangioendothelioma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D007223:Infant; D059885:Kasabach-Merritt Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery / Q000628:therapy*; D055092:Laryngomalacia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D058753:Laryngoplasty; D053685:Laser Therapy; D008297:Male; D012514:Sarcoma, Kaposi / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D020123:Sirolimus / Q000627:therapeutic use*; D058570:TOR Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus