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.

Zusammenfassung

Die Therapie des komplizierten kaposiformen Hämangio-Endothelioms (KHE) ist nach wie vor schwierig. Wir berichten erstmals über eine Laryngomalazie in einem 11-monatigem Kind mit gleichzeitig rasch infiltrierend wachsendem KHE des Halses und oberen Mediastinums und einer gesteigerten Expression des mammalian target of Rapamycin (mTOR) im Tumor. Das KHE war primär inoperabel und zusätzlich durch das Kasabach-Meritt Phänomen (KMP) kompliziert. Die Therapie der Laryngomalazie erfolgte mittels transoral durchgeführter laser-chirurgischer Inzision der verkürzten aryepiglottischen Falten und Exzision von überschüssigem supraglottischem Gewebe erfolgreich. Trotz medikamentöser Therapie mit Vincristine i. v., Kortikosteroiden, Propranolol und interstitieller Lasertherapie kam es zu einem lebensbedrohlichen akuten Progress des KHE und KMP, welches sich erst durch die off-label-Therapie mit Sirolimus beherrschen lies. Nach 16 Monaten oraler Therapie mit Sirolimus zeigte sich das Kind derart frei von Symptomen, dass jegliche Therapie abgesetzt wurde. Seitdem ist das Kind über weitere 9 Monate in einer stabilen, nahezu kompletten Remission mit außerordentlich gutem funktionellem Langzeitergebnis.

Key words

kaposiform hemangio­endothelioma - laryngomalacia - sirolimus - laserassisted supraglottoplasty - mTOR

Schlüsselwörter

kaposiformes Hämangio-Endotheliom - Laryngomalazie - Sirolimus - Lasersupraglottoplastik - mTOR

^* These two authors are shared 1^st author/contributed equally.

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