RESUMO
Kaposiform lymphangiomatosis is an uncommon generalized lymphatic anomaly with distinctive clinical, radiologic, histopathologic, and molecular findings. Herein, we document the pathology in 43 patients evaluated by the Boston Children's Hospital Vascular Anomalies Center from 1999 to 2020. The most frequent presentations were respiratory difficulty, hemostatic abnormalities, and a soft tissue mass. Imaging commonly revealed involvement of some combination of mediastinal, pulmonary, pleural, and pericardial compartments and most often included spleen and skeleton. Histopathology was characterized by dilated, redundant, and abnormally configured lymphatic channels typically accompanied by dispersed clusters of variably canalized, and often hemosiderotic, spindled lymphatic endothelial cells that were immunopositive for D2-40, PROX1, and CD31. An activating lesional NRAS variant was documented in 9 of 10 patients. The clinical course was typically aggressive, marked by hemorrhage, thrombocytopenia, diminished fibrinogen levels, and a mortality rate of 21%.
Assuntos
Células Endoteliais , Pulmão , Boston , Criança , HumanosAssuntos
Angiomatose/complicações , Dermatopatias/complicações , Trombocitopenia/complicações , Biópsia , Lavagem Broncoalveolar , Tosse/complicações , Febre/complicações , Humanos , Lactente , Pulmão/patologia , Streptococcus pneumoniae , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
OBJECTIVE: Lymphatic malformations (LMs) are challenging to manage, particularly those involving the cervicofacial region and airway. Traditional therapy is sclerotherapy and/or resection. We aim to establish the emerging therapeutic role of sirolimus. STUDY DESIGN: Institutional review board-approved retrospective review. METHODS: All patients treated for cervicofacial LM with sirolimus at Boston Children's Hospital, Massachusetts, from November 2012 to October 2016 were included. Chart review included response to therapy (defined as reduction in LM bulk by clinical photographs and radiologic imaging), type of LM (microcystic, macrocystic, mixed), extent of disease, duration of therapy, patient/parent-reported quality-of-life, airway status (tracheostomy dependence), and complications (opportunistic infection, hemorrhage, other). Follow-up and clinical outcomes were included up until October 2016. RESULTS: Nineteen patients were treated with sirolimus for cervicofacial LM from November 2012 to October 2016 at Boston Children's Hospital. Seven patients remain on uninterrupted sirolimus. Of 12 patients who stopped therapy, seven have resumed due to recurrence of symptoms. All patients demonstrated reduction in LM bulk, ranging from modest to significant. All patients with mucosal vesicles (n = 14) resolved or improved on sirolimus. Six patients developed cellulitis, and four had bleeding within the LM during treatment. No patients developed opportunistic or systemic bacterial infection. CONCLUSION: The use of sirolimus in the management of cervicofacial LM often is efficacious, with limited adverse events. Long-term follow-up, durability of response, and coordination of sirolimus prior to procedural therapies need further study. LEVEL OF EVIDENCE: 4. Laryngoscope, 128:269-276, 2018.