Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus

Yeşil, Şule; Bozkurt, Ceyhun; Tanyıldız, Hikmet Gülşah; Tekgündüz, Sibel Akpınar; Candir, Mehmet Onur; Toprak, Şule; Şahin, Gürses

doi:10.1177/0003489415583330

Cited by 30 publications

(28 citation statements)

References 15 publications

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“…One prospective nonrandomized study and 17 retrospective studies described the treatment of lymphatic malformations with oral sirolimus. 14,19,26,32,41,48,56,61,[64][65][66][67][68][69][70][71][72][73] The median age was 12.8 years (0-34 years); 20% of patients were younger than 1 year, and 90% were younger than 18 years. Nonspecified decrease in lesion size was reported in 77.8% patients, partial response in 22.2%, complete response in 3.7%, improvement of pleural effusion in 9.9%, decrease of skin exudate and vesicles in 16.5%, and improvement of pain in 4.9%.…”

Section: Vascular Malformationsmentioning

confidence: 99%

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

Freixo

Ferreira

Martins

et al. 2020

Journal of Vascular Surgery

142

115

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Objective: The management of vascular anomalies is complex and requires a multidisciplinary team with a combination of medical, surgical, and intervention treatments. Medical treatment is limited and has conflicting results. Off-label use of mammalian target of rapamycin inhibitors shows promising results. The objective of this study was to systematically evaluate the literature published about the efficacy and safety of sirolimus in the treatment of vascular anomalies. Methods: A systematic review of the published literature was conducted using the PubMed database and Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Results: There were 73 articles included: 2 randomized controlled studies, 2 nonrandomized prospective studies, and 69 retrospective case reports and case series. In total, 373 patients were included. Sirolimus was administered topically to 56 patients and orally to 317 patients. Sirolimus was highly effective in the treatment of vascular tumors associated with Kasabach-Merritt phenomenon (95.5% of the patients clinically improved and 93% had normalization of coagulopathy), venous malformations (size reduction was observed in 88.9% of patients), and lymphatic malformations (clinical improvement in 94.9% of patients). Topical sirolimus results were conflicting. Arteriovenous malformations were not improved by sirolimus. Conclusions: Low-level evidence suggests that sirolimus can improve the prognosis of vascular anomalies, most notably vascular tumors associated with life-threatening coagulopathy and venous and lymphatic malformations. Further research is needed to establish the benefits of sirolimus in the management of vascular anomalies.

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Section: Vascular Malformationsmentioning

confidence: 99%

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

Freixo

Ferreira

Martins

et al. 2020

Journal of Vascular Surgery

142

115

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“…Rapamycin was selected for our patient due to his critical situation. This decision was made based on what it had been published in the literature (Adams et al, ; Alemi, Rosbe, Chan, & Meyer, ; Fogel, Hill, & Teng, ; Hammill et al, ; Yesil et al, ). Among favorable reports in rapamycin therapy, Alemi et al () demonstrated two patient's airway obstruction improvement, and Yesil et al () described a case with lymphatic vascular anomaly and macroglossia, practically solved in 9 months of treatment with oral rapamycin.…”

Section: Discussionmentioning

confidence: 99%

Clapo Syndrome: Effective Response to Treatment With Oral Rapamycin

González-Hermosa

Guerra

Limousin

et al. 2019

Dermatologic Therapy

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CLAPO syndrome (Capillary vascular malformation of the lower lip, Lymphatic malformations of the head and neck, Asymmetry and Partial or generalized Overgrowth) is a nonfrequent pathology. This syndrome is characterized by the capillary malformation (CM) of the lower lip, a very important clinical sign when diagnosing CLAPO. The aim of our report is to demonstrate that rapamycin could be a reliable and safe targeted therapy in lymphatic malformations (LMs). This drug is useful in reducing the LM's size before final surgical treatment. The clinical and radiological evolution of a patient with CLAPO syndrome is reported in this article, before and after the treatment with rapamycin.

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“…Although many studies have focused on the role of PI3K activation and inhibition in vascular endothelial cells, it is important to keep in mind that sirolimus is an immunosuppressant, and it may have greater than one mechanism of action in LM. Clinical response of HNLM or LM associated syndromes/disorders such as Gorham‐Stout disease, kaposiform hemangioendothelioma, combined lymphatico‐venous malformation, pulmonary lymphangectasia, generalized lymphangiomatosis, and LM of the tongue to sirolimus has varied . Literature to date does not yet distinguish which patients are the best candidates for sirolimus and what true benefits it has.…”

Section: Therapy For Head and Neck Lymphatic Malformations Based On Mmentioning

confidence: 99%

“…Clinical response of HNLM or LM associated syndromes/disorders such as Gorham-Stout disease, kaposiform hemangioendothelioma, combined lymphatico-venous malformation, pulmonary lymphangectasia, generalized lymphangiomatosis, and LM of the tongue to sirolimus has varied. [26][27][28][29][30][31][32][33] Literature to date does not yet distinguish which patients are the best candidates for sirolimus and what true benefits it has. A phase 2 trial analyzed the outcomes after empiric use of sirolimus in patients with complicated LM throughout the body.…”

Section: Therapy For Head and Neck Lymphatic Malformations Based On Mmentioning

confidence: 99%

Clinical application of molecular genetics in lymphatic malformations

Padia

Zenner

Bly

et al. 2019

Laryngoscope Investig Oto

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Objectives To describe the clinical presentation of lymphatic malformations (LM) and genotypically associated disorders and to summarize the recent literature regarding the genetic etiology of LM and provide a biologic correlation to medical and surgical management. Results LM are congenital lesions derived from a developmental abnormality of the lymphatic vessels. The severity of disease varies widely and complications can occur with higher staged disease and those associated with a known constellation of symptoms. Somatic mutations of the PIK3CA gene have been found to be an etiologic factor in the development of LM and associated overgrowth syndromes. Sirolimus is a mammalian target of rapamycin (mTOR) inhibitor that inhibits the pathway downstream of PIK3CA . Preliminary studies in select groups of patients suggest that sirolimus has a role in the medical management of certain aspects of this disease. Conclusions Discovery of LM molecular genetics has led to the possibility of targeted therapies and highlights the importance of precision medicine in rare diseases. Identifying genetic mutations in larger cohorts of patients with LM will lead to additional insights. Knowledge of the genetic basis for disease can then lead to discovery of directed medical therapy. A specific molecular diagnosis can also help families understand better why their child is different and provide accurate counseling for subsequent pregnancies. Level of Evidence 6

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Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus

Abstract: This article presents a novel approach to the treatment of lymphatic malformation of the tongue using sirolimus, which appears to be safe and effective for the management of complex cases.

Cited by 30 publications

References 15 publications

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

Clapo Syndrome: Effective Response to Treatment With Oral Rapamycin

Clinical application of molecular genetics in lymphatic malformations

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