Medical Therapeutics for the Treatment of Vascular Anomalies: Part 3

Article Oncology

Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response

Elissa R. Engel et al.

Summary: Sirolimus therapy is safe and effective in reducing complications and improving quality of life in patients with capillary lymphatic venous malformations and associated syndromes.

PEDIATRIC BLOOD & CANCER (2023)

添加到收藏夹

Review Medicine, Research & Experimental

Sirolimus in the Treatment of Microcystic Lymphatic Malformations: A Systematic Review

Joyce M. C. Teng et al.

Summary: Sirolimus appears to be an effective and safe option in the management of cutaneous and complex micro LMs. The clinical data over the last 10 years show significant and long-term improvement with sirolimus treatment for micro LMs, with no unexpected adverse events. However, prospective, controlled trials are needed to accurately evaluate the benefits and risks of sirolimus in managing micro LMs.

LYMPHATIC RESEARCH AND BIOLOGY (2023)

添加到收藏夹

Article Dermatology

Delayed ulceration following combination pulse dye laser and topical sirolimus treatment for port wine birthmarks: A case series

Catherine Grace P. Hobayan et al.

Summary: Port wine birthmarks (PWB) are vascular malformations that can darken and thicken with age, commonly occurring on the head and neck. Pulsed dye laser (PDL) is the preferred treatment for PWB as it targets the affected blood vessels. Sirolimus, an antibiotic, can be used in combination with PDL to suppress angiogenesis pathways. However, there is a potential risk of delayed ulceration and systemic sirolimus absorption, which raises concerns about patient safety.

PEDIATRIC DERMATOLOGY (2023)

添加到收藏夹

Article Pharmacology & Pharmacy

Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum

Gemma Garreta Fontelles et al.

Summary: CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the PIK3CA gene. The treatment for this disorder has been challenging, but recent research on drugs that target the PIK3CA pathway has shown promising results. Alpelisib, a selective inhibitor, has been particularly effective at low doses in reducing tumor size in patients with PROS disorders.

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY (2022)

添加到收藏夹

Article Immunology

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

Gabriel Morin et al.

Summary: This study reports the clinical outcomes of two infants with PIK3CA-related overgrowth spectrum treated with alpelisib. After 12 months of follow-up, alpelisib treatment was associated with improvements in symptoms, lesions, and anomalies in both patients.

JOURNAL OF EXPERIMENTAL MEDICINE (2022)

添加到收藏夹

Article Dermatology

Successful management of an arteriovenous malformation with trametinib in a patient with capillary-malformation arteriovenous malformation syndrome and cardiac compromise

Cynthia L. Nicholson et al.

Summary: This article describes a case report of a patient with CM-AVM syndrome and significant cardiac compromise who was successfully treated with trametinib, a MEK inhibitor.

PEDIATRIC DERMATOLOGY (2022)

添加到收藏夹

Article Peripheral Vascular Disease

Pazopanib for severe bleeding and transfusion-dependent anemia in hereditary hemorrhagic telangiectasia

Joseph G. Parambil et al.

Summary: Pazopanib was found to be safe and effective in managing severe bleeding in HHT patients, with all patients achieving transfusion independence and normalization of hematologic parameters. These findings need confirmation in a randomized trial.

ANGIOGENESIS (2022)

添加到收藏夹

Article Dermatology

Efficacy and safety of oral sirolimus for high-flow vascular malformations in real clinical practice

A. J. Duran-Romero et al.

Summary: Oral sirolimus shows good efficacy and safety in treating high-flow vascular malformations, with most patients experiencing partial relief and tolerating the treatment well. It can be a useful option for long-term stabilization of patients with high-flow vascular malformations.

CLINICAL AND EXPERIMENTAL DERMATOLOGY (2022)

添加到收藏夹

Article Hematology

A precision medicine approach to hereditary hemorrhagic telangiectasia and complex vascular anomalies

Hanny Al-Samkari et al.

Summary: Vascular anomalies are a diverse group of disorders, including malformations and tumors. Hereditary hemorrhagic telangiectasia (HHT) is the second most common hereditary bleeding disorder. Patients with HHT and other vascular anomalies suffer from various complications. The International Society for the Study of Vascular Anomalies (ISSVA) has developed a standardized classification for these disorders, and the treatments for vascular anomalies are rapidly evolving.

JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2022)

添加到收藏夹

Article Hematology

An international, multicenter study of intravenous bevacizumab for bleeding in hereditary hemorrhagic telangiectasia: the InHIBIT-Bleed study

Hanny Al-Samkari et al.

Summary: Systemic bevacizumab was found to be safe and effective in managing chronic bleeding and anemia in HHT patients, leading to increased hemoglobin levels and reduced severity of nosebleeds. The number of red blood cell units transfused and iron infusions significantly decreased after treatment, with similar efficacy observed regardless of the underlying pathogenic mutation.

HAEMATOLOGICA (2021)

添加到收藏夹

Editorial Material Genetics & Heredity

Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North America

Alexandre P. Garneau et al.

JOURNAL OF MOLECULAR MEDICINE-JMM (2021)

添加到收藏夹

Article Genetics & Heredity

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

Karina Forde et al.

Summary: This case series presents the use of miransertib in two pediatric patients with PROS, showing objective clinical response in one patient and improvement in key qualitative outcomes in another. Treatment was well tolerated with no significant toxicities reported, highlighting the potential therapeutic utility of miransertib in selected pediatric patients with severe PROS and demonstrating the possibility of repurposing targeted therapies for rare diseases. An open label, Phase 1/2 study of miransertib in children with PROS and PS is currently underway to more accurately assess its efficacy in treating PROS disorder.

ORPHANET JOURNAL OF RARE DISEASES (2021)

添加到收藏夹

Article Clinical Neurology

Sirolimus Treatment in Sturge-Weber Syndrome

Alison J. Sebold et al.

Summary: Studies suggest sirolimus may be beneficial in improving cognitive impairments in patients with Sturge-Weber syndrome, especially those with impaired processing speed or a history of SLE. Further randomized controlled trials are needed to confirm these potential benefits.

PEDIATRIC NEUROLOGY (2021)

添加到收藏夹

Article Medicine, Research & Experimental

Patients with Congenital Low-Flow Vascular Malformation Treated with Low Dose Sirolimus

Veroniek E. M. Harbers et al.

Summary: Treatment with low-dose sirolimus showed high efficacy in patients with therapy-resistant and low-flow vascular malformations, with a lower incidence of serious adverse events. However, young female patients may develop serious menstrual disturbances during treatment with low-dose sirolimus, indicating the need for caution.

ADVANCES IN THERAPY (2021)

添加到收藏夹

Article Pediatrics

Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network

Annegret Holm et al.

Summary: Sirolimus can be considered as an effective and safe salvage treatment for patients with extensive lymphatic malformations even after tracheostomy, as it can successfully improve respiratory conditions and reduce reliance on tracheostomy. Further research is needed to better understand when to initiate sirolimus therapy, the duration of treatment, and factors predicting treatment response.

FRONTIERS IN PEDIATRICS (2021)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Genetic Basis and Therapies for Vascular Anomalies

Angela Queisser et al.

Summary: In recent years, research on genetic and somatic mutations in vascular and lymphatic malformations has led to the evaluation of preexisting cancer drugs that interfere with these signaling pathways, marking the beginning of personalized treatment for vascular anomalies.

CIRCULATION RESEARCH (2021)

添加到收藏夹

Review Genetics & Heredity

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

Guillaume Canaud et al.

Summary: PIK3CA-related disorders encompass a range of conditions involving overgrowth and vascular malformations caused by mutations in the PIK3CA gene. Diagnosis can be challenging due to overlapping phenotypes, and treatment response is typically assessed through clinical improvement, radiological response, and patient-reported outcomes. Current therapeutic options include the mTOR inhibitor sirolimus, but other agents targeting the PI3K pathway are under investigation. Management of these disorders requires a multidisciplinary approach, and ongoing clinical studies will provide further insights into treatment options.

ORPHANET JOURNAL OF RARE DISEASES (2021)

添加到收藏夹

Article Genetics & Heredity

Sirolimus in the treatment of kaposiform lymphangiomatosis

Jiangyuan Zhou et al.

Summary: Sirolimus shows promising potential in the treatment of KLA, with a partial response achieved in 58.3% of patients. The study suggests sirolimus is currently an option for KLA treatment, with hope for more specific therapies in the future.

ORPHANET JOURNAL OF RARE DISEASES (2021)

添加到收藏夹

Article Pediatrics

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib

Angelica Pagliazzi et al.

Summary: PIK3CA-related overgrowth spectrum (PROS) is a group of diseases caused by somatic gain-of-function mutations in the PIK3CA gene, characterized by sporadic conditions presenting with overgrowth and mosaic distribution. The severity of the disease varies, and traditional therapeutic approaches may be ineffective, leading to recent focus on specific molecules targeting the PI3K/AKT/mTOR pathway.

FRONTIERS IN PEDIATRICS (2021)

添加到收藏夹

Article Oncology

Refractory Head and Neck Lymphatic Malformation in Infants Treated With Sirolimus: A Case Series

Changhua Wu et al.

Summary: This retrospective study evaluated the efficacy and safety of sirolimus in infants with refractory head and neck lymphatic malformations. The results showed that sirolimus was effective in reducing LMs bulk and well tolerated, with some minor adverse effects reported.

FRONTIERS IN ONCOLOGY (2021)

添加到收藏夹

Article Pediatrics

Effectiveness of sirolimus in the treatment of complex lymphatic malformations: Single center report of 56 cases

Ruicheng Tian et al.

JOURNAL OF PEDIATRIC SURGERY (2020)

添加到收藏夹

Review Surgery

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

Cristiana Freixo et al.

JOURNAL OF VASCULAR SURGERY (2020)

添加到收藏夹

Article Oncology

Topical sirolimus for the treatment of cutaneous manifestations of vascular anomalies: A case series

Priscila Badia et al.

PEDIATRIC BLOOD & CANCER (2020)

添加到收藏夹

Article Oncology

Kaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels

Janet Crane et al.

PEDIATRIC BLOOD & CANCER (2020)

添加到收藏夹

Article Medicine, Research & Experimental

Kaposiform lymphangiomatosis effectively treated withMEKinhibition

Jessica B. Foster et al.

EMBO MOLECULAR MEDICINE (2020)

添加到收藏夹

Article Surgery

Sirolimus: A Rescue Drug to Control Complications of Extensive Venous Malformation

Mohamed Aly Abdelbaky et al.

EUROPEAN JOURNAL OF PEDIATRIC SURGERY REPORTS (2020)

添加到收藏夹

Article Dermatology

Use of topical rapamycin in the treatment of superficial lymphatic malformations

Pablo Garcia-Montero et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2019)

添加到收藏夹

Article Oncology

Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease

Kiersten W. Ricci et al.

PEDIATRIC BLOOD & CANCER (2019)

添加到收藏夹

Article Hematology

Thalidomide for the Management of Bleeding Episodes in Patients with Hereditary Hemorrhagic Telangiectasia: Effects on Epistaxis Severity Score and Quality of Life

Mehmet Baysal et al.

TURKISH JOURNAL OF HEMATOLOGY (2019)

添加到收藏夹

Letter Dermatology

Efficacy of sirolimus in the treatment of microcystic lymphatic malformation of the tongue

N. Ghariani Fetoui et al.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2019)

添加到收藏夹

Article Obstetrics & Gynecology

Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome

Juan Carlos Lopez Gutierrez et al.

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY (2019)

添加到收藏夹

Article Genetics & Heredity

The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies

Michio Ozeki et al.

ORPHANET JOURNAL OF RARE DISEASES (2019)

添加到收藏夹

Article Medicine, Research & Experimental

Sirolimus as treatment for 19 patients with refractory cervicofacial lymphatic malformation

Julie E. Strychowsky et al.

LARYNGOSCOPE (2018)

添加到收藏夹

Article Dermatology

Efficacy and absorption of topical sirolimus for the treatment of vascular anomalies in children: A case series

Sophie Le Sage et al.

PEDIATRIC DERMATOLOGY (2018)

添加到收藏夹

Article Surgery

Vascular Anomalies: From a Clinicohistologic to a Genetic Framework

Arin K. Greene et al.

PLASTIC AND RECONSTRUCTIVE SURGERY (2018)

添加到收藏夹

Article Dermatology

A case of microcystic lymphatic malformation successfully treated with topical sirolimus

Ercan Caliskan et al.

DERMATOLOGIC THERAPY (2018)

添加到收藏夹

Review Otorhinolaryngology

The use of thalidomide therapy for refractory epistaxis in hereditary haemorrhagic telangiectasia: systematic review

L. Harrison et al.

JOURNAL OF LARYNGOLOGY AND OTOLOGY (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot et al.

NATURE (2018)

添加到收藏夹

Article Genetics & Heredity

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

Jennifer Hammer et al.

ORPHANET JOURNAL OF RARE DISEASES (2018)

添加到收藏夹

Article Peripheral Vascular Disease

Temporal Evolution and Management of Fast Flow Vascular Anomalies in PTEN Hamartoma Tumor Syndrome

Sheena Pimpalwar et al.

INTERNATIONAL JOURNAL OF ANGIOLOGY (2018)

添加到收藏夹

Article Dermatology

Prospective pilot study on combined use of pulsed dye laser and 1% topical rapamycin for treatment of nonfacial cutaneous capillary malformation

Eun Jin Doh et al.

JOURNAL OF DERMATOLOGICAL TREATMENT (2017)

添加到收藏夹

Article Oncology

Successful Treatment of a Complex Vascular Malformation With Sirolimus and Surgical Resection

Dov C. Goldenberg et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2017)

添加到收藏夹

Article Oncology

Developmental pharmacokinetics of sirolimus: Implications for precision dosing in neonates and infants with complicated vascular anomalies

Tomoyuki Mizuno et al.

PEDIATRIC BLOOD & CANCER (2017)

添加到收藏夹

Article Pediatrics

Lymphatic Malformation in Newborns as the First Sign of Diffuse Lymphangiomatosis: Successful Treatment with Sirolimus

Nicola Laforgia et al.

NEONATOLOGY (2016)

添加到收藏夹

Article Pediatrics

Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies

Denise M. Adams et al.

PEDIATRICS (2016)

添加到收藏夹

Article Otorhinolaryngology

Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus

Sule Yesil et al.

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2015)

添加到收藏夹

Article Otorhinolaryngology

Airway response to sirolimus therapy for the treatment of complex pediatric lymphatic malformations

A. Sean Alemi et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2015)

添加到收藏夹

Article Medicine, Research & Experimental

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

Elisa Boscolo et al.

JOURNAL OF CLINICAL INVESTIGATION (2015)

添加到收藏夹

Review Oncology

Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex

Jeffrey P. MacKeigan et al.

NEURO-ONCOLOGY (2015)

添加到收藏夹

Article Oncology

Successful treatment of kaposiform lymphangiomatosis with sirolimus

Zuopeng Wang et al.

PEDIATRIC BLOOD & CANCER (2015)

添加到收藏夹

Article Pediatrics

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies

Michel Wassef et al.

PEDIATRICS (2015)

添加到收藏夹

Article Multidisciplinary Sciences

Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome

Marjorie J. Lindhurst et al.

SCIENTIFIC REPORTS (2015)

添加到收藏夹

Article Hematology

Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study

Rosangela Invernizzi et al.

LANCET HAEMATOLOGY (2015)

添加到收藏夹

Editorial Material Hematology

Thalidomide for hereditary haemorrhagic telangiectasia

Massimo Franchini et al.

LANCET HAEMATOLOGY (2015)

添加到收藏夹

Article Oncology

Kaposiform Lymphangiomatosis: Unifying Features of a Heterogeneous Disorder

Violet M. Fernandes et al.

PEDIATRIC BLOOD & CANCER (2015)

添加到收藏夹

Article Multidisciplinary Sciences

Targeting AKT1-E17K and the PI3K/AKT Pathway with an Allosteric AKT Inhibitor, ARQ 092

Yi Yu et al.

PLOS ONE (2015)

添加到收藏夹

Article Medicine, General & Internal

Bevacizumab in Patients With Hereditary Hemorrhagic Telangiectasia and Severe Hepatic Vascular Malformations and High Cardiac Output

Sophie Dupuis-Girod et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2012)

添加到收藏夹

Article Gastroenterology & Hepatology

Efficacy of Thalidomide for Refractory Gastrointestinal Bleeding From Vascular Malformation

Zhi-Zheng Ge et al.

GASTROENTEROLOGY (2011)

添加到收藏夹

Article Oncology

Oral Rapamycin in the Treatment of Patients With Hamartoma Syndromes and PTEN Mutation

Ionela Iacobas et al.

PEDIATRIC BLOOD & CANCER (2011)

添加到收藏夹

Article Oncology

Sirolimus for the Treatment of Complicated Vascular Anomalies in Children

Adrienne M. Hammill et al.

PEDIATRIC BLOOD & CANCER (2011)

添加到收藏夹

Medical Therapeutics for the Treatment of Vascular Anomalies: Part 3

相关参考文献

导出引文

分享论文