Updates in Genetic Testing for Head and Neck Vascular Anomalies

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)

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Article Biochemistry & Molecular Biology

Genomic profiling informs diagnoses and treatment in vascular anomalies

Dong Li et al.

Summary: Vascular anomalies, including lymphatic anomalies, can be life-threatening and difficult to diagnose. In this study, deep sequencing of DNA from affected tissues helped identify genetic causes and guide medical therapy for a significant number of participants.

NATURE MEDICINE (2023)

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Article Oncology

Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly

Jeremy M. Grenier et al.

Summary: Complex lymphatic anomalies are challenging to diagnose due to significant overlap among conditions. Genetic analysis has emerged as an additional diagnostic tool, as demonstrated in four cases with PIK3CA variants. The identification of PIK3CA led to targeted treatment with alpelisib, highlighting the genetic overlap among phenotypically diverse lymphatic anomalies.

PEDIATRIC BLOOD & CANCER (2023)

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Article Genetics & Heredity

Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth

Amber Bolli et al.

Summary: Capillary malformations are slow-flow vascular malformations that can be associated with undergrowth. Few genetic causes have been reported, including PIK3CA, GNAQ, and GNA11. Recently, a somatic pathogenic variant in AKT3 was identified in a case with similar symptoms, confirming the association. Further studies are needed to understand the underlying mechanism.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)

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Article Medicine, Research & Experimental

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

Sarah E. Sheppard et al.

Summary: Central conducting lymphatic anomaly (CCLA), a debilitating and potentially life-threatening disease, can be caused by congenital maldevelopment of the lymphatics. Through studying individuals with CCLA and microcystic lymphatic malformation, researchers identified pathogenic KRAS variants, which activate the RAS/MAPK pathway. Using cell and animal models, they found that MEK inhibition could effectively reduce lymphatic dysplasia and edema. These findings suggest that MEK inhibition should be further investigated as a targeted therapy for CCLA caused by activating KRAS pathogenic variants.

JCI INSIGHT (2023)

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Article Genetics & Heredity

Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study

Victor Martinez-Glez et al.

Summary: Segmental undergrowth has been poorly characterized in patients with congenital vascular anomalies, and this study presents clinical and molecular characteristics of 37 patients with vascular malformations and undergrowth. Deep sequencing identified different groups associated with specific vascular malformations and detected likely pathogenic variants in certain genes. The study concludes that segmental undergrowth should be considered a characteristic associated with vascular malformations, and the term PROS does not cover the entire spectrum of overgrowth and undergrowth patterns in patients with PIK3CA variants.

CLINICAL GENETICS (2022)

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Article Pathology

Cellular variant of kaposiform lymphangiomatosis: a report of three cases, expanding the morphologic and molecular genetic spectrum of this rare entity

Wendy Allen-Rhoades et al.

Summary: Kaposiform lymphangiomatosis (KLA) is a rare disease that mainly affects children and young adults. It shares some cellular features with kaposiform hemangioendothelioma (KHE), but the two diseases have significant clinical, morphologic, and genetic differences.

HUMAN PATHOLOGY (2022)

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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)

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Article Peripheral Vascular Disease

A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis

F. Galeffi et al.

Summary: Sturge-Weber syndrome (SWS) is a rare neuro-cutaneous disorder caused by GNAQ gene mutations. A new Q209R mutation was identified, which may contribute to signal activation but is less common. Additionally, different GNAQ mutations exhibit varying levels of activation but have similar downstream effects.

ANGIOGENESIS (2022)

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Article Pediatrics

Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome

Taizo A. Nakano et al.

Summary: This study evaluated the effect of the RAS-MAPK pathway inhibitor trametinib on medically refractory chylous effusions in patients with Noonan syndrome. The results showed that trametinib improved lymphatic leak and normalized growth, cardiac, and hematologic measurements. Trametinib was safely administered, but larger studies are needed to confirm efficacy and assess long-term safety.

JOURNAL OF PEDIATRICS (2022)

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Article Clinical Neurology

GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features

Anne Dompmartin et al.

Summary: This study compared the phenotypic features of GNA11-SWS and classic SWS and found that they have different clinical and radiological manifestations, with GNA11-SWS showing milder symptoms compared to classic SWS.

EUROPEAN JOURNAL OF NEUROLOGY (2022)

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Article Biology

Genomic landscape of lymphatic malformations: a case series and response to the PI3Kα inhibitor alpelisib in an N-of-1 clinical trial

Montaser F. Shaheen et al.

Summary: This study examined the genomic landscape of patients with lymphatic malformations (LMs) and found distinct, yet targetable, driver mutations in patients with conventional or Kaposi sarcoma-like histology. This provides new insights for the treatment of LMs.

ELIFE (2022)

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Article Genetics & Heredity

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth

Tara L. Wenger et al.

Summary: This study reports the prospective treatment of 5 children with PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL) with alpelisib monotherapy. The treatment resulted in reduction in lesion size, improvement or resolution of malformation inflammation/pain/bleeding, and improvements in facial volume, swallowing, upper airway patency, and speech clarity.

GENETICS IN MEDICINE (2022)

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Article Genetics & Heredity

Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition

Kristiana Gordon et al.

Summary: The RASopathies are a group of genetic conditions caused by mutations in the RAS-MAPK pathway. Central conducting lymphatic abnormalities (CCLA) are a recently described complication associated with these conditions. CCLAs can have severe consequences, such as recurrent chylothoraces, chylopericardium, and chylous ascites, which can lead to significant morbidity and even death. Improved imaging techniques have enhanced our understanding of these complex abnormalities. Treatment is challenging, with diuretics and invasive mechanical drainages being the main approaches.

FRONTIERS IN GENETICS (2022)

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Article Genetics & Heredity

Somatic activating BRAF variants cause isolated lymphatic malformations

Kaitlyn Zenner et al.

Summary: Somatic activating variants in BRAF have been detected in lymphatic malformation patients without pathogenic PIK3CA variants, highlighting the complexity of low-flow lymphatic malformations and the importance of genetic diagnosis prior to therapy.

HUMAN GENETICS AND GENOMICS ADVANCES (2022)

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Article Genetics & Heredity

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

Kaitlyn Zenner et al.

Summary: Variants were detected in plasma from AVM and VeM patients, and in cyst fluid from patients with LM. These data support investigation of cfDNA-based molecular diagnostics for VM patients, which may provide opportunities to initiate targeted pharmacotherapies without prior surgery.

GENETICS IN MEDICINE (2021)

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Article Peripheral Vascular Disease

A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome

Maria Palmieri et al.

Summary: Our study conducted a comprehensive analysis of seven patients with Klippel-Trenaunay syndrome and found pathogenic mutations in the PIK3CA gene in all patients using cell-free DNA analysis. Tissue analysis confirmed the presence of the mutation at the malformation site in one amputated patient at a high molecular frequency, indicating its causative role. This study demonstrates that cell-free DNA-next generation sequencing-liquid biopsy can be an effective tool for diagnosis and personalized treatment of Klippel-Trenaunay syndrome.

VASCULAR (2021)

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Article Surgery

MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy

Maria Palmieri et al.

Summary: This study identified activating MET mutations in patients with lymphovenous malformations, confirming their causative role in the condition. Cell-free DNA next generation sequencing liquid biopsy was demonstrated as a viable method for detecting MET mutations in affected tissues, offering a noninvasive and potentially groundbreaking approach to diagnosis and personalized therapy for lymphovenous malformations.

JOURNAL OF VASCULAR SURGERY-VENOUS AND LYMPHATIC DISORDERS (2021)

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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)

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Article Cell Biology

Alpelisib administration reduced lymphatic malformations in a mouse model and in patients

Florence Delestre et al.

Summary: This study demonstrates the efficacy of the PIK3CA inhibitor alpelisib in a genetic mouse model of PIK3CA-related lymphatic malformations. Treatment with alpelisib showed improvements in lymphatic anomalies and extended survival. Adverse events were observed in two patients during the study, highlighting the need for further research on the safety and efficacy of this therapeutic strategy.

SCIENCE TRANSLATIONAL MEDICINE (2021)

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Review Dentistry, Oral Surgery & Medicine

Radiographic extent of maxillofacial Gorham's disease and its impact on recurrence: A systematic review

Kaustubh Sansare et al.

Summary: This systematic review found that mandible was the most common site for maxillofacial Gorham's disease and the radiographic extent of the lesion does not significantly affect recurrence.

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY (2021)

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Article Medicine, Research & Experimental

Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant

Whitney Eng et al.

Summary: Parkes Weber syndrome is a vascular malformation condition primarily affecting the legs, characterized by arteriovenous fistulas and limb enlargement. It has been linked to pathogenic germline variants in RASA1 and EPHB4, as well as somatic KRAS variants associated with lymphatic malformations.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2021)

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Article Genetics & Heredity

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Catherine E. Cottrell et al.

Summary: Somatic variants in the PIK3R1 gene, similar to cancer-associated variants, cause complex vascular malformations and overgrowth. The phenotypic spectrum associated with PIK3R1 overlaps with the PIK3CA-related overgrowth spectrum, including features like mixed vascular malformations, macrodactyly, lymphatic malformations, venous ectasias, and overgrowth of tissues or bones. This study expands our understanding of the diverse phenotypic spectrum caused by genetic variations in the PI3K-AKT pathway.

GENETICS IN MEDICINE (2021)

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Article Dermatology

Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment

Ana I. Rodriguez Bandera et al.

Summary: Infantile hemangioma (IH) is the most common pediatric vascular tumor, with poorly understood pathogenesis thought to involve aberrant response of pluripotent stem cells. IH typically appears in the first few weeks of life and follows a characteristic trajectory of proliferation and involution, with clinical appearance depending on depth and distribution.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2021)

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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)

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Article Dermatology

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children The Observational-Phase Randomized Clinical PERFORMUS Trial

Annabel Maruani et al.

Summary: This study aimed to evaluate the efficacy and safety of sirolimus in treating children with slow-flow vascular malformations. Results showed that sirolimus significantly reduced volume and pain for children with pure lymphatic malformations. Overall, sirolimus had positive effects on pain, bleeding, oozing, self-assessed efficacy, and quality of life.

JAMA DERMATOLOGY (2021)

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Article Dermatology

Association of Demographic Factors and Infantile Hemangioma Characteristics With Risk of PHACE Syndrome

Colleen H. Cotton et al.

Summary: This study investigated the risk factors associated with PHACE syndrome, finding that larger surface area and involvement of multiple locations were high-risk factors, while involvement of the parotid gland and segment S2 were associated with lower risk. Race and ethnicity may also play a role in the risk of PHACE syndrome, but further research is needed.

JAMA DERMATOLOGY (2021)

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Article Genetics & Heredity

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

Nicole Revencu et al.

JOURNAL OF MEDICAL GENETICS (2020)

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Letter Dermatology

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

Maud Jordan et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2020)

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Article Pathology

Kaposiform hemangioendothelioma and tufted angioma - (epi)genetic analysis including genome-wide methylation profiling

Roel W. Ten Broek et al.

ANNALS OF DIAGNOSTIC PATHOLOGY (2020)

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Letter Dermatology

GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses

Satyamaanasa Polubothu et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2020)

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Article Multidisciplinary Sciences

Arteriovenous Malformation MAP2K1 Mutation Causes Local Cartilage Overgrowth by a Cell-Non Autonomous Mechanism

Dennis J. Konczyk et al.

SCIENTIFIC REPORTS (2020)

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Article Biochemistry & Molecular Biology

Endothelial MAP2K1 mutations in arteriovenous malformation activate the RAS/MAPK pathway

Patrick J. Smits et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2020)

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Article Genetics & Heredity

A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease

Akifumi Nozawa et al.

JOURNAL OF HUMAN GENETICS (2020)

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Review Genetics & Heredity

Mosaicism in Human Health and Disease

Jeremy Thorpe et al.

ANNUAL REVIEW OF GENETICS, VOL 54, 2020 (2020)

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Article Dermatology

Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth

Xavier Cubiro et al.

PEDIATRIC DERMATOLOGY (2020)

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Article Medicine, Research & Experimental

Kaposiform lymphangiomatosis effectively treated withMEKinhibition

Jessica B. Foster et al.

EMBO MOLECULAR MEDICINE (2020)

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Article Pediatrics

Monitoring Arteriovenous Malformation Response to Genotype-Targeted Therapy

Emily A. Edwards et al.

PEDIATRICS (2020)

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Article Pediatrics

Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation

Yoav Dori et al.

PEDIATRICS (2020)

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Article Genetics & Heredity

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Whitney L. Wooderchak-Donahue et al.

GENETICS IN MEDICINE (2019)

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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)

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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)

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Article Multidisciplinary Sciences

Use of FFPE-derived DNA in next generation sequencing: DNA extraction methods

Samantha J. McDonough et al.

PLOS ONE (2019)

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Article Dentistry, Oral Surgery & Medicine

Oral pyogenic granulomas show MAPK/ERK signaling pathway activation, which occurs independently of BRAF, KRAS, HRAS, NRAS, GNA11, and GNA14 mutations

Thais dos Santos Fontes Pereira et al.

JOURNAL OF ORAL PATHOLOGY & MEDICINE (2019)

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Article Genetics & Heredity

Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort

Samantha N. McNulty et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Genetics & Heredity

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1

Daniel A. Snellings et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Genetics & Heredity

Arteriovenous malformation associated with a HRAS mutation

Dennis J. Konczyk et al.

HUMAN GENETICS (2019)

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Article Clinical Neurology

High prevalence of KRAS/BRAF somatic mutations in brain and spinal cord arteriovenous malformations

Tao Hong et al.

BRAIN (2019)

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Article Genetics & Heredity

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis

Sarah F. Barclay et al.

GENETICS IN MEDICINE (2019)

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Article Immunology

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

Lara Rodriguez-Laguna et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2019)

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Article Multidisciplinary Sciences

Somatic mutations in intracranial arteriovenous malformations

Jeremy A. Goss et al.

PLOS ONE (2019)

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Article Medicine, Research & Experimental

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations

Kaitlyn Zenner et al.

JCI INSIGHT (2019)

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Article Radiology, Nuclear Medicine & Medical Imaging

Common (Cystic) Lymphatic Malformations: Current Knowledge and Management

Josee Dubois et al.

TECHNIQUES IN VASCULAR AND INTERVENTIONAL RADIOLOGY (2019)

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Article Genetics & Heredity

Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation

Philip E. Lapinski et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2018)

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Article Medicine, Research & Experimental

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Lara Al-Olabi et al.

JOURNAL OF CLINICAL INVESTIGATION (2018)

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Article Dermatology

Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics

Dawn H. Siegel et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2018)

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Review Medicine, Research & Experimental

Treatment of Lymphatic Malformations with the mTOR Inhibitor Sirolimus: A Systematic Review

Susanne Wiegand et al.

LYMPHATIC RESEARCH AND BIOLOGY (2018)

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Article Medicine, General & Internal

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain

S. I. Nikolaev et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

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Article Multidisciplinary Sciences

PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations

Hannah Blesinger et al.

PLOS ONE (2018)

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Review Medicine, Research & Experimental

Treatment of Lymphatic Malformations with the mTOR Inhibitor Sirolimus: A Systematic Review

Susanne Wiegand et al.

LYMPHATIC RESEARCH AND BIOLOGY (2018)

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Article Multidisciplinary Sciences

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot et al.

NATURE (2018)

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Article Dermatology

Verrucous hemangioma (also known as verrucous venous malformation): A vascular anomaly frequently misdiagnosed as a lymphatic malformation

Olivia Boccara et al.

PEDIATRIC DERMATOLOGY (2018)

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Review Genetics & Heredity

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause

Dawn H. Siegel

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

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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)

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Article Pediatrics

Sirolimus in the Treatment of Vascular Anomalies

Paloma Triana et al.

EUROPEAN JOURNAL OF PEDIATRIC SURGERY (2017)

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Article Dermatology

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Julie Soblet et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2017)

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Review Medicine, General & Internal

Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations A case report and literature review

Jiang Lihua et al.

MEDICINE (2017)

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Article Cardiac & Cardiovascular Systems

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere et al.

CIRCULATION (2017)

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Article Peripheral Vascular Disease

A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth

Javier A. Couto et al.

ANGIOGENESIS (2017)

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Article Genetics & Heredity

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation

Javier A. Couto et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

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Article Genetics & Heredity

GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation

Young H. Lim et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

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Correction Genetics & Heredity

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma (vol 98, pg 789, 2016)

Ugur M. Ayturk et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

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Article Dermatology

BRAF and RAS Mutations in Sporadic and Secondary Pyogenic Granuloma

Leopold Groesser et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2016)

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Article Pediatrics

PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations

Maria C. Garzon et al.

JOURNAL OF PEDIATRICS (2016)

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Article Multidisciplinary Sciences

Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling

Zinan Zhou et al.

NATURE (2016)

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Article Pediatrics

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

Denise M. Adams et al.

PEDIATRICS (2016)

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Article Cell Biology

Somatic PIK3CA mutations as a driver of sporadic venous malformations

Pau Castel et al.

SCIENCE TRANSLATIONAL MEDICINE (2016)

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Editorial Material Radiology, Nuclear Medicine & Medical Imaging

Embolization of High-Flow Arteriovenous Malformation

Brian Funaki et al.

SEMINARS IN INTERVENTIONAL RADIOLOGY (2016)

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Article Genetics & Heredity

Somatic Activating PIK3CA Mutations Cause Venous Malformation

Nisha Limaye et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

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Article Genetics & Heredity

A Somatic MAP3K3 Mutation Is Associated with Verrucous Venous Malformation

Javier A. Couto et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

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Article Pediatrics

Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

Valerie L. Luks et al.

JOURNAL OF PEDIATRICS (2015)

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Review Dermatology

Capillary malformations: a classification using specific names for specific skin disorders

R. Happle

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2015)

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Article Pediatrics

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

Michel Wassef et al.

PEDIATRICS (2015)

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Article Biochemistry & Molecular Biology

Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations

Alexander J. Osborn et al.

HUMAN MOLECULAR GENETICS (2015)

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Article Pediatrics

Lymphatic malformations: Diagnosis and management

Ravindhra G. Elluru et al.

SEMINARS IN PEDIATRIC SURGERY (2014)

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Article Genetics & Heredity

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

Mustapha Amyere et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

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Article Genetics & Heredity

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

Whitney L. Wooderchak-Donahue et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

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Article Genetics & Heredity

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revencu et al.

HUMAN MUTATION (2013)

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Article Medicine, General & Internal

Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

Matthew D. Shirley et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

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Article Genetics & Heredity

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