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Classification des Malformations vasculaires
Gilles Soulez, MD, MSc, FSIR
Professeur Titulaire et Chairman
Dpt Radiologie, Radio-Oncologie et Medecine Nucléaire
Université de Montréal
Basic principles
• Use an appropriate terminology• New ISSVA classification
• Always correlate imaging findings with clinical history and examination
• Phenotyping
• Link between genetic and phenotyping will be the key to improve our understanding and find specific therapeutic target
CLASSIFICATIONS
Hamburg classification 1993(surgeons, pathologists)Truncular and extratruncular lesionsVM/LM/AVM/combined
ISSVA Classification 1982/1996
(clinical)tumors and malformations : slow Flow and high Flow
New ISSVA classification March 2014Updated May 2018
2018 ISSVA classification
Infantile hemangioma
• Infantile hemangioma• Growth 0-1 year
• Stabilization 1-2 year
• Regression 2-5 year
• Glut 1 +
• Conservative management
• Propanolol, interferon, vincristin for complicated cases
Infantile hemangioma
• Penetration• Skin, subcutaneous tissue,
or both (superficial, deep, or mixed)
• Pattern of distribution• Focal, multifocal,
segmental or indeterminate
Deep hemangioma
Superficial segmental hemangioma
Congenital hemangioma
• RICH (rapidly involuted congenital hemangioma)
• Completely grown at birth
• Regression 12-14 months
• Glut –
• NICH(non-involuted congenital hemangioma)
• Completely grown at birth
• No involution
• Growth during teenage
• Glut –
• PICH • Partially involutive
Kaposiform hemangioendothelioma
• Clinically obvious
• From birth
• Initially ASx
• Watch for deeper, more dangerous lesion!
Capillary malformations (CM)a.k.a. cutaneous angioma
MG8
MG7
Diapositive 11
MG8 Usually known as “Port-wine stain”
Eventually soft tissue & bony overgrowthMarie-France Giroux; 11/05/2015
MG7 Actually, this patient has Klippel-Trenaunay syndromeMarie-France Giroux; 11/05/2015
Lymphatic malformation
• Cystic cavity lined by an endothelial layer filled by a lymphatic fluid
• ML macrocystic (> 2cm3)
• ML microcystic (< 2cm3)
• Mixed lesion (micro-macro)
• Mixed lesion lymphatic and venous
• Present at birth
• Growth childhood-teenage
Venous malformation
• Low flow
• Most frequent• Head and neck 40%
• Body 20%
• Limbs 40%
• Expansion • Valsalva
• Dependent position
• Bluish coloration
VM & MRI
• Best examination for extension
• T2 (STIR), T1 and T1 fat sat post gado
Arterio-venous malformation
• High-flow malformation• AV-shunting
• Nidus
• Congenital• Expansion
• Teenage
• Pregnancy
Schobinger classification
Stage 1: Quiescent• Pink-bluish stain
• Warm
• Arteriovenous shunting (DUS)
(Clinical staging system to grade the evolution of AVMs)
Schobinger classification Stage 2: Expansion
• Darkening blush stain
• Pulsations
• Thrill
• Bruit
• Tortuous/tense veins
Stage 1 +
Schobinger classification Stage 3: Destruction
• Steal • Distal ischemia • Dystrophic skin changes • Ulceration • Bleeding• Persistent pain • Tissues necrosis • Soft tissues and bones changes
Stage 2 +
Schobinger classification
Stage 4: Decompensation
• High output cardiac failure Stage 3 +
Associated syndromes
Klippel trenaunay• Limb hypertrophy
• Cutaneous angioma
• Venous and or lymphatic
• R/O hypoplasia deep venous system
• Sclerosis of varicose vein
Unclassified
FAVA
Intramuscular hemangioma = NICH ?
• Intra muscular vascular tumor
• Hypervascular
• No AV shunting
• Surgery
Vascular anomalies & genetic
• Consequence of improper development and maintenance of the vasculature
• Usually sporadic• Inherited forms
• Genes encoding bone morphogenic protein/transforming growth factor-β (TGFβ) receptor
• HHT and GVM• Genes producing an endothelial cell signaling complex
• Cerebral cavernous malformations (CCM)• RASA1
• capillary malformation-arteriovenous malformation (CMAVM)• Weakly activating mutations in TIE2/TEK
• Cutaneomucosal venous malformations (VMCMs)
Vascular anomalies &genetic
• Inherited cases 50% of the alleles affected
• Inherited cases share the following features• Multifocality
• Small size
• Increase in the number of lesions
• Some mutation carriers do not have any lesions
• Tissular second-hit• another non-inherited mutation on the second allele of the gene
Sporadic lesions can be due only to somatic mutations• 60% of VMs have TIE2/TEK mutations
• Mosaic somatic mutations have been identified in most type of vascular anomalies
• VMs, CMs, LMS, PG, NICH, RICH
• Genes identified in sporadic cases are ubiquitously expressed and code for proteins in major pathways with no specificity to the vasculature
• Somatic mutations that give rise to an isolated vascular anomaly occur in vascular ECs only
• More extensive mosaicism can be seen in syndromic forms, such asKlippel–Trenaunay syndrome
2 major pathways
Gene associated with vascular anomalies
Gene associated with vascular anomalies (2)
Gene associated with vascular anomalies (3)
Conclusion
• Classification currently integrate clinical phenotyping and attempt to make a link with genetic
• Imaging is key for phenotyping and unfortunately is not used in the classification….