Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles...
Transcript of Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles...
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….