Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles...
Transcript of Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles...
![Page 1: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/1.jpg)
Classification des Malformations vasculaires
Gilles Soulez, MD, MSc, FSIR
Professeur Titulaire et Chairman
Dpt Radiologie, Radio-Oncologie et Medecine Nucléaire
Université de Montréal
![Page 2: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/2.jpg)
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
![Page 3: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/3.jpg)
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
![Page 4: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/4.jpg)
2018 ISSVA classification
![Page 5: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/5.jpg)
![Page 6: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/6.jpg)
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
![Page 7: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/7.jpg)
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
![Page 8: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/8.jpg)
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
![Page 9: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/9.jpg)
Kaposiform hemangioendothelioma
![Page 10: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/10.jpg)
![Page 11: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/11.jpg)
• Clinically obvious
• From birth
• Initially ASx
• Watch for deeper, more dangerous lesion!
Capillary malformations (CM)a.k.a. cutaneous angioma
MG8
MG7
![Page 12: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/12.jpg)
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
![Page 13: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/13.jpg)
![Page 14: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/14.jpg)
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
![Page 15: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/15.jpg)
![Page 16: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/16.jpg)
![Page 17: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/17.jpg)
Venous malformation
• Low flow
• Most frequent• Head and neck 40%
• Body 20%
• Limbs 40%
• Expansion • Valsalva
• Dependent position
• Bluish coloration
![Page 18: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/18.jpg)
VM & MRI
• Best examination for extension
• T2 (STIR), T1 and T1 fat sat post gado
![Page 19: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/19.jpg)
![Page 20: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/20.jpg)
Arterio-venous malformation
• High-flow malformation• AV-shunting
• Nidus
• Congenital• Expansion
• Teenage
• Pregnancy
![Page 21: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/21.jpg)
Schobinger classification
Stage 1: Quiescent• Pink-bluish stain
• Warm
• Arteriovenous shunting (DUS)
(Clinical staging system to grade the evolution of AVMs)
![Page 22: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/22.jpg)
Schobinger classification Stage 2: Expansion
• Darkening blush stain
• Pulsations
• Thrill
• Bruit
• Tortuous/tense veins
Stage 1 +
![Page 23: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/23.jpg)
Schobinger classification Stage 3: Destruction
• Steal • Distal ischemia • Dystrophic skin changes • Ulceration • Bleeding• Persistent pain • Tissues necrosis • Soft tissues and bones changes
Stage 2 +
![Page 24: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/24.jpg)
Schobinger classification
Stage 4: Decompensation
• High output cardiac failure Stage 3 +
![Page 25: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/25.jpg)
![Page 26: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/26.jpg)
![Page 27: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/27.jpg)
Associated syndromes
![Page 28: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/28.jpg)
Klippel trenaunay• Limb hypertrophy
• Cutaneous angioma
• Venous and or lymphatic
• R/O hypoplasia deep venous system
• Sclerosis of varicose vein
![Page 29: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/29.jpg)
Unclassified
![Page 30: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/30.jpg)
FAVA
![Page 31: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/31.jpg)
Intramuscular hemangioma = NICH ?
• Intra muscular vascular tumor
• Hypervascular
• No AV shunting
• Surgery
![Page 32: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/32.jpg)
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)
![Page 33: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/33.jpg)
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
![Page 34: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/34.jpg)
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
![Page 35: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/35.jpg)
2 major pathways
![Page 36: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/36.jpg)
Gene associated with vascular anomalies
![Page 37: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/37.jpg)
Gene associated with vascular anomalies (2)
![Page 38: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/38.jpg)
Gene associated with vascular anomalies (3)
![Page 39: Classification des Malformations vasculairesClassification des Malformations vasculaires Gilles Soulez, MD, MSc, FSIR Professeur Titulaire et Chairman Dpt Radiologie, Radio-Oncologie](https://reader035.fdocuments.us/reader035/viewer/2022062609/60fc8e8566619f379c634495/html5/thumbnails/39.jpg)
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….