Neurosurgery notes/Vascular/Vascular tumours

Vascular tumours

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Parent item
Vascular
Sub-item
Cavernous Hemangioma
Types of vascular disease
Flow
Pressure
Presence of Nidus
Any intervening brain tissue
Most common Sign and symptoms
AVM
High
High
Yes
No
Haemorrhage, seizure
AVF
High
High
No
No
Venous angiomas
Low
Low
No
Yes
Seizure, haemorrhage
Capillary telangiectasia
Low
Low
No
Yes
Haemorrhage
Cavernomas
Low
Low
No
No
Seizure
Carotid-cavernous fistula (Direct)
High
High
No
No
Exophthalmos + chemosis + visual loss
Carotid-cavernous fistula (Indirect)
Low
Low
No
No
Bruits, proptosis, chemosis

High Flow

  • Cerebral AVM
  • Cerebral proliferative angiopathy
  • Dural arteriovenous fistula
  • Pial arteriovenous fistula

Low Flow

  • Capillary telangiectasia
  • Cavernous malformation
  • Venous malformations
  • Mixed vascular malformation

ISSVA classification for vascular anomalies 2014 (2018 Update):

Vascular anomalies
      Vascular tumors
      Vascular malformations
      Types
      Simple
      Combined°
      of major named vessels
      associated with other anomalies
      Benign
      Locally aggressive or borderline
      Malignant
      Capillary malformations
      Lymphatic malformations
      Venous malformations
      Arteriovenous malformations*
      Arteriovenous fistula*
      CVM, CLM

      LVM, CLVM

      CAVM*

      CLAVM*

      others
      See details
      See list
      °Defined as two or more vascular malformations found in one lesion
      *High-flow lesions
Vascular tumours
Benign vascular tumors
  • Infantile hemangioma / Hemangioma of infancy
      • Pattern
      Different types
      - Focal
      - Multifocal
      - Segmental
      - Indeterminate
      - Superficial
      - Deep
      - Mixed (superficial + deep)
      - Reticular / abortive / minimal growth
      - Others
      Types
      Causal genes
      Congenital hemangioma
      • Rapidly involuting (RICH) *
      • Non-involuting (NICH)
      • Partially involuting (PICH)
      GNAQ / GNA11
      Tufted angioma * °
      GNA14
      Spindle-cell hemangioma
      IDH1 / IDH2
      Epithelioid hemangioma
      FOS
      Pyogenic granuloma (aka lobular capillary hemangioma)
      BRAF / RAS / GNA14
      Others
      • Hobnail hemangioma
      • Microvenular hemangioma
      • Anastomosing hemangioma
      • Glomeruloid hemangioma
      • Papillary hemangioma
      • Intravascular papillary endothelial hyperplasia
      • Cutaneous epithelioid angiomatous nodule
      • Acquired elastotic hemangioma
      • Littoral cell hemangioma of the spleen
      -
      Related lesions
      • Eccrine angiomatous hamartoma
      • Reactive angioendotheliomatosis
      • Bacillary angiomatosis
      -
    • * Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy see details
      ° Many experts believe that tufted angioma and kaposiform hemangioendothelioma are part of a spectrum rather than distinct entities
Locally aggressive or borderline vascular tumors
      Types
      Causal genes
      Kaposiform hemangioendothelioma * °
      GNA14
      Retiform hemangioendothelioma
      -
      Papillary intralymphatic angioendothelioma (PILA), Dabska tumor
      -
      Composite hemangioendothelioma
      -
      Pseudomyogenic hemangioendothelioma
      FOSB
      Polymorphous hemangioendothelioma
      -
      Hemangioendothelioma not otherwise specified
      -
      Kaposi sarcoma
      -
      Others
      -
    • * Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy see details
      ° Many experts believe that tufted angioma and kaposiform hemangioendothelioma are part of a spectrum rather than distinct entities
Malignant vascular tumors
      Types
      Causal genes
      Angiosarcoma
      (Post radiation) MYC
      Epithelioid hemangioendothelioma
      CAMTA1 / TFE3
      Others
      ㅤ
Hemangiomas are further sub-classified by pattern and location to encompass syndromic associations such as PHACES and LUMBAR
  • Association with other lesions
      • PHACE association / syndrome
      Posterior fossa malformations, Hemangioma, Arterial anomalies, Cardiovascular anomalies, Eye anomalies, Sternal clefting and/or supraumbilical raphe
      LUMBAR (SACRAL, PELVIS) association / syndrome
      Lower body hemangioma, Urogenital anomalies, Ulceration, Myelopathy, Bony deformities, Anorectal malformations, Arterial anomalies, and Renal anomalies
Vascular malformations
  • are divided into 2 different types based on vessel types that are involved.
    • Simple
      • Each simple malformation (capillary, venous, lymphatic, lymphedema, and arterio-venous) is then subdivided into known subtypes.
          • Capillary malformations (CM)
          Subtypes
          Causal genes
          Nevus simplex / salmon patch, "angel kiss", "stork bite”
          -
          Cutaneous and/or mucosal CM (also known as "port-wine" stain)
          • Nonsyndromic CM
          • CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)
          • CM with bone and/or soft tissues overgrowth
          • Diffuse CM with overgrowth (DCMO)

          GNAQ
          GNAQ
          GNA11
          GNA11
          Reticulate CM
          • CM of MIC-CAP (microcephaly-capillary malformation)
          • CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)

          STAMBP
          PIK3CA
          CM of CM-AVM
          RASA1 / EPHB4
          Cutis marmorata telangiectatica congenita (CMTC)
          -
          Others
          -
          Telangiectasia*
          • Hereditary hemorrhagic telangiectasia (HHT)
          • Others

          1. ENG, 2. ACVRL1, 3. SMAD4
          Common (cystic) LM *
          • Macrocystic LM
          • Microcystic LM
          • Mixed cystic LM
          PIK3CA
          Generalized lymphatic anomaly (GLA)
          • Kaposiform lymphangiomatosis (KLA)
          -
          LM in Gorham-Stout disease
          -
          Channel type LM
          -
          "Acquired" progressive lymphatic anomaly (so called acquired progressive "lymphangioma")
          -
          Primary lymphedema (different types)
          -
          Others
          -
          Telangiectasia*
          • Hereditary hemorrhagic telangiectasia (HHT)
          • Others

          HHT1 ENG, HHT2 ACVRL1, HHT3, JPHT SMAD4
          -
          • * The CM nature of some subtypes of telangiectasia is debated. Some telangiectasia may be reclassified in other sections in the future
          Lymphatic malformations (LM)
          Subtypes
          Causal genes
          Common (cystic) LM *
          • Macrocystic LM
          • Microcystic LM
          • Mixed cystic LM
          PIK3CA
          Generalized lymphatic anomaly (GLA)
          • Kaposiform lymphangiomatosis (KLA)
          ㅤ
          LM in Gorham-Stout disease
          ㅤ
          Channel type LM
          ㅤ
          "Acquired" progressive lymphatic anomaly (so called acquired progressive "lymphangioma")
          ㅤ
          Primary lymphedema (different types)
          ㅤ
          Others
          ㅤ
          • * When associated with overgrowth, some of these lesions belong to the PIK3CA-related overgrowth spectrum see details
          • Some of these lesions may be associated with thrombocytopenia and/or consumptive coagulopathy see details
          Primary lymphedema
          Subtypes
          Causal genes
          Nonne-Milroy syndrome
          FLT4 / VEGFR3
          Primary hereditary lymphedema
          VEGFC
          Primary hereditary lymphedema
          GJC2 / Connexin 47
          Lymphedema-distichiasis
          FOXC2
          Hypotrichosis-lymphedema-telangiectasia
          SOX18
          Primary lymphedema with myelodysplasia
          GATA2
          Primary generalized lymphatic anomaly (Hennekam lymphangiectasia-lymphedema syndrome)
          CCBE1
          Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
          KIF11
          Lymphedema-choanal atresia
          PTPN14
          Venous malformations (VM)
          Subtypes
          Causal genes
          Common VM
          TEK (TIE2) / PIK3CA
          Familial VM cutaneo-mucosal (VMCM)
          TEK (TIE2)
          Blue rubber bleb nevus (Bean) syndrome VM
          TEK (TIE2)
          Glomuvenous malformation (GVM)
          Glomulin
          Cerebral cavernous malformation (CCM)
          CCM1 KRIT1, CCM2 Malcavernin, CCM3 PDCD10
          Familial intraosseous vascular malformation (VMOS)
          ELMO2
          Verrucous venous malformation (formerly verrucous hemangioma)
          MAP3K3
          Others
          ㅤ
          • Some of these lesions may be associated with thrombocytopenia and/or consumptive coagulopathy see details
          Arteriovenous malformations (AVM)
          Subtypes
          Causal genes
          Sporadic
          MAP2K1
          In HHT
          HHT1 ENG, HHT2 ACVRL1, HHT3, JPHT SMAD4
          In CM-AVM
          RASA1 / EPHB4
          Others
          ㅤ
          Arteriovenous fistula (AVF) (congenital)
          Subtypes
          Causal genes
          Sporadic
          MAP2K1
          In HHT
          HHT1 ENG, HHT2 ACVRL1, HHT3, JPHT SMAD4
          In CM-AVM
          RASA1 / EPHB4
          Others
          ㅤ
    • Combined
      • The combined vascular malformations are named specifically for the vessels involved in the malformation, allowing greater consistency with nomenclature and ease of communication between specialists
            • CM + VM
            capillary-venous malformation
            CVM
            CM + LM
            capillary-lymphatic malformation
            CLM
            CM + AVM
            capillary-arteriovenous malformation
            CAVM
            LM + VM
            lymphatic-venous malformation
            LVM
            CM + LM + VM
            capillary-lymphatic-venous malformation
            CLVM
            CM + LM + AVM
            capillary-lymphatic-arteriovenous malformation
            CLAVM
            CM + VM + AVM
            capillary-venous-arteriovenous malformation
            CVAVM
            CM + LM + VM + AVM
            capillary-lymphatic-venous-arteriovenous m.
            CLVAVM
        • Vascular malformations associated with other anomalies
            • Klippel-Trenaunay syndrome:*
            CM + VM +/- LM + limb overgrowth
            P1K3CA
            Parkes Weber syndrome:
            CM + AVF + limb overgrowth
            RASA1
            Servelle-Martorell syndrome:
            limb VM + bone undergrowth
            -
            Sturge-Weber syndrome:
            facial + leptomeningeal CM + eye anomalies +/- bone and/or soft tissue overgrowth
            GNAQ
            Limb CM + congenital non-progressive limb hypertrophy
            ㅤ
            GNA11
            Maffucci syndrome:
            VM +/- spindle-cell hemangioma + enchondroma
            IDH1/IDH2
            Macrocephaly - CM (M-CM / MCAP)*
            ㅤ
            PIK3CA
            Microcephaly - CM (MICCAP)
            ㅤ
            STAMBP
            CLOVES syndrome:*
            LM + VM + CM +/- AVM + lipomatous overgrowth
            PICK3CA
            Proteus syndrome:
            CM, VM and/or LM + asymmetrical somatic overgrowth
            AKT1
            Bannayan-Riley-Ruvalcaba sd:
            AVM + VM + macrocephaly, lipomatous overgrowth
            PTEN
            CLAPO syndrome:*
            lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth
            PIK3CA
          • These lesions belong to the PIK3CA-related overgrowth spectrum (PROS) see details

Anomalies of major named vessels

  • Also known as "channel type" or "truncal" vascular malformations
  • Affect
    • Lymphatics
    • Veins
    • Arteries
  • Anomalies of
    • Origin
    • Course
    • Number
    • Length
    • Diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm)
    • Valves
    • Communication (AVF)
    • Persistence (of embryonic vessel)

Vascular malformations associated with other anomalies

notion image

Provisionally unclassified vascular anomalies

Types
Causal genes
Intramuscular hemangioma *
ㅤ
Angiokeratoma
ㅤ
Sinusoidal hemangioma
ㅤ
Acral arteriovenous "tumour"
ㅤ
Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)
ㅤ
PTEN (type) hamartoma of soft tissue / "angiomatosis" of soft tissue (PHOST)
PTEN
Fibro adipose vascular anomaly (FAVA)
PIK3CA
  • * Distinct from infantile hemangioma, from intramuscular common VM, PHOST/AST, FAVA and AVM
    some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy see details

Abbreviations

Abbreviation
Full Name
Abbreviation
Full Name
AST
Angiomatosis of soft tissue
HHT
Hereditary hemorrhagic telangiectasia
AVF
Arteriovenous fistula
HI
Hemangioma of infancy / infantile hemangioma
AVM
Arteriovenous malformation
IH
Infantile hemangioma / hemangioma of infancy
CAT
Cutaneovisceral angiomatosis with thrombocytopenia
INR
International normalized ratio
CAVM
Capillary arteriovenous malformation
JPHT
Juvenile polyposis hemorrhagic telangiectasia
CCM
Cerebral cavernous malformation
KHE
Kaposiform hemangioendothelioma
CLAVM
Capillary lymphatic arteriovenous malformation
KLA
Kaposiform lymphangiomatosis
CLAPO
Lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth
KMP
Kasabach-Merritt phenomenon,
CLOVES
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal/scoliosis and spinal abnormalities
LM
Lymphatic malformation
CLM
Capillary lymphatic malformation
LVM
Lymphatic venous malformation
CLVAVM
Capillary lymphatic venous arteriovenous malformation
MCAP
Megalencephaly-capillary malformation-polymicrogyria
CLVM
Capillary lymphatic venous malformation
M-CM
Macrocephaly-capillary malformation
CM
Capillary malformation
MICCAP
Microcephaly-capillary malformation
CM-AVM
Capillary malformation-arteriovenous malformation
MLT
Multifocal lymphangioendotheliomatosis with thrombocytopenia
CMTC
Cutis marmorata telangiectatica congenita
NICH
Non-involuting congenital hemangioma
CNS
Central nervous system
PHACE
Posterior fossa malformations, hemangioma, arterial anomalies, cardiovascular anomalies, eye anomalies
CVAVM
Capillary venous arteriovenous malformation
PHOST
PTEN hamartoma of soft tissue
CVM
Capillary venous malformation
PILA
Papillary intralymphatic angioendothelioma
DCMO
Diffuse capillary malformation with overgrowth
PICH
Partially involuting congenital hemangioma
DIC
Disseminated intravascular coagulopathy
PROS
PIK3CA-related overgrowth spectrum
FAVA
Fibro adipose vascular anomaly
RICH
Rapidly involuting congenital hemangioma
GLA
Generalized lymphatic anomaly
TA
Tufted angioma
GSD
Gorham-Stout disease
VM
Venous malformation
GVM
Glomuvenous malformation
VMCM
Venous malformation cutaneo mucosal

Causal genes of vascular anomalies

Gene
Vascular Anomaly
ACVRL1
Telangiectasia, AVM and AVF of HHT2
AKT1
Proteus syndrome
BRAF
Pyogenic granuloma PG
CAMTA1
Epithelioid hemangioendothelioma EHE
CCBE1
Primary generalized lymphatic anomaly (Hennekam lymphangiectasia-lymphedema syndrome)
ELMO2
Familial intraosseous vascular malformation VMOS
ENG
Telangiectasia, AVM and AVF of HHT1
EPHB4
CM-AVM2
FLT4
Nonne-Milroy syndrome (gene also named VEGFR3)
FOS
Epithelioid hemangioma EH
FOSB
Pseudomyogenic hemangioendothelioma
FOXC2
Lymphedema-distichiasis
GATA2
Primary lymphedema with myelodysplasia
GJC2
Primary hereditary lymphedema
Glomulin
Glomuvenous malformation
GNA11
Congenital hemangioma CH
ㅤ
CM with bone and/or soft tissue hyperplasia
ㅤ
Diffuse CM with overgrowth DCMO
GNA14
Tufted angioma TA
ㅤ
Pyogenic granuloma PG
ㅤ
Kaposiform hemangioendothelioma KHE
GNAQ
Congenital hemangioma CH
ㅤ
CM "Port-wine" stain, nonsyndromic CM
ㅤ
CM of Sturge-Weber syndrome
IDH1
Maffucci syndrome
ㅤ
Spindle-cell hemangioma
IDH2
Maffucci syndrome
ㅤ
Spindle-cell hemangioma
KIF11
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
KRIT1
Cerebral cavernous malformation CCM1
Malcavernin
Cerebral cavernous malformation CCM2
MAP2K1
Arteriovenous malformation AVM (sporadic)
MAP2K1
Arteriovenous fistula AVF (sporadic)
MAP3K3
Verrucous venous malformation (somatic)
MYC
Post radiation angiosarcoma
NPM11
Maffucci syndrome
PDCD10
Cerebral cavernous malformation CCM3
PIK3CA
Common (cystic) LM (somatic)*
ㅤ
Common VM (somatic)*
ㅤ
Klippel-Trenaunay syndrome*
ㅤ
Megalencephaly-capillary malformation-polymicrogyria (MCAP)*
ㅤ
CLOVES syndrome*
ㅤ
CLAPO syndrome*
ㅤ
Fibro adipose vascular anomaly FAVA
PTEN
Bannayan-Riley-Ruvalcaba syndrome
ㅤ
PTEN (type) Hamartoma of soft tissue / "angiomatosis" of soft tissue
PTPN14
Lymphedema-choanal atresia
RAS
Pyogenic granuloma PG
RASA1
CM-AVM1
ㅤ
Parkes Weber syndrome
SMAD4
Telangiectasia, AVM and AVF of Juvenile polyposis hemorrhagic telangiectasia JPHT
SOX18
Hypotrichosis-lymphedema-telangiectasia
STAMBP
Microcephaly-CM (MIC-CAP)
TEK (TIE2)
Common VM (somatic)
ㅤ
Familial VM cutaneo-mucosal VMCM
ㅤ
Blue rubber bleb nevus (Bean) syndrome (somatic)
TFE3
Epithelioid hemangioendothelioma EHE
VEGFC
Primary hereditary lymphedema
VEGFR3
Nonne-Milroy syndrome (gene also named FLT4)
  • some of these lesions, associated with overgrowth, belong to the PIK3CA related overgrowth spectrum PROS see details

Vascular anomalies possibly associated with platelet count / coagulation disorders

Anomalies
Hematological disorders
Tufted angioma
Kaposiform hemangioendothelioma
Profound and sustained thrombocytopenia with profound hypofibrinogenemia, consumptive coagulopathy and elevated D-dimer (Kasabach-Merritt phenomenon)
Rapidly involuting congenital hemangioma
Transient mild/moderate thrombocytopenia, +/- consumptive coagulopathy and elevated D-Dimer
Venous malformations / Lymphatic-venous malformations
Chronic localized intravascular coagulopathy with elevated D-dimer, +/- hypofibrinogenemia, and +/- moderate thrombocytopenia (may progress to DIC after trauma or operation)
Lymphatic malformations
Chronic localized intravascular coagulopathy with elevated D-dimer and +/- mild to moderate thrombocytopenia (consider Kaposiform lymphangiomatosis) (may progress to DIC after trauma or operation)
Multifocal lymphangioendotheliomatosis with thrombocytopenia / Cutaneovisceral angiomatosis with thrombocytopenia
Sustained, fluctuating, moderate to profound thrombocytopenia with gastrointestinal tract bleeding or pulmonary hemorrhage
Kaposiform lymphangiomatosis
Mild/moderate thrombocytopenia, +/- hypofibrinogenemia, and D-dimer elevation

PIK3CA-related overgrowth spectrum

  • PIK3CA-related overgrowth spectrum (PROS) groups lesions with heterogeneous segmental overgrowth phenotypes -with or without vascular anomalies- due to somatic PIK3CA activating mutations.
  • This spectrum includes:
    • Fibroadipose Hyperplasia or Overgrowth (FAO)
    • Hemihyperplasia Multiple Lipomatosis (HHML)
    • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome
    • Macrodactyly
    • Fibroadipose Infiltrating Lipomatosis / Facial Infiltrative Lipomatosis
    • Megalencephaly-Capillary Malformation (MCAP or M-CM)
    • Dysplastic Megalencephaly (DMEG)
    • Klippel-Trenaunay syndrome