Molecular landscape and classification of vascular anomalies

2.

Queisser

A

,

Seront

E

,

Boon

LM

,

Vikkula

M.

Genetic basis and therapies for vascular anomalies

.

Circ Res

.

2021

;

129

(

1

):

155

-

173

.

3.

Boscolo

E

,

Limaye

N

,

Huang

L

, et al.

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

.

J Clin Invest

.

2015

;

125

(

9

):

3491

-

3504

.

4.

Limaye

N

,

Wouters

V

,

Uebelhoer

M

, et al.

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

.

Nat Genet

.

2009

;

41

(

1

):

118

-

124

.

5.

Seront

E

,

Boon

LM

,

Vikkula

M.

TEK-related venous malformations

. In:

Adam

MP

,

Mirzaa

GM

,

Pagon

RA

, et al, eds.

GeneReviews

.

University of Washington

;

1993

.

6.

Vikkula

M

,

Boon

LM

,

Carraway KL

III

, et al.

Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

.

Cell

.

1996

;

87

(

7

):

1181

-

1190

.

7.

Soblet

J

,

Kangas

J

,

Nätynki

M

, et al.

Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations

.

J Invest Dermatol

.

2017

;

137

(

1

):

207

-

216

.

8.

Limaye

N

,

Kangas

J

,

Mendola

A

, et al.

Somatic activating PIK3CA mutations cause venous malformation

.

Am J Hum Genet

.

2015

;

97

(

6

):

914

-

921

.

9.

Revencu

N

,

Boon

LM

,

Dompmartin

A

, et al.

Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth

.

Mol Syndromol

.

2013

;

4

(

4

):

173

-

178

.

10.

Kurek

KC

,

Luks

VL

,

Ayturk

UM

, et al.

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

.

Am J Hum Genet

.

2012

;

90

(

6

):

1108

-

1115

.

11.

Seront

E

,

Van Damme

A

,

Legrand

C

, et al.

Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations

.

JCI Insight

.

2023

;

8

(

21

):

e173095

.

12.

Venot

Q

,

Blanc

T

,

Rabia

SH

, et al.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

.

Nature

.

2018

;

558

(

7711

):

540

-

546

.

13.

Amyere

M

,

Aerts

V

,

Brouillard

P

, et al.

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations

.

Am J Hum Genet

.

2013

;

92

(

2

):

188

-

196

.

14.

Boon

LM

,

Mulliken

JB

,

Enjolras

O

,

Vikkula

M.

Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities

.

Arch Dermatol

.

2004

;

140

(

8

):

971

-

976

.

15.

Mäkinen

T

,

Boon

LM

,

Vikkula

M

,

Alitalo

K.

Lymphatic malformations: genetics, mechanisms and therapeutic strategies

.

Circ Res

.

2021

;

129

(

1

):

136

-

154

.

16.

Martinez-Corral

I

,

Zhang

Y

,

Petkova

M

, et al.

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

.

Nat Commun

.

2020

;

11

(

1

):

2869

.

17.

Zenner

K

,

Jensen

DM

,

Dmyterko

V

, et al.

Somatic activating BRAF variants cause isolated lymphatic malformations

.

HGG Adv

.

2022

;

3

(

2

):

100101

.

18.

Lala

S

,

Mulliken

JB

,

Alomari

AI

,

Fishman

SJ

,

Kozakewich

HP

,

Chaudry

G.

Gorham-Stout disease and generalized lymphatic anomaly–clinical, radiologic, and histologic differentiation

.

Skeletal Radiol

.

2013

;

42

(

7

):

917

-

924

.

19.

Trenor

CC

,

Chaudry

G.

Complex lymphatic anomalies

.

Semin Pediatr Surg

.

2014

;

23

(

4

):

186

-

190

.

20.

Rodriguez-Laguna

L

,

Agra

N

,

Ibañez

K

, et al.

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

.

J Exp Med

.

2019

;

216

(

2

):

407

-

418

.

21.

Barclay

SF

,

Inman

KW

,

Luks

VL

, et al.

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis

.

Genet Med

.

2019

;

21

(

7

):

1517

-

1524

.

22.

Foster

JB

,

Li

D

,

March

ME

, et al.

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

.

EMBO Mol Med

.

2020

;

12

(

10

):

e12324

.

23.

Manevitz-Mendelson

E

,

Leichner

GS

,

Barel

O

, et al.

Somatic NRAS mutation in patient with generalized lymphatic anomaly

.

Angiogenesis

.

2018

;

21

(

2

):

287

-

298

.

24.

Nozawa

A

,

Ozeki

M

,

Niihori

T

,

Suzui

N

,

Miyazaki

T

,

Aoki

Y.

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

.

J Hum Genet

.

2020

;

65

(

11

):

995

-

1001

.

25.

Ozeki

M

,

Aoki

Y

,

Nozawa

A

, et al.

Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis

.

Orphanet J Rare Dis

.

2019

;

14

(

1

):

215

.

26.

Li

D

,

Wenger

TL

,

Seiler

C

, et al.

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

.

Hum Mol Genet

.

2018

;

27

(

18

):

3233

-

3245

.

27.

Coccia

E

,

Valeri

L

,

Zuntini

R

, et al.

Prenatal clinical findings in RASA1- related capillary malformation-arteriovenous malformation syndrome

.

Genes (Basel)

.

2023

;

14

(

3

):

549

.

28.

Gallipoli

A

,

MacLean

G

,

Walia

JS

,

Sehgal

A.

Congenital chylothorax and hydrops fetalis: a novel neonatal presentation of RASA1 mutation

.

Pediatrics

.

2021

;

147

(

3

):

e2020011601

.

29.

Liu

M

,

Smith

CL

,

Biko

DM

, et al.

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

.

Eur J Hum Genet

.

2022

;

30

(

9

):

1022

-

1028

.

30.

Byrne

AB

,

Brouillard

P

,

Sutton

DL

, et al.

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

.

Sci Transl Med

.

2022

;

14

(

634

):

eabm4869

.

31.

Li

D

,

March

ME

,

Gutierrez-Uzquiza

A

, et al.

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

.

Nat Med

.

2019

;

25

(

7

):

1116

-

1122

.

32.

Shaheen

MF

,

Tse

JY

,

Sokol

ES

, et al.

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

.

Elife

. 5 July

2022

;

11

.

33.

Seront

E

,

Froidure

A

,

Revencu

N

, et al.

Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus

.

Orphanet J Rare Dis

.

2024

;

19

(

1

):

199

.

34.

Lee

MS

,

Liang

MG

,

Mulliken

JB

.

Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy

.

J Am Acad Dermatol

.

2013

;

69

(

4

):

589

-

594

.

35.

Shirley

MD

,

Tang

H

,

Gallione

CJ

, et al.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

.

N Engl J Med

.

2013

;

368

(

21

):

1971

-

1979

.

36.

Goss

JA

,

Konczyk

DJ

,

Smits

P

, et al.

Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants

.

Clin Genet

.

2020

;

97

(

5

):

736

-

740

.

37.

De Bortoli

M

,

Queisser

A

,

Pham

VC

, et al.

Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with capillary malformation with dilated veins (CMDV)

.

J Invest Dermatol

.

2024

;

144

(

9

):

2066

-

2077.e6

.

38.

De Bortoli

M

,

Ivars

M

,

Revencu

N

, et al.

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

.

Am J Med Genet A

.

2024

;

194

(

6

):

e63551

.

39.

Revencu

N

,

Boon

LM

,

Mendola

A

, et al.

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

.

Hum Mutat

.

2013

;

34

(

12

):

1632

-

1641

.

40.

Amyere

M

,

Revencu

N

,

Helaers

R

, et al.

Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling

.

Circulation

.

2017

;

136

(

11

):

1037

-

1048

.

41.

Mologousis

MA

,

Ostertag-Hill

CA

,

Haimes

H

,

Fishman

SJ

,

Mulliken

JB

,

Liang

MG

.

Spectrum of lymphatic anomalies in patients with RASA1-related CM-AVM

.

Pediatr Dermatol

.

2023

;

40

(

6

):

1028

-

1034

.

42.

Couto

JA

,

Huang

AY

,

Konczyk

DJ

, et al.

Somatic MAP2K1 Mutations are associated with extracranial arteriovenous malformation

.

Am J Hum Genet

.

2017

;

100

(

3

):

546

-

554

.

43.

Nikolaev

SI

,

Vetiska

S

,

Bonilla

X

, et al.

Somatic activating KRAS mutations in arteriovenous malformations of the brain

.

N Engl J Med

.

2018

;

378

(

3

):

250

-

261

.

44.

Paolacci

S

,

Mattassi

RE

,

Marceddu

G

, et al.

Somatic variant analysis identifies targets for tailored therapies in patients with vascular malformations

.

J Clin Med

.

2020

;

9

(

11

):

3387

.

45.

Nguyen

HL

,

Boon

LM

,

Vikkula

M.

Trametinib as a promising therapeutic option in alleviating vascular defects in an endothelial KRAS-induced mouse model

.

Hum Mol Genet

.

2023

;

32

(

2

):

276

-

289

.

46.

Boon LM

DV

,

Coulie

J

,

Marot

L

, et al.

Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformation

.

Nature Cardiovasc Res

.

2022

;

1

:

562

-

567

.

47.

Ola

R

,

Dubrac

A

,

Han

J

, et al.

PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia

.

Nat Commun

.

2016

;

7

:

13650

.

48.

Balachandar

S

,

Graves

TJ

,

Shimonty

A

, et al.

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

.

Am J Med Genet A

.

2022

;

188

(

3

):

959

-

964

.

49.

Yehia

L

,

Eng

C.

PTEN hamartoma tumor syndrome

. In:

Adam

MP

,

Mirzaa

GM

,

Pagon

RA

, et al, eds.

GeneReviews

.

University of Washington

;

1993

.

50.

Dompmartin

A

,

Acher

A

,

Thibon

P

, et al.

Association of localized intravascular coagulopathy with venous malformations

.

Arch Dermatol

.

2008

;

144

(

7

):

873

-

877

.

51.

Revencu

N

,

Eijkelenboom

A

,

Bracquemart

C

, et al.

Assessment of gene- disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

.

Orphanet J Rare Dis

.

2024

;

19

(

1

):

213

.