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Review
. 2024 Dec 6;2024(1):700-708.
doi: 10.1182/hematology.2024000598.

Molecular landscape and classification of vascular anomalies

Emmanuel Seront  1 , Angela Queisser  2 , Laurence M Boon  3 , Miikka Vikkula  2   4
Affiliations
Review

Molecular landscape and classification of vascular anomalies

Emmanuel Seront et al. Hematology Am Soc Hematol Educ Program. .

Abstract

Vascular malformations, which result from anomalies in angiogenesis, include capillary, lymphatic, venous, arteriovenous, and mixed malformations and affect specific vessel types. Historically, treatments such as sclerotherapy and surgery have shown limited efficacy in complicated cases. Most vascular malformations occur sporadically, but some can be inherited. They result from mutations similar to oncogenic alterations, activating pathways such as PI3K-AKT-mTOR or Ras-MAPK-ERK. Recognizing these parallels, we highlight the potential of targeted molecular inhibitors, repurposing anticancer drugs for the treatment of vascular malformations. This case-based review explores recent developments in precision medicine for slow-flow and fast-flow vascular malformation.

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Conflict of interest statement

Emmanuel Seront: no competing financial interests to declare.

Angela Queisser: no competing financial interests to declare.

Laurence M. Boon: no competing financial interests to declare.

Miikka Vikkula: no competing financial interests to declare.

Figures

None
Graphical abstract
Figure 1.
Figure 1.
Brief overview of vascular malformation classification. CLOVES, congenital lipomatous overgrowth with vascular anomalies epidermal nevi and scoliosis; CLVM, capillary-lymphatic-venous malformations; CVM, capillary-venous malformation; KTS, Klippel- Trenaunay syndrome; LVM, lymphatic-venous malformations.
Figure 2.
Figure 2.
Signaling pathways involved in vascular malformations. CLOVES ,  congenital lipomatous overgrowth with vascular anomalies epidermal nevi and scoliosis; KTS, Klippel-Trenaunay syndrome; VEGFR,  vascular endothelial growth factor receptor.
Figure 3.
Figure 3.
Clinical case. (A) Extensive bluish lesions on left lower limb; (B) magnetic resonance imaging showing extensive venous malformation in most of the muscles of the thigh (blue arrows); (C) magnetic resonance imaging showing involvement of the perineal area (blue arrows); (D) evolution of symptoms (bleeding and visual analogue score of the pain on sirolimus with rapid arrest of bleeding after sirolimus initiation and recurrence of symptoms after arrest of sirolimus. The reintroduction of sirolimus at a lower dose subsequently controlled the symptoms.
See this image and copyright information in PMC

References

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