Editorial: Advance in vascular anomalies of head and neck region: from bench to bedside

Editorial on the Research Topic
Advance in vascular anomalies of head and neck region: from bench to bedside

We are pleased to present our Research Topic, which includes a total of 10 articles, discussing the state-of-art on vascular anomalies' research.

Vascular anomalies are abnormalities or disorders of the vascular or lymphatic system, with a relatively higher prevalence in the head and neck region. According to the International Society for the Study of Vascular Anomalies (ISSVA), vascular anomalies are classified as either vascular tumors or malformations (1). Vascular tumors can be benign, locally aggressive, or malignant. Hemangioma is considered the most common type of benign vascular tumor, which is divided into infantile and congenital hemangioma; given the onset time, both are endowed with unique natural history. Other benign vascular tumors include tufted angioma, pyogenic granuloma, spindle-cell hemangioma, and intravenous lipomas, etc. When it comes to locally aggressive tumors, kaposiform hemangioendothelioma is prone to cause thrombocytopenia among affected infants and children, known as the Kasabach-Merritt phenomenon. Malignant tumors include angiosarcoma, epithelioid hemangioendothelioma, etc.

Regarding vascular tumors, Fernández-Alvarez et al. contributed valuable perspectives on the intravenous lipomas of the head and neck through an up-to-date literature review and summary.

Different from vascular tumors, vascular malformations mostly occur congenitally. In the light of the hemodynamics, vascular malformations can be sorted into low-flow (capillary malformation [CM], venous malformation [VM], and lymphatic malformation [LM]) and high-flow (arteriovenous fistula [AVF] and arteriovenous malformation [AVM]). According to ISSVA, vascular malformations are divided into the following types: simple, combined, vascular malformations of major named vessels, and vascular malformations associated with other anomalies.

For low-flow vascular malformations, Azmoun et al., Zhang et al., and Sun et al. have introduced novel sclerosants on VMs; Yuan and Wang contributed their experiences on the electrochemical therapy combined with injection of pingyangmycin treating VMs. Yang et al. discussed the efficacy of surgical resection, sclerotherapy, and the combination of the two in treating LMs.

For high-flow vascular malformations, Han et al. reported the efficacy and safety of embolization among scalp AVFs. Shen et al. demonstrated the promising prognosis of peripheral AVFs after coil-assisted ethanol embolization. Furthermore, Su et al. shed light on the presentation and countermeasures related to the cardiopulmonary collapse induced by ethanol embolization.

Thanks to the significant development of molecular genetics, our understanding of vascular malformations has gradually shifted from a macroscopic level to a microscopic one. Nowadays, gene mutations are the broadly acceptable etiology of vascular malformations and related syndromes, including somatic or germline types. For example, cutaneous or mucosal CM is considered the somatic mutation of GNAQ/GNA11; (2) common VM is caused by somatic mutation of TEK, whereas sporadic AVM results from MAP2K1 somatic mutation (3, 4). Some genetic diseases, such as hereditary hemorrhagic telangiectasia or capillary malformation-arteriovenous malformation, happen due to the germline mutation of (ENG, ACVRL1, and SMAD4) and (RASA1 and EPHB4), respectively (5, 6). Here, Solomon and Comi summarized the latest progress of Sturge-Weber syndrome, most commonly associated with a R183Q somatic mosaic mutation in the gene GNAQ, from a translational perspective.

Given the complex category and comprehensive system of vascular anomalies, scientists, and clinicians are still facing tremendous challenges in basic, clinical, and translational research. Nevertheless, the knowledge base related to vascular anomalies continues to accrue and further studies are needed to allow for the treatment optimization of these challenging conditions.

Author contributions

DW: Writing – original draft, Writing – review & editing. YS: Writing – original draft, Writing – review & editing. SX: Writing – original draft, Writing – review & editing. YC: Writing – original draft, Writing – review & editing. LS: Writing – original draft, Writing – review & editing. WY: Writing – original draft, Writing – review & editing. XF: Writing – original draft, Writing – review & editing.

Conflict of interest

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Publisher's note

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.

References

1. ISSVA. ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies. (2018). Available at: issva.org/classification (accessed May, 2018).

Google Scholar

2. Couto JA, Huang L, Vivero MP, Kamitaki N, Maclellan RA, Mulliken JB, et al. Endothelial cells from capillary malformations are enriched for somatic GNAQ mutations. Plast Reconstr Surg. (2016) 137:77e−82e. doi: 10.1097/PRS.0000000000001868

PubMed Abstract | Crossref Full Text | Google Scholar

3. Vikkula M, Boon LM, Carraway KL 3rd, Calvert JT, Diamonti AJ, Goumnerov B, et al. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell. (1996) 87:1181–90. doi: 10.1016/S0092-8674(00)81814-0

PubMed Abstract | Crossref Full Text | Google Scholar

4. Goss JA, Konczyk DJ, Smits PJ, Kozakewich HPW, Alomari AI, Al-Ibraheemi A, et al. Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations. Angiogenesis. (2019) 22:547–52. doi: 10.1007/s10456-019-09678-w

PubMed Abstract | Crossref Full Text | Google Scholar

5. Viteri-Noel A, Gonzalez-Garcia A, Patier JL, Fabregate M, Bara-Ledesma N, Lopez-Rodriguez M, et al. Hereditary hemorrhagic telangiectasia: genetics, pathophysiology, diagnosis, and management. J Clin Med. (2022) 11:175245. doi: 10.3390/jcm11175245

PubMed Abstract | Crossref Full Text | Google Scholar

6. Chen D, Van der Ent MA, Lartey NL, King PD. EPHB4-RASA1-mediated negative regulation of Ras-MAPK signaling in the vasculature: implications for the treatment of EPHB4- and RASA1-related vascular anomalies in humans. Pharmaceuticals. (2023) 16:20165. doi: 10.3390/ph16020165

PubMed Abstract | Crossref Full Text | Google Scholar