ISSVA Classification of Vascular Anomalies and Molecular Biology

被引：140

作者：

Kunimoto, Kayo ^{[1
]}

Yamamoto, Yuki ^{[1
]}

Jinnin, Masatoshi ^{[1
]}

机构：

[1] Wakayama Med Univ, Dept Dermatol, Grad Sch Med, 811-1 Kimiidera, Wakayama 6410012, Japan

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2022年 / 23卷 / 04期

基金：

日本学术振兴会;

关键词：

venous malformation; lymphatic malformation; infantile hemangioma; RECEPTOR TYROSINE KINASE; INFANTILE HEMANGIOMA; SOMATIC MUTATION; MAP2K1; MUTATIONS; STEM-CELLS; EXPRESSION; VEGF;

D O I：

10.3390/ijms23042358

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Vascular anomalies include various diseases, which are classified into two types according to the International Society for the Study of Vascular Anomalies (ISSVA) classification: vascular tumors with proliferative changes of endothelial cells, and vascular malformations primarily consisting of structural vascular abnormalities. The most recent ISSVA classifications, published in 2018, detail the causative genes involved in many lesions. Here, we summarize the latest findings on genetic abnormalities, with the presentation of the molecular pathology of vascular anomalies.

引用

页数：13

共 46 条

[1] Asadi S, 2020, J CELL SIGNAL DAMAGE, V1, P15
[2] A somatic missense mutation in GNAQ causes capillary malformation
Bichsel, Colette
Bischoff, Joyce
[J]. CURRENT OPINION IN HEMATOLOGY, 2019, 26 (03) : 179 - 184
[3] PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations
Blesinger, Hannah
Kaulfuss, Silke
Aung, Thiha
Schwoch, Sonja
Prantl, Lukas
Roessler, Jochen
Wilting, Joerg
Becker, Juergen
[J]. PLOS ONE, 2018, 13 (07):
[4] Clonality and altered behavior of endothelial cells from hemangiomas
Boye, E
Yu, Y
Paranya, G
Mulliken, JB
Olsen, BR
Bischoff, J
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2001, 107 (06) : 745 - 752
[5] Four common glomulin mutations cause two-thirds of glomuvenous malformations ("familial glomangiomas"):: evidence for a founder effect -: art. no. e13
Brouillard, P
Ghassibé, M
Penington, A
Boon, LM
Dompmartin, A
Temple, IK
Cordisco, M
Adams, D
Piette, F
Harper, JI
Syed, S
Boralevi, F
Taïeb, A
Danda, S
Baselga, E
Enjolras, O
Mulliken, JB
Vikkula, M
[J]. JOURNAL OF MEDICAL GENETICS, 2005, 42 (02) : e13
[6] Somatic PIK3CA mutations as a driver of sporadic venous malformations
Castel, Pau
Carmona, F. Javier
Grego-Bessa, Joaquim
Berger, Michael F.
Viale, Agnes
Anderson, Kathryn V.
Bague, Silvia
Scaltriti, Maurizio
Antonescu, Cristina R.
Baselga, Eulalia
Baselga, Jose
[J]. SCIENCE TRANSLATIONAL MEDICINE, 2016, 8 (332)
[7] PIK3CA mutations in vascular malformations
Castillo, Sandra D.
Baselga, Eulalia
Graupera, Mariona
[J]. CURRENT OPINION IN HEMATOLOGY, 2019, 26 (03) : 170 - 178
[8] Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans
Castillo, Sandra D.
Tzouanacou, Elena
Zaw-Thin, May
Berenjeno, Inma M.
Parker, Victoria E. R.
Chivite, Inigo
Mila-Guasch, Maria
Pearce, Wayne
Solomon, Isabelle
Angulo-Urarte, Ana
Figueiredo, Ana M.
Dewhurst, Robert E.
Knox, Rachel G.
Clark, Graeme R.
Scudamore, Cheryl L.
Badar, Adam
Kalber, Tammy L.
Foster, Julie
Stuckey, Daniel J.
David, Anna L.
Phillips, Wayne A.
Lythgoe, Mark F.
Wilson, Valerie
Semple, Robert K.
Sebire, Neil J.
Kinsler, Veronica A.
Graupera, Mariona
Vanhaesebroeck, Bart
[J]. SCIENCE TRANSLATIONAL MEDICINE, 2016, 8 (332)
[9] Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation
Couto, Javier A.
Huang, August Y.
Konczyk, Dennis J.
Goss, Jeremy A.
Fishman, Steven J.
Mulliken, John B.
Warman, Matthew L.
Greenel, Arin K.
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (03) : 546 - 554
[10] Kaposiform Hemangioendothelioma: Atypical Features and Risks of Kasabach-Merritt Phenomenon in 107 Referrals
Croteau, Stacy E.
Liang, Marilyn G.
Kozakewich, Harry P.
Alomari, Ahmad I.
Fishman, Steven J.
Mulliken, John B.
Trenor, Cameron C., III
[J]. JOURNAL OF PEDIATRICS, 2013, 162 (01) : 142 - 147

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