Literature DB >> 32799314

Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.

Christopher L Sudduth1, Anna M McGuire2, Patrick J Smits1, Dennis J Konczyk1, Alyaa Al-Ibraheemi3, Steven J Fishman2, Arin K Greene1.   

Abstract

Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1. We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital hemangioma. Lesions were cutaneous, reddish-purple with telangiectasias, present at birth, and had defined borders. Histopathology indicated AVM and both lesions contained somatic KRAS mutations. A rare AVM phenotype exists that shares clinical features with congenital hemangioma.
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  KRAS; arteriovenous malformation; congenital; hemangioma

Year:  2020        PMID： 32799314      PMCID： PMC7955771          DOI： 10.1111/cge.13833

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.

Authors:  Javier A Couto; August Y Huang; Dennis J Konczyk; Jeremy A Goss; Steven J Fishman; John B Mulliken; Matthew L Warman; Arin K Greene
Journal:  Am J Hum Genet       Date:  2017-02-09       Impact factor: 11.025

2.  Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.

Authors:  Ugur M Ayturk; Javier A Couto; Steven Hann; John B Mulliken; Kaitlin L Williams; August Yue Huang; Steven J Fishman; Theonia K Boyd; Harry P W Kozakewich; Joyce Bischoff; Arin K Greene; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2016-04-07       Impact factor: 11.025

3.  Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.

Authors:  Jeremy A Goss; Dennis J Konczyk; Patrick J Smits; Harry P W Kozakewich; Ahmad I Alomari; Alyaa Al-Ibraheemi; Amir H Taghinia; Belinda H Dickie; Denise M Adams; Steven J Fishman; John B Mulliken; Matthew L Warman; Arin K Greene
Journal:  Angiogenesis       Date:  2019-09-05       Impact factor: 9.596

4.  Arteriovenous malformation associated with a HRAS mutation.

Authors:  Dennis J Konczyk; Jeremy A Goss; Patrick J Smits; August Y Huang; Alyaa Al-Ibraheemi; Christopher L Sudduth; Matthew L Warman; Arin K Greene
Journal:  Hum Genet       Date:  2019-10-21       Impact factor: 4.132

5.  Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Authors:  Lara Al-Olabi; Satyamaanasa Polubothu; Katherine Dowsett; Katrina A Andrews; Paulina Stadnik; Agnel P Joseph; Rachel Knox; Alan Pittman; Graeme Clark; William Baird; Neil Bulstrode; Mary Glover; Kristiana Gordon; Darren Hargrave; Susan M Huson; Thomas S Jacques; Gregory James; Hannah Kondolf; Loshan Kangesu; Kim M Keppler-Noreuil; Amjad Khan; Marjorie J Lindhurst; Mark Lipson; Sahar Mansour; Justine O'Hara; Caroline Mahon; Anda Mosica; Celia Moss; Aditi Murthy; Juling Ong; Victoria E Parker; Jean-Baptiste Rivière; Julie C Sapp; Neil J Sebire; Rahul Shah; Branavan Sivakumar; Anna Thomas; Alex Virasami; Regula Waelchli; Zhiqiang Zeng; Leslie G Biesecker; Alex Barnacle; Maya Topf; Robert K Semple; E Elizabeth Patton; Veronica A Kinsler
Journal:  J Clin Invest       Date:  2018-03-12       Impact factor: 14.808

6.  Somatic mutations in intracranial arteriovenous malformations.

Authors:  Jeremy A Goss; August Y Huang; Edward Smith; Dennis J Konczyk; Patrick J Smits; Christopher L Sudduth; Christopher Stapleton; Aman Patel; Sanda Alexandrescu; Matthew L Warman; Arin K Greene
Journal:  PLoS One       Date:  2019-12-31       Impact factor: 3.240
  6 in total
  5 in total

1.  Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice.

Authors:  Patrick J Smits; Christopher L Sudduth; Dennis J Konczyk; Yu Sheng Cheng; Matthew P Vivero; Harry P W Kozakewich; Matthew L Warman; Arin K Greene
Journal:  Angiogenesis       Date:  2022-08-16       Impact factor: 10.658

2.  Vascular Malformations: Current Progress Toward Drug Therapy.

Authors:  Arin K Greene; Christopher L Sudduth
Journal:  J Craniofac Surg       Date:  2021-05-01       Impact factor: 1.046

3.  VEGF Pathway Gene Expression Profile of Proliferating versus Involuting Infantile Hemangiomas: Preliminary Evidence and Review of the Literature.

Authors:  Rodica Elena Heredea; Eugen Melnic; Laura Elena Cirligeriu; Patricia Lorena Berzava; Maria Corina Stănciulescu; Călin Marius Popoiu; Anca Maria Cimpean
Journal:  Children (Basel)       Date:  2022-06-17

4.  Novel classification for simple peripheral arteriovenous malformations based on anatomic localization: Prevalence data from the tertiary referral center in China.

Authors:  Yuchen Shen; Zhenfeng Wang; Xitao Yang; Lianzhou Zheng; Mingzhe Wen; Yifeng Han; Xiao Li; Liming Zhang; Jingbing Wang; Jianxiong You; Chunyu Jiang; Lixin Su; Xindong Fan; Deming Wang
Journal:  Front Cardiovasc Med       Date:  2022-07-22

5.  Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.

Authors:  Whitney Eng; Christopher L Sudduth; Dennis J Konczyk; Patrick J Smits; Amir H Taghinia; Steven J Fishman; Ahmad Alomari; Denise M Adams; Arin K Greene
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09
  5 in total

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