Literature DB >> 31707589

GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma.

Jau-Yu Liau1,2, Jia-Huei Tsai1,2, Jui Lan3, Chih-Chi Chen2, Ying-Hao Wang2, Jen-Chieh Lee4,5, Hsuan-Ying Huang6.   

Abstract

Anastomosing hemangioma (AH) is a distinct benign vascular tumor that may be histologically confused with an angiosarcoma. Recently, recurrent GNAQ and GNA14 mutations were identified in AH. GNA11, another paralogue of GNAQ and the one that shows the highest degree of homology to GNAQ, has not yet been found to be mutated in AH. In this study, we investigated the clinicopathological and molecular features of 26 AHs. By Sanger sequencing and MassARRAY analysis, mutually exclusive mutations in exon 5 of GNAQ, GNA11, and GNA14 were identified in 10, 5, and 5 tumors, respectively, of the 22 investigated tumors, with an overall mutation rate of 91%. No notable differences in the clinicopathological features were observed between GNAQ-, GNA11-, or GNA14-mutated tumors. Our results implicated GNA11 mutations, as well as previously known mutations of its paralogues GNAQ and GNA14, as essential drivers in the pathogenesis of AH.

Entities:  

Keywords:  Anastomosing hemangioma; GNA11; GNA14; GNAQ

Mesh:

Substances:

Year:  2019        PMID: 31707589     DOI: 10.1007/s00428-019-02673-y

Source DB:  PubMed          Journal:  Virchows Arch        ISSN: 0945-6317            Impact factor:   4.064


  13 in total

1.  Recurrent GNAQ mutations in anastomosing hemangiomas.

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Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

3.  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

4.  GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation.

Authors:  Young H Lim; Antonella Bacchiocchi; Jingyao Qiu; Robert Straub; Anna Bruckner; Lionel Bercovitch; Deepak Narayan; Jennifer McNiff; Christine Ko; Leslie Robinson-Bostom; Richard Antaya; Ruth Halaban; Keith A Choate
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

5.  Recurrent GNA14 mutations in anastomosing haemangiomas.

Authors:  Gregory R Bean; Nancy M Joseph; Andrew L Folpe; Andrew E Horvai; Sarah E Umetsu
Journal:  Histopathology       Date:  2018-05-21       Impact factor: 5.087

6.  Anastomosing hemangioma of the liver and gastrointestinal tract: an unusual variant histologically mimicking angiosarcoma.

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Journal:  Am J Surg Pathol       Date:  2013-11       Impact factor: 6.394

7.  Effects of anticonvulsants on cell growth and enzymatic and receptor binding activity in a neuroblastoma x glioma hybrid cell culture.

Authors:  P A Slesinger; H S Singer
Journal:  Epilepsia       Date:  1987 May-Jun       Impact factor: 5.864

8.  Anastomosing hemangioma of the genitourinary tract: a lesion mimicking angiosarcoma.

Authors:  Elizabeth Montgomery; Jonathan I Epstein
Journal:  Am J Surg Pathol       Date:  2009-09       Impact factor: 6.394

9.  Anastomosing Hemangiomas Arising in Unusual Locations: A Clinicopathologic Study of 17 Soft Tissue Cases Showing a Predilection for the Paraspinal Region.

Authors:  Ivy John; Andrew L Folpe
Journal:  Am J Surg Pathol       Date:  2016-08       Impact factor: 6.394

10.  Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.

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Journal:  Nat Rev Cancer       Date:  2022-10-19       Impact factor: 69.800

Review 2.  Imaging findings of retroperitoneal anastomosing hemangioma: a case report and literature review.

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Review 3.  The genetics of vascular tumours: an update.

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Review 4.  Cell Populations Expressing Stemness-Associated Markers in Vascular Anomalies.

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5.  Spermatic cord anastomosing hemangioma mimicking a malignant inguinal tumor: A case report and literature review.

Authors:  Zhan-Yi Zhang; Peng Hong; Shao-Hui Deng; Shi-Ying Tang; Zhuo Liu; Hui-Ying He; Lu-Lin Ma; Shu-Dong Zhang; Xiao-Jun Tian
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  5 in total

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