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Articles Published Processes
5/24/2022 2:32:32 PM | Browse: 148 | Download: 327
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Received |
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2021-05-11 09:01 |
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Peer-Review Started |
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2021-05-11 09:02 |
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To Make the First Decision |
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Return for Revision |
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2021-10-16 21:12 |
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Revised |
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2021-10-29 16:52 |
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Second Decision |
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2022-03-18 06:08 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2022-03-26 22:06 |
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Articles in Press |
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2022-03-26 22:06 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-12-23 18:05 |
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Typeset the Manuscript |
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2022-04-08 09:16 |
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Publish the Manuscript Online |
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2022-05-24 14:32 |
ISSN |
2307-8960 (online) |
Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/ |
Copyright |
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. |
Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
Website |
http://www.wjgnet.com |
Category |
Pathology |
Manuscript Type |
Case Report |
Article Title |
Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Wei Yuan, Wen Huang, Lei Ren, Chen Xu, Li-Juan Luan, Jie Huang, An-Wei Xue, Yong Fang, Xiao-Dong Gao, Kun-Tang Shen, Jing-Huan Lv and Ying-Yong Hou |
ORCID |
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Funding Agency and Grant Number |
Funding Agency |
Grant Number |
Shanghai Municipal Key 306 Clinical Specialty |
shslczdzk01302 |
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Corresponding Author |
Ying-Yong Hou, PhD, N/A, Department of Pathology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Xuhui District, Shanghai 200032, China. 980455691@qq.com |
Key Words |
Familial gastrointestinal stromal tumor; Germline KIT mutation; Cutaneous hyperpigmentation; Imatinib therapy; Case report |
Core Tip |
Familial gastrointestinal stromal tumors (GISTs) with a germline KIT oncogene mutation are always accompanied by symptoms, such as cutaneous hyperpigmentation, dysphagia and mastocytosis. We present a novel KIT germline mutation (p.V560G) in a 25-year-old Chinese woman with familial GISTs. The same mutation was detected in the tumor and saliva samples of her father. They both had similar cutaneous hyperpigmentation on their face, body and limbs. Imatinib therapy resulted in a long-term response and generalized hypopigmentation. This case highlights that clinical manifestations, family history, pathological examination and molecular determination should be combined for correct diagnosis. This novel KIT germline mutation may be of therapeutic significance. |
Publish Date |
2022-05-24 14:32 |
Citation |
Yuan W, Huang W, Ren L, Xu C, Luan LJ, Huang J, Xue AW, Fang Y, Gao XD, Shen KT, Lv JH, Hou YY. Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report. World J Clin Cases 2022; 10(15): 4878-4885 |
URL |
https://www.wjgnet.com/2307-8960/full/v10/i15/4878.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v10.i15.4878 |
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