Publication Name	World Journal of Clinical Cases
Manuscript ID	68072
Country	China

Received	2021-05-11 09:01
Peer-Review Started	2021-05-11 09:02
To Make the First Decision
Return for Revision	2021-10-16 21:12
Revised	2021-10-29 16:52
Second Decision	2022-03-18 06:08
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2022-03-26 22:06
Articles in Press	2022-03-26 22:06
Publication Fee Transferred
Edit the Manuscript by Language Editor	2021-12-23 18:05
Typeset the Manuscript	2022-04-08 09:16
Publish the Manuscript Online	2022-05-24 14:32

ISSN	2307-8960 (online)
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Category	Pathology
Manuscript Type	Case Report
Article Title	Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report
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	Author(s) ORCID Number Wei Yuan http://orcid.org/0000-0001-6255-4605 Wen Huang http://orcid.org/0000-0001-9109-6009 Lei Ren http://orcid.org/0000-0003-0982-3874 Chen Xu http://orcid.org/0000-0002-0863-6199 Li-Juan Luan http://orcid.org/0000-0002-8275-6404 Jie Huang http://orcid.org/0000-0001-5366-0852 An-Wei Xue http://orcid.org/0000-0003-3910-8935 Yong Fang http://orcid.org/0000-0002-4374-1509 Xiao-Dong Gao http://orcid.org/0000-0003-0362-8699 Kun-Tang Shen http://orcid.org/0000-0001-5784-6558 Jing-Huan Lv http://orcid.org/0000-0002-4233-7926 Ying-Yong Hou http://orcid.org/0000-0002-6282-9717
Funding Agency and Grant Number	Funding Agency Grant Number Shanghai Municipal Key 306 Clinical Specialty shslczdzk01302
Corresponding Author	Ying-Yong Hou, PhD, N/A, 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

Full Article (PDF)	WJCC-10-4878.pdf
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Manuscript File	68072_Auto_Edited-YXX-Kerr C.docx
Answering Reviewers	68072-Answering reviewers.pdf
Audio Core Tip	68072-Audio core tip.m4a
Conflict-of-Interest Disclosure Form	68072-Conflict-of-interest statement.pdf
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Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s)	68072-Grant application form(s).pdf
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Non-Native Speakers of English Editing Certificate	68072-Language certificate.pdf
Peer-review Report	68072-Peer-review(s).pdf
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Scientific Editor Work List	68072-Scientific editor work list.pdf
CrossCheck Report	68072-CrossCheck report.pdf