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Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report

Authors Kojima M, Nagano T, Nakata K, Hara S, Katsurada N, Yamamoto M, Tachihara M, Kamiryo H, Kobayashi K, Usui T, Nishimura Y

Received 3 January 2018

Accepted for publication 20 February 2018

Published 20 March 2018 Volume 2018:11 Pages 1595—1599


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3

Editor who approved publication: Dr Yao Dai

Mariko Kojima,1 Tatsuya Nagano,1 Kyosuke Nakata,1 Shigeo Hara,2 Naoko Katsurada,1 Masatsugu Yamamoto,1 Motoko Tachihara,1 Hiroshi Kamiryo,1 Kazuyuki Kobayashi,1 Takeshi Usui,3 Yoshihiro Nishimura1

1Division of Respiratory Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan; 2Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan; 3Department of Medical Genetics, Shizuoka General Hospital, Shizuoka City, Shizuoka, Japan

Abstract: Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant condition caused by mutations of the gene encoding the dual zinc-finger transcription factor, GATA3. A previous study identified some patients with GATA3 gene variants and breast cancer, suggesting that GATA3 variants may contribute to tumorigenesis in estrogen receptor 1-positive breast tumors; however, these patients did not have HDR syndrome. A 32-year-old nonsmoking Japanese woman was histologically diagnosed with lung squamous cell carcinoma associated with HDR syndrome and a c.C952T>C (p.C318R) germline mutation in GATA3. This is the first report describing cancer in a patient with HDR syndrome. Our data indicates that GATA3 mutations may be a potential therapeutic target for lung cancer.

Keywords: lung cancer, GATA3, missense variant, hypoparathyroidism, sensorineural deafness, renal dysplasia

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