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

Abstract

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

Keywords

• Lung cancer
• GATA3
• missense variant
• Hypoparathyroidism
• Sensorineural deafness
• Renal dysplasia