PMC5865551_01
Polymerase chain reaction-direct sequencing.. Notes: Chromatogram showing the germline mutation in the case included in the present study. Arrow indicates the missense variant c.C952T>C (p.C318R) in exon 5 of GATA3.
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The results indicated that she carried the missense variant, c.C952T>C (p.C318R), in exon 5 of GATA3 (Figure 1).
Pedigree.. Notes: Arrow indicates the proband. Males are represented by squares and females by circles. The filled circle indicates the affected female. A diagonal line through a square or circle indicates a deceased person.
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According to the standards and guidelines for the interpretation of sequence variants, this variant is classified as "likely pathogenic." Intriguingly, she was born to healthy parents and had no family history of a similar disorder (Figure 2).
Images of bronchoscopic specimens stained for H&E and the indicated markers.. Notes: Dysplasia with a coarse chromatin was observed in fibrous tissue. The tumor was positive for CK 5/6 and p63, weakly positive for TTF-1, and negative for Napsin. Magnification is x400.. Abbreviations: CK 5/6, cytokerTIN 5/6; H&E, hematoxylin and eosin; TTF-1, thyroid transcription factor-1.
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Consequently, she was histologically diagnosed with lung squamous cell carcinoma (Figure 3).
Age of nonsmoking patients diagnosed with lung squamous cell carcinoma at Kobe University Hospital from 2011 to 2017.. Note: Of 263 patients diagnosed with lung squamous cell carcinoma at Kobe University Hospital, 16 were nonsmokers.
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Intriguingly, this is the only case of a young nonsmoking woman developing lung squamous cell carcinoma that has presented at Kobe University Hospital in the period 2011-2017 (Figure 4).
Chest X-ray.. Note: Left pleural effusion, pleural thickening, and scoliosis were detected.. Abbreviations: R, right; P-A, posteroanterior.
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Chest X-ray revealed left pleural effusion, pleural thickening, and scoliosis (Figure 5).