case_images: PMC10578369_01
case_images: PMC10578369_02
case_images: Thyroid ultrasound in transverse plane (A) and sagittal plane (B) showing an 8 mm x 11 mm x 14 mm solid-appearing lower pole nodule of the left lobe without suspicious malignant features suggestive of a possible parathyroid adenoma.
case_images: luad006f1.jpg
case_images: PMC10578369_02_luad006f1.jpg
case_images: luad006-F1
case_images: On thyroid ultrasound, he has a 8 mm x 11 mm x 14 mm solid-appearing lower pole nodule of the left lobe without suspicious malignant features, which is suggestive of a possible parathyroid adenoma (Fig. 1).
case_images: PMC10578369_03
case_images: Schematic representation of the MAX mutation (c.183_195del) identified in the patient and the resulting abnormal MAX protein (p.Gln62Lysfs*104). The mutation is characterized by a deletion of the nucleotides 183 to 195, shifting the reading frame and disrupting the last 99 amino acids of the MAX protein and extending the protein by 4 additional amino acid residues.
case_images: luad006f2.jpg
case_images: PMC10578369_03_luad006f2.jpg
case_images: luad006-F2
case_images: Surprisingly, genetic panel testing, which he recently agreed to, revealed a novel heterozygous pathogenic deletional frameshift mutation in exon 4 of the MAX gene (c.183_195del; p.Gln62Lysfs*104; Fig. 2).