case_images: PMC11246854_01
case_images: Shown the front view of patient (A(a)) Lateral view of patient (A(b)), CT showing thoracic scoliosis and scoliosis (B), CT showing increased glands in the left breast (C), Breast MRI showing male breast development (D), Breast MRI showing edema in the left breast, skin and anterior chest wall (E).
case_images: fmed-11-1364089-g001.jpg
case_images: PMC11246854_01_fmed-11-1364089-g001.jpg
case_images: fig1
case_images: The palpable tough tissue in the left breast measured approximately 9.0 cm x 6.0 cm x 5.0 cm (Figures 1Aa,b). Following admission, a chest CT examination was conducted, revealing thoracic scoliosis (Figure 1B) and increased glandular tissue in the left breast (Figure 1C). MRI results of both breasts indicated the presence of gynecomastia (Figure 1D), with edema observed in the left breast, as well as the skin and front chest wall (Figure 1E).
case_images: The preoperative appearance is shown in (A), the intraoperative minimally invasive breast endoscopic resection of the tumor is shown in (B), the Gross specimen of the tumor is shown in (C), the postoperative appearance 2 weeks is shown in (D).
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case_images: PMC11246854_01_fmed-11-1364089-g002.jpg
case_images: fig2
case_images: After consultation with the patient, we opted to perform minimally invasive breast endoscopy surgery to remove the local tissue using a combination of endoscopy mastectomy and liposuction (Liu and Shang's 2 hole 7-step method) (Figure 2).
case_images: Shown the proliferative phase with ductal epithelial proliferation, periductal edema and vascularized stroma (Hematoxylin Eosin, 200X) (A), focal spindle cell areas reminiscent of neurofibroma (Hematoxylin Eosin, 200X) (B), Immunostaining for CD34 (200X) (C), Immunostaining for NF-1(200X) (D), Immunostaining forS-100(200X) (E). Immunostaining for Vim (200X) (F).
case_images: fmed-11-1364089-g003.jpg
case_images: PMC11246854_01_fmed-11-1364089-g003.jpg
case_images: fig3
case_images: The postoperative pathology report indicated the presence of gynecomastia and neurofibroma (Figures 3A,B). Immunohistochemistry results (Table 2) showed S-100(+), NF(-), Vim(+), CD34(+), which led to the patient being diagnosed with NF-1 neurofibromatosis (Figures 3C-F).
case_images: The results of the next generation sequencing of the NF1 gene is shown in (A), a is gene sequence of patient (heterozygosis); b is the patient's mother's gene sequence (heterozygosis); c is patient's sister's gene sequence (heterozygosis). The NF1 affects members in each generation of a family is shown in (B).
case_images: fmed-11-1364089-g004.jpg
case_images: PMC11246854_01_fmed-11-1364089-g004.jpg
case_images: fig4
case_images: This mutation involves the deletion of base 1,431 in the cDNA, resulting in a change from phenylalanine to leucine at codon position 477 and a frameshift leading to a premature stop codon (Figure 4).