Objective: To study interpectoral nodes metastasis rate in breast cancer and its clinical significance. Methods: 171 female patients undergone surgery for breast cancer were reviewed, of whom the interpectoral nodes were subjected to pathological examination. Results: Interpectoral nodes were identified in 25.7% of the 171 female patients, and the interpectoral nodes metastasis rate was 9.9%. The patients with interpectoral nodes metastasis had larger tumor size, later TNM classification, higher axillary apical nodes metastasis rate and lower ER positive rate. Conclusion: Dissection of interpectoral nodes should be regard as routine clinical practice in modified radical mastectomy, and interpectoral nodes should be subjected to pathological examination.
Background
X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Although most of the affected men had mild symptoms, some had more severe symptoms, and had a poor prognosis.
Case presentation
We present the case of a male fetus diagnosed with CDPX1. Ultrasound clearly showed that hypoplasia of the midface, flatness of face, low flatness of the nose, collapse of the tip of the nose, accompanied by severe spinal stenosis and secondary ossification center of the femoral metaphysis appeared in advance. Chromosome analysis of the amniotic fluid cells revealed 46, XY. Whole exome sequencing showed that there was a novel missense mutation of c.640G > A in ARSE gene on X chromosome. Three protein function prediction software FATHMM、Polyphen-2、PROVEAN have shown that the novel missense mutation of c.640G > A in this study was pathogenic.
Conclusions
Our case is a novel mutation and presents a typical characterization of the disease, which can expand the spectrum of mutations of the ARSE gene and is helpful for prenatal ultrasound diagnosis of this disease.
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