Relationship among mammographic findings with histopathologic type of breast cancer and human epidermal growth factor receptor 2 (HER2) in young women.

INTRODUCTION: Radiological measures to diagnose breast cancer, including mammographic and ultrasound assessments in young women, are associated with restrictions affecting the use of this tool. No adequate information is available on mammography view in young people with breast cancer and its relationship with pathologic type and epidermal growth factor receptor 2 (HER2) as a prognostic marker, especially in the Iranian race. This study was conducted to examine the relationship between mammographic findings of young women with breast cancer with diagnosed histopathologic type and HER2 marker status. METHODS: This retrospective cross-sectional study was carried out on women with breast cancer referred to Omid Hospital in Mashhad, Iran. Inclusion criteria were age less than 45 years and definitive diagnosis of breast cancer documented in the patient record. Information on mammographic findings such as mass, asymmetry, microcalcification, tissue distortion, nipple retraction, and skin thickening was collected from patient medical records. In addition, the type of pathology diagnosed based on biopsy samples and HER2 examination results were collected. The chi-square test and SPSS software were used to analyze the relationship among qualitative variables. RESULTS: This study was performed on 153 patients with a mean age of 39.3±2.5 years (minimum 20 years and maximum 45 years). The mammographic finding was reported normal in 41 patients (26.7%). The evidence of malignant mass was observed in 48 patients (31.3%). The microcalcification was found in 31 patients (20.3%). The retraction or thickening of breast tissue was seen in 39 patients (25.5%). The distortion of breast stroma was found in 41 patients (26.8%). The HER2 marker in 76 patients (49.7%) was positive in study subjects. There was no statistically significant association between mammographic findings and pathologic type. Among the mammographic findings, only the presence of microcalcification had significant association with HER2 results (p=0.008). CONCLUSION: It seems that a significant relationship could not be found between mammographic features in patients with breast cancer and type of pathology diagnosed. However, the presence of calcification in mammography is associated with positive HER2.

Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review.

Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transplant years ago without the true diagnosis of the disorder. Brain imaging revealed the classic "molar tooth sign" appearance, and clinical evaluation established the diagnosis for both of the siblings. Imaging should be done to evaluate the neuroradiological findings of Joubert syndrome. With a neonate with Joubert syndrome in a family, antenatal diagnosis by ultrasound is crucial for future siblings.