Objective: To explore the value of dynamic contrast-enhanced MRI (DCE-MRI) based radiomics model in predicting the pathological complete response (pCR) to neoadjuvant chemotherapy (NAC) of breast cancer. Methods: In this retrospective study, 91 patients who had received NAC and had pathological response results were collected in Meizhou people′s hospital from January 2016 to August 2018. A primary cohort consisted of 63 patients and an independent validation cohort consisted of 28 patients. The patients were divided into pCR group of 23 cases and non-pathological complete response (Non-pCR) group of 68 cases. All the patients underwent dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) before NAC. A list of radiomics features were extracted using the A.K software and the corresponding radiomics signature was constructed. Logistic regression was used to develop the prediction model. The predictive ability of the model was tested by using the area under the curve (AUC) of ROC analysis. Results: The discrimination performance of radiomics signature yielded a AUC of 0.750 in the primary dataset and a AUC of 0.789 in the validation dataset. The model that incorporated estrogen receptor (ER), progesterone receptor (PR) and radiomics features was developed, and had an AUC of 0.859 in the primary dataset and an AUC of 0.905 in the validation dataset. Conclusion The radiomics predictive model, which integrated with the DCE-MRI based radiomics signature, ER and PR, can be used as a promising and applicable adjunct approach for predicting the pCR to NAC of breast cancer.

OBJECTIVE: To identify pathogenic variants in 5 sporadic patients and two Chinese pedigrees affected with 17-hydroxylase deficiency (17-OHD). METHODS: Peripheral blood samples were collected with informed consent. Variants of CYP17A1 gene were screened by PCR and Sanger sequencing. Suspected mutations were validated in other members of the pedigrees. RESULTS: Gene sequencing has identified a homozygous c.985_987delTACinsAA (Y329Kfs) mutation in exon 6 of the CYP17A1 gene in 4 patients and the sister of case 3. Case 1 was found to harbor compound heterozygous mutations c.1459_1467del9 (p.D487_F489del) and c.1244-3C>A. The parents and brother of cases 2 and 5 were heterozygous carriers of a c.985_987delTACinsAA(Y329Kfs) mutation. CONCLUSION Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c.985_987delTACinsAA(Y329Kfs) is the most common. The c.1244-3C>A is a novel mutation. Above results have facilitated genetic counseling for the affected families.
Adrenal Hyperplasia, Congenital ; genetics ; Exons ; Female ; Humans ; Male ; Mutation ; Pedigree ; Steroid 17-alpha-Hydroxylase ; genetics

Objective: To identify pathogenic variants in 5 sporadic patients and two Chinese pedigrees affected with 17-hydroxylase deficiency (17-OHD). Methods: Peripheral blood samples were collected with informed consent. Variants of CYP17A1 gene were screened by PCR and Sanger sequencing. Suspected mutations were validated in other members of the pedigrees. Results: Gene sequencing has identified a homozygous c. 985_987delTACinsAA (Y329Kfs) mutation in exon 6 of the CYP17A1 gene in 4 patients and the sister of case 3. Case 1 was found to harbor compound heterozygous mutations c. 1459_1467del9 (p.D487_F489del) and c. 1244-3C>A. The parents and brother of cases 2 and 5 were heterozygous carriers of a c. 985_987delTACinsAA(Y329Kfs) mutation. Conclusion Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c. 985_987delTACinsAA(Y329Kfs) is the most common. The c. 1244-3C>A is a novel mutation. Above results have facilitated genetic counseling for the affected families.