Study on clinical characteristics of PALB2 gene-related breast cancer / 肿瘤研究与临床

Objective:To explore the clinical characteristics of breast cancer patients with PALB2 gene mutation.Methods:Data of 2030 female patients with early-stage breast cancer admitted to the Cancer Hospital of Chinese Academy of Medical Sciences and Peking Union Medical College from July 2015 to July 2019 were retrospectively analyzed, and the patients were all from Genetic Investigation of Inherited & Familial Tumor Syndrome study cohort (GIFTS study, clinical trial registration number: ChiCTR1900024050). All these patients underwent the panel-based next-generation sequencing (NGS) on all the exons 50 cancer predisposition genes including BRCA1, BRCA2, PALB2, etc. The patients were divided into the PALB2 gene mutation group and the non-mutation carriers group according to the results of genetic testing. Furthermore, the clinicopathological characteristics were compared between the two groups, and their compliance of the National Comprehensive Cancer Network (NCCN) genetic testing criteria were also evaluated.Results:Among 2 030 patients with breast cancer, 184 patients (9.06%) harbored pathogenic germline variants, including 22 cases (1.08%) with PALB2 gene mutation and 1 666 cases (82.07%) without gene mutation. Patients with PALB2 gene mutation were at younger ages of onset than the non-mutation carriers group [(39±7) years old vs. (43±9) years old, t = -2.40, P = 0.016] and had higher proportion of early-onset breast cancer (age of onset < 35 years old) than the non-mutation carriers group [31.82% (7/22) vs. 14.83% (247/1 666), χ2 = 4.90, P = 0.036]. Patients with PALB2 gene mutation presented more positive family histories of pancreatic cancer than the non-mutation carriers group [9.09% (2/22) vs. 1.44% (24/1 666), χ2 = 8.38, P = 0.044], higher proportion of histological grade Ⅱ [85.00% (17/20) vs. 61.25% (811/1 324), χ2 = 4.70, P = 0.036], more hormone receptor (HR)-positive and human epidermal growth factor receptor 2 (HER2)-negative patients [86.36% (19/22) vs. 63.53% (1 040/1 637), χ2 = 4.90, P = 0.026], and less HR-positive and HER2-positive patients [0 (0) vs. 16.62% (272/1 637), P = 0.037]. Among 22 patients with PALB2 gene mutation, 18 (81.82%) met the NCCN genetic testing criteria for hereditary breast cancer; among 1 666 patients without gene mutation, 1 166 (69.99%) met the NCCN genetic testing criteria for hereditary breast cancer, and the difference was not statistically significant ( χ2 = 1.45, P = 0.347). Conclusions:The Chinese patients with PALB2 gene-related breast cancer have shown distinct clinical characteristics and genetic etiology. However, a more accurate screening criterion for identifying hereditary breast cancer is still needed in clinical practice.

Surgical approaches of anterior skull base tumors / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#Study for surgical approaches on anterior skull base tumors.@*METHOD@#All 37 cases with anterior skull base tumors were surgically treated. Twenty-one cases were treated with anterior craniofacial approaches: Frontal subcranial combined with total maxillectomy in 8 cases or/with orbital exenteration in 5 cases, combined with lateral rhinotomy in 1 cases, combined with naso translocation with medial maxillectomy in 7 cases. Partial or total maxillary swing combined with naso pyramid translocation in 13 cases. Frontonasal, fronto-orbital and midface degloving in one case respectively.@*RESULT@#Of the 27 malignant cases the 3 and 5-year survival rates were 81.9% (22/27) and 62.9% (17/27) respectively, and one tumor free case living well more than 9 years. There were no recurrence in 10 cases with benign tumor.@*CONCLUSIONS@#Various craniofacial approaches except lateral rhinotomy provide directly satisfactory tumor exposure and facilitate enbloc resection of the naso paranasal sinus tumor with intracranial extension. Partial or total maxillary swing combined with naso pyramid translocation is good for tumor involving the skull base without intracranial invasion. The fronto-nasal pyramid translocation is good for removal of the upper part of nasal tumor with intracranial extension on well developed frontal sinus. The fronto orbital approach is proper for removal of fronto-sphenoid tumor and midface degloving may be used in selected cases.

Preservation of laryngeal function in treatment of hypopharyngeal carcinoma / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To study the surgical technique and results of laryngeal function preservation in treatment of hypopharyngeal carcinoma.</p><p><b>METHODS</b>A retrospective review of 305 patients with malignant neoplasms of the hypopharynx (279 males, 26 females, age ranging from 14 to 77 years) was performed from 1978 to 1996. In the 305 patients (stage I, n = 6; stage II, n = 12; stage III, n = 82; stage IV, n = 205), the sites of origin were pyriform sinus (n = 234), postcricoid (n = 21), posterior pharyngeal wall (n = 35) and superior hypopharynx (n = 15). Of the 305 patients, 206 (67.54%, stage I, n = 6; stage II, n = 12; stage III, n = 65; stage IV, n = 123) were surgically treated with laryngeal function preserved and 99 (32.46%, stage III, n = 17; stage IV, n = 82) had no laryngeal function preserved. All had 55-75 Gy radiotherapy according to their need.</p><p><b>RESULTS</b>A total of 206 patients (67.54%) were surgically treated with laryngeal function preserved, totally (voice, respiration and deglutition) in 139 (67.5%) and partially (voice and deglutition) in 67 (32.5%). 99 patients (32.46%) had no laryngeal function preserved. The overall 5-year survival rate of the 305 patients was 44.8%, which segregated to 83% (stage I), 71% (stage II), 58% (stage III), and 36% (stage IV). The 5-year survival of the laryngeal function preserved group was 48% (n = 66), the rate of complications 28% (n = 58) and the rate of residual tumor 5.8% (n = 12), compared with the no laryngeal function preserved group 37% (n = 20), 31.3% (n = 31), and 6% (n = 6) (P > 0.05).</p><p><b>CONCLUSION</b>Only a small proportion of patients (31/305, 10%) with hypopharyngeal carcinoma who require total laryngectomy and preservation of the laryngeal function is feasible for eradication of tumor and preservation of laryngeal function.</p>