Mandible customized distraction osteogenesis in Treacher Collins patient: Literature review, report of a case and post-distraction analysis

Introduction: Treacher-Collins syndrome is a rare genetic disorder with variable phenotypic expression. Related micrognathia can cause upper airway obstruction in neonatal patients because of posterior tongue displacement. Many approaches have been described to treat upper airway obstruction in such patients; the use of mandibular distraction to this purpose was first proposed in 1994. To our knowledge, only a few authors have employed customized devices to perform mandibular distraction in these syndromic patients.This paper presents a systematic review of the use of customized devices to perform mandibular distraction osteogenesis in patients affected by Treacher-Collins syndrome and upper airway obstruction. A case report of a Treacher-Collins syndrome patient treated in our institution is also presented. Results: Eight articles fulfilled the inclusion criteria and were included in this systematic review; demographic, clinical and surgical features of 13 cases were evaluated.Preoperative assessment, virtual surgical planning and a surgical protocol for a Treacher-Collins patient were performed and set-out in detail; a post-distraction 3D analysis workflow was developed and proposed.The patient had an airway obstruction resolution after the distractors removal and was progressively decannulated. The post-distraction 3D analysis revealed that the oropharynx and hypopharynx airway space acquired greater volumetric dimension in a more antero-superior position; this advancement was comparable to the antero-superior advancement of the distracted mandible. Conclusion: In the author's opinion, customized devices for mandibular distraction osteogenesis and post-distraction tridimensional analysis should be objected of further investigation in the light of their potential advantage in diagnosis and treatment of syndromic malformation

Liquid Biopsy Detecting Circulating Tumor Cells in Patients with Non-Small Cell Lung Cancer: Preliminary Results of a Pilot Study

Lung cancer is still the leading cause of cancer-related death worldwide. Interest is growing towards early detection and advances in liquid biopsy to isolate circulating tumor cells (CTCs). This pilot study aimed to detect epithelial CTCs in the peripheral blood of early-stage non-small cell lung cancer (NSCLC) patients. We used Smart BioSurface® (SBS) slide, a nanoparticle-coated slide able to immobilize viable nucleated cellular fraction without pre-selection and preserve cell integrity. Forty patients undergoing lung resection for NSCLC were included; they were divided into two groups according to CTC value, with a cut-off of three CTCs/mL. All patients were positive for CTCs. The mean CTC value was 4.7(± 5.8 S.D.) per ml/blood. In one patient, next generation sequencing (NGS) analysis of CTCs revealed v-raf murine sarcoma viral oncogene homolog B(BRAF) V600E mutation, which has also been identified in tissue biopsy. CTCs count affected neither overall survival (OS, p = 0.74) nor progression-free survival (p = 0.829). Multivariable analysis confirmed age (p = 0.020) and pNodal-stage (p = 0.028) as negative predictors of OS. Preliminary results of this pilot study suggest the capability of this method in detecting CTCs in all early-stage NSCLC patients. NGS on single cell, identified as CTC by immunofluorescence staining, is a powerful tool for investigating the molecular landscape of cancer, with the aim of personalized therapies