Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation

Funding Information: This work has been supported by grants from the Swedish Cancer Society (TM 15-794; TM 20-1213; PK 19-566), the Swedish Childhood Cancer Foundation (TM 16-147; TM 17-166; TM 19-139; PK 17-122; SF 15-61, 18-99; DT 12-002, NC12-0026), the Swedish Research Council (TM 521-2014-3031), the Swedish state under the LUA/ALF agreement (TM ALFGBG-447171) and the Swedish Foundation for Strategic Research (TM/PK RB13-0204, www.nnbcr.se). SF was the recipient of a Research Assistant Fellowship (14-64), by the Swedish Childhood Cancer Foundation. Publisher Copyright: © 2022 by the authors.A preterm infant with central hypoventilation was diagnosed with multifocal neuroblastoma. Congenital anomalies of the autonomic nervous system in association with neuroblastoma are commonly associated with germline mutations in PHOX2B. Further, the ALK gene is frequently mutated in both familial and sporadic neuroblastoma. Sanger sequencing of ALK and PHOX2B, SNP microarray of three tumor samples and whole genome sequencing of tumor and blood were performed. Genetic testing revealed a germline ALK F1174I mutation that was present in all tumor samples as well as in normal tissue samples from the patient. Neither of the patient’s parents presented the ALK variant. Array profiling of the three tumor samples showed that two of them had only numerical aberrations, whereas one sample displayed segmental alterations, including a gain at chromosome 2p, resulting in two copies of the ALK-mutated allele. Whole genome sequencing confirmed the presence of the ALK variant and did not detect any aberrations in the coding or promotor region of PHOX2B. This study is to our knowledge the first to report a de novo ALK F1174I germline mutation. This may not only predispose to congenital multifocal neuroblastoma but may also contribute to the respiratory dysfunction seen in this patient.Peer reviewe

Communicating with individuals receiving home mechanical ventilation : the experiences of key communication partners

Purpose: The aim of the study was to explore the communication experiences of key communications partners (CPs) of individuals receiving home mechanical ventilation (HMV), with particular emphasis on the possibilities, difficulties and limitations CPs experienced in communication, possible support given to facilitate communication and exploring what made a skilled communicator. Method: A qualitative research design using interviews was used. The participants included 19 key CPs of individuals receiving HMV. Results: The analysis resulted in five themes: Encountering communication limitations, Functional communication strategies, Being a communication facilitator, Role insecurity and Emotional reactions and coping. The findings revealed that CPs needed to develop partly new reference frames for communication. In particular, participants emphasised the need to understand and interpret subtle details in the communicative interaction. Conclusions: The findings are discussed in the light of previous research, in particular an earlier study exploring another perspective; the ventilator-supported individuals' experiences of communication. Issues relating to the educational needs of CPs of individuals receiving HMV are discussed. The results are intended to enhance understanding of the challenges that individuals receiving HMV and their CPs face with communication, which should be of relevance not only to speech therapists, but for all healthcare practitioners in the field of HMV