Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencing.

OBJECTIVE: To increase the clinical awareness of the need for genetic evaluation for congenital myotonic dystrophy (CDM1) in cases of fetal akinesia sequence and idiopathic polyhydramnios. METHODS: Retrospective case review. RESULTS: A 27 y.o. G1P0 with no significant family history presented for ultrasound at 25 weeks gestation. Notable findings included lack of extension of the fetal arms and legs with bilateral talipes consistent with fetal akinesia sequence. Polyhydramnios with an amniotic fluid index of 32.2 cm was also present. Amniotic fluid obtained by amniocentesis was sent for chromosomal microarray and a next generation sequencing fetal akinesia panel which both returned normal. The patient underwent serial amnioreductions for recurrent severe polyhydramnios with removal of a total of 9.3 L. Further amniotic fluid testing for CDM1 identified >200 repeats in one copy of the fetal DMPK gene, consistent with a diagnosis of CDM1. The patient was delivered at 35 weeks gestation and neonatal demise occurred on the second day of life. CONCLUSION: Congenital myotonic dystrophy should be a consideration for cases of severe polyhydramnios identified by ultrasound. Myotonic dystrophy is detected using PCR and southern blot and is not typically included on next generation sequencing (NGS) panels that test for similar conditions. Clinicians should consider more specialized genetic testing than microarray and NGS in these cases.

Human Papillomavirus Impact on Temporal Treatment Trends in Oropharyngeal Carcinoma: 2010-2016.

INTRODUCTION: The study objective was to identify practice patterns in oropharyngeal cancer management from 2010 to 2016 among human papillomavirus (HPV)-associated and non-HPV-associated oropharyngeal squamous-cell carcinoma (OPSCC) patients. METHODS: The National Cancer Database was utilized to identify OPSCC patients from 2010 to 2016. Frequency distributions and multivariable analyses were generated to identify practice patterns and predictors of treatment modality. RESULTS: A total of 35,956 patients with nonmetastatic OPSCC were included. HPV status was not associated with a treatment modality preference. At academic centers, the proportion of HPV-associated OPSCC patients versus non-HPV-associated OPSCC patients undergoing surgical management was similar (35.7%; 35.9%). Community cancer programs treated patients less often surgically but with no significant treatment preference based on HPV status. Within each facility type, HPV status was not a predictor of surgical or nonsurgical management. CONCLUSION: HPV association does not appear to significantly influence treatment modality preference among OPSCC patients. The proportion of OPSCC patients undergoing surgical treatment declined from 2010 to 2016.

Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists.

OBJECTIVE: To assess the clinical implementation of non-invasive prenatal testing (NIPT) among maternal-fetal medicine (MFM) specialists. METHOD: Practicing MFMs were invited by email to complete questionnaires via SurveyMonkey©. RESULTS: Of 278 respondents, 56% were male, 48% practiced in academic centers, and 94% currently offer NIPT. NIPT is most often being offered 'to specific patients meeting certain criteria' (59.2%), for indications of advanced maternal age (87.5%), abnormal screen results (94.9%), abnormal ultrasound findings (90.2%), and 'when a high-risk patient declines invasive diagnostic testing' (73.7%). Thirteen percent indicated NIPT is being offered as a diagnostic test. Regardless of whether NIPT was presented as a diagnostic or screening test, 65.3% of MFMs estimate 'some' of their patients have undergone invasive testing for confirmation. Responses were mixed concerning appropriate populations and diagnostic capabilities of NIPT, but MFMs generally agree NIPT should be confirmed with invasive testing and will replace conventional screening procedures. CONCLUSION: Assessment indicates NIPT is being adopted by MFMs, largely in accord with recently published American College of Obstetricians and Gynecologists and the Society for MFM guidelines. Cost and test performance remain factors for not adopting NIPT. Further research on clinical management based on NIPT results and patient understanding of NIPT results is suggested.

Disease and toxicity outcomes for a modern cohort of patients with squamous cell carcinoma of cutaneous origin involving the parotid gland: Comparison of volumetric modulated arc therapy and pencil beam scanning proton therapy.

OBJECTIVES: We sought to describe outcomes for locally advanced cutaneous squamous cell carcinoma (SCC) involving the parotid treated with volumetric modulated arc therapy (VMAT) versus pencil beam scanning proton beam therapy (PBT). MATERIALS AND METHODS: Patients were gathered from 2016 to 2022 from 5 sites of a large academic RT department; included patients were treated with RT and had parotid involvement by: direct extension of a cutaneous primary, parotid regional spread from a previously or contemporaneously resected but geographically separate cutaneous primary, or else primary parotid SCC (with a cutaneous primary ostensibly occult). Acute toxicities were provider-reported (CTCAE v5.0) and graded at each on treatment visit. Statistical analyses were conducted. RESULTS: Median follow-up was 12.9 months (1.3 - 72.8); 67 patients were included. Positive margins/extranodal extension were present in 34 cases; gross disease in 17. RT types: 39 (58.2 %) VMAT and 28 (41.8 %) PBT. Concurrent systemic therapy was delivered in 10 (14.9 %) patients. There were 17 treatment failures (25.4 %), median time of 168 days. Pathologically positive neck nodes were associated with locoregional recurrence (p = 0.015). Oral cavity, pharyngeal constrictor, and contralateral parotid doses were all significantly lower for PBT. Median weight change was -3.8 kg (-14.1 - 5.1) for VMAT and -3 kg (-16.8 - 3) for PBT (p = 0.013). Lower rates of ≥ grade 1 xerostomia (p = 0.002) and ≥ grade 1 dysguesia (p < 0.001) were demonstrated with PBT. CONCLUSIONS: Cutaneous SCC involving the parotid can be an aggressive clinical entity despite modern multimodal therapy. PBT offers significantly lower dose to organs at risk compared to VMAT, which seemingly yields diminished acute toxicities.

Regionalization of Head and Neck Oncology Tumor Boards: Perspectives of Collaborating Physicians.

Objectives: To survey academic and community physician preferences regarding the virtual multidisciplinary tumor board (MTB) for further improvement and expansion. Study Design: This anonymous 14-question survey was sent to individuals that participated in the head and neck virtual MTBs. The survey was sent via email beginning August 3, 2021, through October 5, 2021. Setting: The University of Maryland Medical Center and regional practices in the state of Maryland. Methods: Survey responses were recorded and presented as percentages. Subset analysis was performed to obtain frequency distributions by facility and provider type. Results: There were 50 survey responses obtained with a response rate of 56%. Survey participants included 11 surgeons (22%), 19 radiation oncologists (38%), and 8 medical oncologists (16%), amongst others. More than 96% of participants found the virtual MTB to be useful when discussing complex cases and impactful to future patient care. A majority of respondents perceived a reduction in time to adjuvant care (64%). Community and academic physician responses strongly agreed that the virtual MTB improved communication (82% vs 73%), provided patient-specific information for cancer care (82% vs 73%), and improved access to other specialties (66% vs 64%). Academic physicians, more so than community physicians, strongly agreed that the virtual MTB improves access to clinical trial enrollment (64% vs 29%) and can be useful in obtaining CME (64% vs 55%). Conclusion: Academic and community physicians view the virtual MTB favorably. This platform can be adapted regionally and further expanded to improve communication between physicians and improve multidisciplinary care for patients.

Skull Base Regeneration During Treatment With Chemoradiation for Nasopharyngeal Carcinoma: A Case Report.

Background: Advanced cases of nasopharyngal carcinoma can present with skull base invasion. Treatment of these advanced cases with radiotherapy poses a challenge given proximity of tumor to critical neural structures as well as concern that a skull base defect and associated complications could develop with tumor regression. Case Presentation: A 34-year-old male patient presented with a 7-cm nasopharyngeal tumor invading the skull base with destruction of the clivus and intracranial extension. He underwent a course of definitive chemoradiation, requiring use of adaptive radiotherapy, that resulted in complete tumor regression and is free of disease 5 years posttreatment. Imaging done during treatment demonstrated that significant regeneration of bone occurred simultaneously with tumor regression. Conclusions: This case demonstrates that it is possible for bony regeneration to occur simultaneously with tumor regression in a patient with skull base invasion by tumor, precluding the need for neurosurgical intervention.

Airway management, symptom relief and best supportive care in anaplastic thyroid cancer.

PURPOSE OF REVIEW: Anaplastic thyroid cancer (ATC) is a rare but aggressive form of thyroid cancer that is associated with significant morbidity and mortality. Because ATC is locally invasive, airway management is a critical component of treating these patients. Timely decisions regarding airway interventions can contribute to symptom relief and supportive care for patients. Over the last decade, there has been a paradigm shift in our recommendations for airway management. The purpose of this review is to summarize airway management, symptom relief and best supportive care for patients with ATC. RECENT FINDINGS: More recent literature discusses the morbidities associated with tracheostomy and instead focuses on the benefits of supportive care and surgical resection. The multidisciplinary treating team should initiate early discussions for airway management, end-of-life care and palliative goals for patients with ATC. Tracheostomy should be offered to patients with careful thought and preoperative planning. SUMMARY: Our goal in symptom relief and airway management is to improve the quality of life of patients with ATC and avoid the unnecessary morbidity of tracheostomy until clinically indicated.

Current Trends in Neonatal Tracheostomy.

IMPORTANCE: The indications for neonatal tracheostomy may have changed with current noninvasive respiratory therapies compared with previous decades. OBJECTIVES: To study the current trends in neonatal tracheostomy and identify the primary indication for the procedure and risk factors for failed extubation. DESIGN, SETTING, AND PARTICIPANTS: This retrospective medical record review included 47 neonates who underwent tracheostomy from January 1, 2009, to December 31, 2013, at the University of Maryland Children's Hospital. Group 1 included infants undergoing tracheostomy for the primary indication of upper airway obstruction; group 2, infants with primary pulmonary disease. Data on weight, gestational age, comorbid conditions, congenital abnormalities, complications, outcomes, and indications for tracheostomy were compared statistically between groups. MAIN OUTCOMES AND MEASURES: Differences in gestational age, birth weight, and age at tracheostomy. RESULTS: Among the 47 infants included in the study (30 boys; 17 girls, mean [SD] age, 113 [73] days), 31 (66%) demonstrated anatomical causes of airway obstruction, and 16 (34%) had significant pulmonary disease. Among infants with anatomical causes, subglottic stenosis represented the largest group (11 of 31 [35%]). The mean age at the time of tracheostomy was significantly lower in the group with airway obstruction (98.9 vs 146.9 days; difference, 48 [95% CI, 4.8-91.2] days; P = .04). No procedure-related morbidity or mortality was encountered. CONCLUSIONS AND RELEVANCE: Anatomical upper airway obstruction may be returning as the most common indication for a neonatal tracheostomy, thereby supporting the belief that current respiratory therapies have lowered the burden of chronic lung disease and the need for prolonged ventilatory care.