Development and pilot validation of a novel disfigurement severity scale for plexiform neurofibromas in children with neurofibromatosis type 1.

BACKGROUND/AIMS: We developed an observer disfigurement severity scale for neurofibroma-related plexiform neurofibromas to assess change in plexiform neurofibroma-related disfigurement and evaluated its feasibility, reliability, and validity. METHODS: Twenty-eight raters, divided into four cohorts based on neurofibromatosis type 1 familiarity and clinical experience, were shown photographs of children in a clinical trial (NCT01362803) at baseline and 1 year on selumetinib treatment for plexiform neurofibromas (n = 20) and of untreated participants with plexiform neurofibromas (n = 4). Raters, blinded to treatment and timepoint, completed the 0-10 disfigurement severity score for plexiform neurofibroma on each image (0 = not at all disfigured, 10 = very disfigured). Raters evaluated the ease of completing the scale, and a subset repeated the procedure to assess intra-rater reliability. RESULTS: Mean baseline disfigurement severity score for plexiform neurofibroma ratings were similar for the selumetinib group (6.23) and controls (6.38). Mean paired differences between pre- and on-treatment ratings was -1.01 (less disfigurement) in the selumetinib group and 0.09 in the control (p = 0.005). For the disfigurement severity score for plexiform neurofibroma ratings, there was moderate-to-substantial agreement within rater cohorts (weighted kappa range = 0.46-0.66) and agreement between scores of the same raters at repeat sessions (p > 0.05). In the selumetinib group, change in disfigurement severity score for plexiform neurofibroma ratings was moderately correlated with change in plexiform neurofibroma volume with treatment (r = 0.60). CONCLUSION: This study demonstrates that our observer-rated disfigurement severity score for plexiform neurofibroma was feasible, reliable, and documented improvement in disfigurement in participants with plexiform neurofibroma shrinkage. Prospective studies in larger samples are needed to validate this scale further.

Value of a multidisciplinary geriatric oncology committee on patient care in a community-based, academic cancer center.

INTRODUCTION: The heterogeneity in health and functional ability among older patients makes the management of cancer a unique challenge. The Geriatric Oncology Program at the University of Maryland Baltimore Washington Medical Center (BWMC) was created to optimize cancer management for older patients. This study aimed to assess the benefits of the implementation of such a program at a community-based academic cancer center. MATERIALS AND METHODS: We analyzed patients aged ≥80 years presenting to the Geriatric Oncology Program between 2017 and 2022. A multidisciplinary team of specialists collectively reviewed each patient using geriatric-specific domains and stratified each patient into one of three management groups- Group 1: those deemed fit to receive standard oncologic care (SOC); Group 2: those recommended to receive optimization services prior to reassessment for SOC; and Group 3: those deemed to be best suited for supportive care and/or hospice care. RESULTS: The study cohort consisted of 233 patients, of which 76 (32.6%) received SOC, 43 (18.5%) were optimized, and 114 (49.0%) received supportive care or hospice referral. Among the optimized patients, 69.8% were deemed fit for SOC upon re-evaluation following their respective optimization services. The Canadian Study of Health and Aging-Clinical Frailty Scale (CSHA-CFS) score was implemented in 2019 (n = 90). Patients receiving supportive/hospice care only had an average score of 5.8, while the averages for those in the optimization and SOC groups were 4.6 and 4.1, respectively (p ≤0.001). Patients receiving SOC had the longest average survival of 2.71 years compared to the optimization (2.30 years) and supportive care groups (0.93 years) (p ≤0.001). For all patients that underwent surgical interventions post-operatively, 23 patients (85%) were discharged home and four (15%) were discharged to a rehabilitation facility. DISCUSSION: The present study demonstrates the profound impact that the complexities in health status and frailty among older individuals can have during cancer management. The Geriatric Oncology Program at BWMC maximized treatment outcomes for older adults through the provision of SOC therapies and optimization services, while also minimizing unnecessary interventions on an individual patient-centric level.

Successful Closure of a Tracheoesophageal Fistula Using an Over-The-Scope Clip.

A tracheoesophageal fistula (TEF) is a pathological connection between the trachea and esophagus, which can either occur congenitally or be acquired. An acquired TEF may occur secondary to malignancy, chemoradiotherapy, infection, or trauma. Hallmark symptoms typically associated with TEF include choking with food intake, productive cough, pneumonia, or failure to thrive. The management of TEF has predominantly involved surgical or endoscopic intervention such as esophageal or airway stenting, suturing, or ablation. More recently, the endoscopic over-the-scope clip (OTSC) has emerged as an effective method of TEF management. The OTSC grasps the mucosa overlaying lesion and seals the defect, thus making it an effective treatment option for the endoscopic closure of various GI defects such as fistulas, bleeding ulcers, and perforations. We report a case of a TEF, acquired secondary to underlying malignancy, and its successful treatment with the use of an OTSC placement. A 79-year-old female with a significant history of diffuse large B-cell lymphoma (DLBCL) currently undergoing chemotherapy was admitted to the hospital for aspiration pneumonia. She presented with persistent productive cough and subsequent limited oral intake ability while initially presenting for DLBCL six months prior with an enlarging right-sided neck mass. Her positron emission tomography-computed tomography (PET-CT) imaging showed a cavitary lesion in the superior mediastinum with increased fluorodeoxyglucose (FDG) lymphatic uptake. She had an esophagogram followed by an esophagogastroduodenoscopy (EGD), due to aspiration concerns, which demonstrated a fistula site with tracheal secretions about 20 cm from the incisors. An OTSC was used to close the esophageal opening and successful closure was confirmed using real-time fluoroscopic imaging by the unimpeded passage of contrast in the stomach without leakage. At follow-up, she was able to tolerate an oral diet without any significant difficulty or symptom recurrence. We present a case of successful endoscopic management of TEF with an OTSC that resulted in immediate fistula closure and improvement in the patient's quality of life. This particular case highlights the ability of OTSC to provide more durable and long-term closure than other management techniques due to its mechanism of grasping more tissue for approximation and its association with less morbidity compared to alternative surgical interventions. Although previous reports describing the technical feasibility and utility of OTSC in TEF repair support its use, there is still a paucity of data exploring the long-term efficacy of OTSC in TEF management; therefore, additional prospective studies are necessary.

Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1.

Background: Plexiform neurofibromas (PN) in neurofibromatosis 1 (NF1) can cause substantial morbidities. Clinical trials targeting PN have recently described decreases in PN volumes. However, no previous study has assessed the association between changes in PN volumes and PN-related morbidities. Our objective was to assess if increasing PN volume in NF1 is associated with increasing PN-related morbidity. Methods: This is a retrospective review of patients enrolled on the NCI NF1 natural history study with ≥7 years of data available. Morbidities including pain, motor dysfunction, vision loss, and PN-related surgery were assessed at time of baseline PN MRI with volumetric analysis and time of MRI with maximum PN volume. Results: Forty-one patients (median age at baseline 8 y) with 57 PN were included. At baseline, 40 PN had at least 1 PN-associated morbidity. During the observation period, 27 PN required increasing pain medication, and these PN grew faster per year (median difference 8.3%; 95% CI: 2.4, 13.8%) than those PN which did not. PN resulting in motor impairment at baseline (n = 11) had larger volumes compared with those that did not (median difference 461 mL; 95% CI: 66.9, 820). Conclusions: Many NF1 PN were associated with clinically significant morbidity at baseline, highlighting the need for longitudinal morbidity evaluations starting at an early age to capture changes in PN-associated morbidities. Prospective evaluation of standardized patient reported and functional outcomes in clinical trials are ongoing and may allow further characterization of the association of PN volume increase or decrease and clinical changes.