Total Resection of Pediatric Desmoid Tumor of the Left Neck with Utilization of 3D Virtual Surgical Planning.

A 13-year-old girl with a painful left neck mass was referred to our institution due to suspicions of malignancy. The patient reported pain that accompanied her frequent neck spasms. Computed tomography revealed a large, soft-tissue mass in the left neck, deep to the sternocleidomastoid. The lesion anteriorly displaced the internal carotid artery and both displaced and crushed the internal left jugular vein. Uniquely, a three-dimensional virtual reality model combining magnetic resonance imaging and computed tomography data was used to determine the lesion's resectability and visualize which structures would be encountered or require protection while ensuring total resection. During operation, we confirmed that the mass also laterally displaced the brachial plexus, cranial nerves X and XI, and spinal nerves C3-C5 (including the phrenic) of the cervical plexus. Postsurgical pathological analysis confirmed a diagnosis of desmoid tumor, also known as aggressive fibromatosis, whereas DNA sequencing revealed a CTNNB1 mutation, a somatic genetic marker found in approximately 90% of desmoid tumor cases. When possible, the most widely used method for the treatment of desmoid tumors has been gross resection. Chemotherapy, radiotherapy, and local excision are also used in the treatment of fibromatoses when complete resection is judged infeasible. In this case, a complete surgical resection with tumor-free surgical margins was performed. A standard cervical approach with a modified posterolateral incision site was implemented to avoid a conspicuous anterior neck scar. No flap, nerve repair, or reconstruction was warranted. At 1 year of postsurgical follow-up, the patient showed minimal scarring and no signs of recurrence.

Primary Primitive Neuroectodermal Tumor of the Spine With t(11;22): Report of 3 Cases and Review of Literature.

Intradural extramedullary peripheral primitive neuroectodermal tumor (pPNET) with t(11;22) is a rare clinical finding in the pediatric population with few published cases in the literature. The authors report 3 cases of intradural primary pPNET and discuss the clinical presentation, treatment, and survival of the patients. Clinicians should be vigilant in considering pPNET in the differential diagnosis of extradural masses. The authors also compare the clinical course and outcome of therapy with primary PNET of the central nervous system and Ewing sarcoma family of tumors. In addition, this report highlights the risk for leptomeningeal dissemination at recurrence and discusses the importance of central nervous system-targeted therapy for durable disease control.

Primary diffuse leptomeningeal glioneuronal tumors of the central nervous system: Report of three cases and review of literature.

Primary diffuse leptomeningeal glioneuronal tumors (DLGNT) are rare tumors, recently recognized as a unique entity based on their unique pathologic and clinical characteristics. We report three cases of DLGNT and compare their clinical characteristics and presentation with other reported cases, and with primary leptomeningeal gliomatosis. Because their prognosis is better than that of diffuse leptomeningeal gliomatosis, and pathologic diagnosis may be difficult, clinicians should consider this diagnosis in patients who present with new neurological symptoms, hydrocephalus and diffuse leptomeningeal enhancement on MRI. Further studies are required to better understand the unique biological characteristics of these tumors and to improve therapy.

Referral for Ophthalmology Evaluation and Visual Sequelae in Children With Primary Brain Tumors.

Importance: Visual impairment in children with brain tumors has received limited attention, as most pediatric neuro-oncology clinical trials neither require ophthalmologic evaluation on enrollment nor monitor effects of treatment on visual function during and after treatment. Objective: To investigate ophthalmology referral patterns for children with primary brain tumors, the prevalence of visual sequelae, and the association between tumor characteristics and vision-related diagnoses. Design, Setting, and Participants: This retrospective cohort study included 141 children with primary brain tumors treated at Loma Linda University Children's Hospital and Eye Institute, a university-based tertiary referral center, between January 2013 and September 2017. Data analysis was completed in March 2019. Intervention: Comprehensive ophthalmologic evaluation for children with primary brain tumors. Main Outcomes and Measures: Percentage of patients with ophthalmology evaluation, prevalence of abnormal ophthalmic findings, and their association with tumor characteristics. Results: A total of 141 children (73 [52%] male; median [range] age, 7 [0-18] years) with primary brain tumors were enrolled in this study. Seventy-three patients (41 [52%] male; median [range] age, 8 [0-17] years) never had formal ophthalmologic evaluation. Sixty-eight patients (32 [48%] male; median [range] age, 7 [0-18] years) were evaluated by 1 of 4 board-certified, fellowship-trained pediatric and/or neuro-ophthalmologists for any visual impairment over a total of 222 visits. Five-year overall survival for patients who had eye examination was not significantly different from those who did not (mean [SD] survival, 78.3% [6.2%] vs 84.9% [4.7%]). Median (range) time from tumor diagnosis to initial ophthalmologic evaluation was 9 (0-94) months. Only 10 of 68 children (15%) presented with visual symptoms at tumor diagnosis, while 61 of 68 (90%) had abnormal findings on examination, including strabismus (41 [60%]), visual acuity impairment (37 [54%]), amblyopia (26 [38%]), papilledema (24 [35%]), visual field defects (13 [19%]), optic atrophy (12 [18%]), and keratopathy (10 [15%]). Strabismus occurred more frequently in patients with posterior fossa tumors (26 of 68 in posterior fossa vs 15 of 68 in other locations; P = .02). The presence of visual field defects in patients with no visual symptoms was 15% (9 of 58). Radiation was significantly associated with amblyopia (odds ratio, 4.5; 95% CI, 1.2-15.7; P = .02). Conclusions and Relevance: In this study, more than 50% of children with primary brain tumors were not referred for ophthalmologic evaluation. Although visual symptoms were uncommon, visual impairments occurred more frequently than previously reported. Ophthalmologic evaluation is recommended to identify and manage visual impairment and prevent permanent vision loss in children with brain tumors.

Safety and accuracy of 68Ga-DOTATOC PET/CT in children and young adults with solid tumors.

68Ga-DOTA-tyr3-Octreotide (68Ga-DOTATOC) PET/CT has been shown to have high accuracy in adults with neuroendocrine tumors, however has not been studied in pediatric patients. This study evaluated the safety and accuracy of 68Ga-DOTATOC PET/CT in children and young adults with solid tumors that express somatostatin receptor type 2. A series of three prospective, IRB approved, clinical trials evaluating safety and efficacy of 68Ga-DOTATOC PET/CT were conducted for subjects aged 6 months to 90 years. This study reports the results for the 26 children and young adults, aged 16 months to 29 years who participated in these trials. The administered activity of 68Ga-DOTATOC was 1.59 MBq/kg with an upper limit of 111 MBq for subjects < 18 years and 148 MBq for young adults. Safety was assessed with laboratory studies and patient/parent report of symptoms before and after the scan. Scans were interpreted in consensus by two board-certified nuclear medicine physicians. Each scan was categorized on a patient basis as true positive, true negative, false negative or false positive against a reference standard that included a combination of histopathology, other imaging modalities and clinical follow-up. Nine Grade I adverse events (AEs) occurred among 26 subjects, none of which were attributable to 68Ga-DOTATOC. Sensitivity of 68Ga-DOTATOC PET/CT was 88% (14 true positive, 2 false negative) and specificity was 100% (10 true negative, 0 false positive). 68Ga-DOTATOC PET/CT is safe and accurate in children and young adults with solid tumors expressing somatostatin receptor type 2.

Successful treatment of tacrolimus-related pure red cell aplasia and autoimmune hemolytic anemia with rituximab in a pediatric cardiac transplant patient.

Acquired pure red cell aplasia (PRCA) and autoimmune hemolytic anemia (AIHA) are rare complications of immunosuppression in pediatric solid organ transplant patients. We report a 14-month-old female child who developed Coombs positive hemolytic anemia and reticulocytopenia while on tacrolimus after cardiac transplantation. She was successfully treated with rituximab after failing treatment with corticosteroids and intravenous immunoglobulins. Clinicians should consider PRCA differential diagnosis in a patient presenting with reticulocytopenia and hemolysis. In addition, the coexistence of PRCA with AIHA, and the response to therapy with rituximab, supports a common immune-mediated pathogenesis for both disorders.

Favorable outcome to glucocorticoid therapy for engraftment syndrome in pediatric autologous hematopoietic cell transplant.

UNLABELLED: ES remains an important cause of morbidity and mortality in children undergoing auto-HCT. Glucocorticoid use in ES is an area of debate. We retrospectively analyzed single-institution experience from September 2000 through December 2012 to evaluate the use of glucocorticoids in auto-HCT patients. ES was defined by the occurrence of new onset of non-infectious fever plus diarrhea, rash, or pulmonary infiltrates 24-h before or within five days after neutrophil engraftment. Sixty-five pediatric patients (<21 yr) with different solid tumors underwent auto-HCTs in the study period. Fifteen patients (23%) fulfilled criteria for ES, of which 13 received methylprednisolone (2 mg/kg IV for 3-5 days). Clinical improvement occurred in all patients within 48 h without significant complications. In the non-ES group, 11 patients received glucocorticoid without significant complications as well. MEL-based regimens were found to be significant factor for ES (p < 0.05). Fever, edema, non-infectious diarrhea, and serum albumin concentration were statistically different between the two groups. Median hospital length of stay was higher in the ES group. CONCLUSION: ES is a common complication in children after auto-HCT and short-course glucocorticoid therapy is an effective and well-tolerated treatment, even in those who did not completely fulfill diagnostic criteria.