Emily R. Christison-Lagay

NTRK fusion oncogenes in pediatric papillary thyroid carcinoma in northeast United States

An increase in thyroid cancers, predominantly papillary thyroid carcinoma (PTC), has been recently reported in children.

Primary Low-Grade Fibromyxoid Sarcoma of the Kidney in a Child with the Alternative EWSR1-CREB3L1 Gene Fusion

We present the case of a 6-year-old boy with a deceptively bland spindle cell renal neoplasm found to harbor the EWSR1-CREB3L1 gene fusion. This fusion has recently been described as a variant translocation in low-grade fibromyxoid sarcoma (LGFMS), a tumor more typically characterized by a recurrent t(7;16) chromosomal translocation, resulting in the fusion of FUS and CREB3L2 genes. LGFMS is an indolent tumor with late metastatic potential and a propensity for long-term disease recurrence. The tumor is rare in children, with only 33 published cases. In the pediatric population, it has not previously been reported arising in the kidney.

Surgery for Thyroid Cancer

The incidence of thyroid cancer, particularly papillary thyroid cancer, is rising at an epidemic rate. The mainstay of treatment of most patients with thyroid cancer is surgery. Considerable controversy exists about the extent of thyroid surgery and lymph node resection in patients with thyroid cancer. Surgical experience in judgment and technique is required to achieve optimal patient outcomes.

Pathologic leadpoint is uncommon in ileo-colic intussusception regardless of age

PURPOSE Historically, the rate of pathologic leadpoints in older children with intussusception is quoted as 20%-25%. Our anecdotal experience suggested a lower rate. We therefore compiled a case series to examine the actual incidence of pathologic leadpoint, and treatment success, by age. METHODS A retrospective review was performed of all patients admitted with intussusception between 1998 and 2012 and tested for differences in anatomic location, presence of pathologic leadpoint, and need for operative intervention, on the basis of age. RESULTS In total, 154 cases of intussusception were diagnosed in 141 patients (136 ileo-colic), 38 of which were in children older than 3 (29 ileo-colic). Considering all anatomic locations, older children were more likely to have a pathologic leadpoint (p-value 0.01); however subgroup analysis of ileo-colic intussusception demonstrated no difference (p-value 0.38). Additionally, there was no difference in the success of pneumatic or barium enema reduction on the basis of age (p-value 0.56). CONCLUSION Despite historical reports of increased pathologic leadpoints in ileo-colic intussusception in older children, in this series the majority were idiopathic. Non-operative management was successful approximately 75% of the time, irrespective of age. In older age groups, there was an increased frequency of pathologic leadpoints in small bowel-small bowel intussusception.

Complications in head and neck surgery

Head and neck anatomy is topographically complex and the region is densely populated by vital nerves and vascular and lymphatic structures. Injury to many of these structures is associated with significant morbidity and may even be fatal. A thorough knowledge of regional anatomy is imperative and complications need to be managed in a thoughtful directed manner. The pediatric surgeon may be called upon to address both congenital and acquired conditions and should be prepared to encounter reoperative fields after failed initial surgery. This review summarizes the current literature on four frequently encountered surgical conditions of the head and neck: branchial cleft anomalies, thyroglossal duct cyst, thyroid disease, and lymphatic malformations, with a focus on the prevention and treatment of complications.

Congenital Lung Malformations

The development of the foregut, including the division of the esophagus from the tracheobronchial tree and the patterning and differentiation of the pulmonary anlage remains incompletely understood. Nonetheless, the last decade has made remarkable progress toward developing a more sophisticated model of the dynamic interactions of endoderm and mesoderm that give rise to the tracheobronchial tree, lung, and esophagus. Congenital cystic lesions such as congenital pulmonary airway malformation (alternatively congenital pulmonary adenomatoid malformation) (CPAM), bronchopulmonary sequestration (BPS), bronchogenic cysts, foregut duplications, and congenital lobar emphysema (CLE) arise from discrete perturbations within this interaction.

Trends in the use of puberty blockers among transgender children in the United States

Abstract Background: The objective of the study was to identify national trends in the utilization of histrelin acetate implants among transgender children in the United States. Methods: We analyzed demographic, diagnostic and treatment data from 2004 to 2016 on the use of histrelin acetate reported to the Pediatric Health Information System (PHIS) to determine the temporal trends in its use for transgender-related billing diagnoses, e.g. “gender identity disorder”. Demographic and payer status data on this patient population were also collected. Results: Between 2004 and 2016, the annual number of implants placed for a transgender-related diagnosis increased from 0 to 63. The average age for placement was 14 years. Compared to natal females, natal males were more likely to receive implants (57 vs. 46) and more likely to have implants placed at an older age (62% of natal males vs. 50% of natal females were ≥;13 years; p<0.04). The majority of children were White non-Hispanic (White: 60, minority: 21). When compared to the distribution of patients treated for precocious puberty (White: 1428, minority: 1421), White non-Hispanic patients were more likely to be treated with a histrelin acetate implant for a transgender-related diagnosis than minority patients (p<0.001). This disparity was present even among minority patients with commercial insurance (p<0.001). Conclusions: Utilization of histrelin acetate implants among transgender children has increased dramatically. Compared to natal females, natal males are more likely to receive implants and also more likely to receive implants at an older age. Treated transgender patients are more likely to be White when compared to the larger cohort of patients being treated with histrelin acetate for central precocious puberty (CPP), thus identifying a potential racial disparity in access to medically appropriate transgender care.

Trends in the “Off-Label” Use of GnRH Agonists Among Pediatric Patients in the United States

Background. Gonadotropin-releasing hormone (GnRH) agonists are FDA approved for the treatment of precocious puberty. The therapy consists of histrelin acetate (Supprelin), a surgically implanted device, or Lupron injections. In recent years, the use of these agents has been extended to include the off-label treatment of children with normally timed puberty. Trends in the off-label use of GnRH agonists in children across the U.S. have not been previously described in the literature. Methods. We analyzed data on the use of Supprelin and Lupron reported to the Pediatric Health Information System (PHIS) from 2013 to 2016 to determine the trends in both the FDA–approved and off-label uses of these medications. Results. We identified a stable cohort of 39 children’s hospitals administering GnRH agonist therapies from 2013 to 2016. During this period, the annual number of children treated with these medications for precocious puberty increased modestly, from 283 to 303; meanwhile, the fraction of children receiving therapy for an off-label indication more than doubled, from 12% (39 of 322 total patients) to 29% (125 of 428 total patients). Privately insured patients were more likely to be treated for an off-label indication (13%; 119 out of 883 patients) than Medicaid patients (8%; 58 out of 706 patients; χ2[1] = 10.97, P = .00093). Conclusion. From 2013 to 2016, the proportion of children treated with GnRH agonists for an off-label indication notably increased. The number of children treated for precocious puberty modestly increased. Private insurance coverage was associated with higher rates of off-label use.