Rare Tumors in Children and Adolescents – the STEP Working Groupʼs Evolution to a Prospective Registry

Abstract

Background Very rare tumors (VRT) in children and adolescents have such a low incidence that until recently, they have not been integrated into the clinical and scientific network of pediatric oncology. Data is very limited and consistent treatment strategies are missing. Thus, VRTs are classic orphan diseases. To counteract this problem, the Arbeitsgemeinschaft für Seltene Tumorerkrankungen in der Pädiatrie (STEP) was founded. Here we report on patient recruitment during the first 10 years. Patients Patients aged up to 18 years and not included in any other clinical trial or GPOH registry were included in this analysis. Methods Data was collected from 2008 to 2018 by means of a standardized form. The recorded diagnoses were descriptively analyzed focusing on histology, localization, and year of report. Results A total of 623 patients with VRTs were registered. During 2008–2014, the annual number of registrations was around 40 and is around 90 since 2015. Most frequent diagnoses included tumors of the skin (n=150), tumors of the gastrointestinal tract (n=102), tumors of the gonads (n=77), the ENT region (n=68), and miscellaneous tumors (n=107). Discussion With the establishment of central structures for clinical consultation and documentation of VRTs, the number of registrations increased. Comprehensively, VRTs are as common as other classic pediatric oncology tumors, but extremely heterogeneous in terms of localization, histology, and prognosis. By a centralized and complete registration and analysis of VRTs, also in collaboration with international partners, it is possible to develop treatment strategies and thus greatly increase treatment quality.

The French FRACTURE database: A way to improve knowledge on management of children with very rare tumors

“…23 Between 2008 and 2018, 623 patients with VRTs were registered in STEP registry. 22 The inclusion criteria and the type of tumors registered are very similar to those of the FRACTURE database. 9,27 Finally, all of these studies allowed the EXPeRT group to build and publish care recommendations for the treatment of such rare diseases.…”

“…The German Pediatric Rare Tumor Group (STEP) was founded in 2006 23 . Between 2008 and 2018, 623 patients with VRTs were registered in STEP registry 22 . The inclusion criteria and the type of tumors registered are very similar to those of the FRACTURE database.…”

“…In recent years, a number of countries have set up their own registries for very rare pediatric tumors in order to better understand these diseases. [20][21][22][23] The Italian TREP project (Project on Rare Pediatric Tumors) was the first of these when it was launched in 2000. 21 Overall, 297 patients were registered in this database between 2000 and 2005.…”

NCI intramural program approach to rare tumors: Natural history study of rare solid tumors in children and adults: A longitudinal, comprehensive data and biospecimen collection protocol

“…Although significant advances have been made in survival of children and adults with cancer over the past 30 years, there is a subset of tumors where more progress is needed. 4 Very rare pediatric tumors, defined as less than two cases per million per year, comprise approximately 11% of pediatric tumors. 5 These tumors occur so infrequently that little is known about their natural history, clinical behavior, molecular/genetic characteristics, optimal medical and psychosocial management, and drug response.…”

“…Basic scientific studies of somatic mutations in tumor tissues have contributed to improved understanding of the biology of cancers and to development of new therapies. Although significant advances have been made in survival of children and adults with cancer over the past 30 years, there is a subset of tumors where more progress is needed 4 . Very rare pediatric tumors, defined as less than two cases per million per year, comprise approximately 11% of pediatric tumors 5 .…”