Risk-adapted therapy in pediatric thyroid cancer: initial experience from a national reference program by the MET group.

Background: Pediatric differentiated thyroid carcinoma (pedDTC) is rare but increasingly prevalent, requiring multidisciplinary care to ensure optimal outcomes. In 2021, the pediatric national reference program of the German Malignant Endocrine Tumor (MET) registry was established to standardize the management of pedDTC, with a particular focus on radioactive iodine (RAI) use and minimizing treatment variability.

Methods: This study evaluated the program's first 3.

A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

SLC35A1-CDG is a very rare type of congenital disorders of glycosylation (CDG) with only five cases known to date. Here, we review the literature and present new data from a sixth patient carrying the uncharacterized variant c.133A>G; p.

Colorectal Carcinoma in Childhood and Adolescence: Microsatellite Instability Correlates With a Favorable Prognosis.

Background: Colorectal cancer (CRC) accounts for 10% of cancer cases worldwide; however, pediatric CRC is extremely rare, with an annual incidence of one to two cases per million. Microsatellite instability (MSI) has been shown to play a relevant prognostic role in adult CRC. Corresponding data for pediatric CRC are lacking.

Appendiceal neuroendocrine tumors in children and adolescents: The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) diagnostic and therapeutic recommendations.

Neuroendocrine tumors of the appendix, formerly known as carcinoid tumors, represent a rare entity. They are slow-growing tumors, characterized by an indolent clinical course. In pediatric patients, the 5-year overall survival is estimated to be 100% and the event-free survival slightly less than 100%, with only one reported case of local relapse to date.

Pancreatic neuroendocrine tumors in children and adolescents-Data from the German MET studies (1997-2023).

Pancreatic neuroendocrine tumors (panNETs) are rare pediatric malignancies with age-specific clinical and biological features. Data on their presentation, management, and outcomes remain limited. This retrospective study analyzed 28 pediatric panNET cases from the German Malignant Endocrine Tumor (MET) Registry enrolled between 1997 and 2024.

Testicular and ovarian Juvenile granulosa cell tumors in children and adolescents: Analysis of 113 patients registered to the German Registry for Rare Pediatric Tumors (STEP).

Background: In juvenile granulosa cell tumors (juvGCTs), impaired survival was reported after preoperative tumor rupture, peritoneal metastases, or high mitotic rate (≥20 mitoses per 10 high-power fields). Therefore, a risk stratification was developed to select patients for chemotherapy.

Methods: Between 2001 and 2019, 89 female patients and 24 male patients were prospectively enrolled.

German S2k-guideline on diagnostics, treatment and surveillance of low-grade appendiceal mucinous neoplasms (LAMN).

The German guideline for low-grade appendiceal mucinous neoplasms (LAMN) and pseudomyxoma peritonei (PMP) offers comprehensive recommendations for diagnosis, treatment, and surveillance of these rare tumours. Developed by the German Society of General and Visceral Surgery (DGAV) alongside 14 other medical societies or task groups, this S2k-guideline addresses the need for standardised care in the absence of high-quality randomized controlled trials due to the rarity of LAMN and PMP. The guideline covers classification and staging of LAMN according to WHO and TNM systems, emphasising histological analysis and surgical protocols aimed at preventing intra-abdominal perforation.

NUT carcinoma in children and adolescents: An analysis of the European Cooperative Study Group on pediatric rare tumors (EXPeRT).

Background And Aims: NUT carcinoma (NC) is a sporadic, highly aggressive tumor that primarily affects children, adolescents, and young adults and is characterized by the presence of somatic NUTM1 rearrangements. This analysis by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) aims to fill the knowledge gap regarding the clinical characteristics of children with NC.

Methods: A retrospective case series of NC-patients aged 0-18 years treated between 2011 and 2023 was conducted using the EXPeRT database.

Efficacy of anti PD-1 therapy in children and adolescent melanoma patients (MELCAYA study).

Background: Data on the efficacy and safety of anti PD-1 antibodies in children and adolescents (CA) with melanoma are lacking. The aim of this study was to determine outcomes of CA melanoma patients receiving anti PD-1 antibodies.

Methods: Melanoma patients ≤18 years treated with anti PD-1 were retrospectively retrieved from 15 academic centers.

Paediatric very rare tumours registration and management in European countries with low health expenditure average rates.

Purpose: Within the Paediatric Rare Tumours Network-European Registry (PARTNER) project, we aimed to evaluate the situation on the registration and management of paediatric patients affected by very rare tumours (VRT) in the European low health expenditure average rates (LHEAR) countries.

Methods: A survey regarding infrastructure, organisation, and clinical decision-making information on VRT was designed. This survey was distributed to the representatives of LHEAR countries involved in the activities of the PARTNER Work Package 7.

Expression of the tumor antigens NY-ESO-1, tyrosinase, MAGE-A3, and TPTE in pediatric and adult melanoma: a retrospective case control study.

Tumor-associated antigens (TAAs) are potential targets for T cell-based immunotherapy approaches in cutaneous melanoma. BNT111, an investigational lipoplex-formulated mRNA-based therapeutic cancer vaccine encoding melanoma TAAs NY-ESO-1, tyrosinase, MAGE-A3, and TPTE, is undergoing clinical testing in adults. Expression of these TAAs in pediatric melanoma is unclear but is a prerequisite for feasibility of this treatment approach in children with melanoma.

Clinical management of NUT carcinoma (NC) in Germany: Analysis of survival, therapy response, tumor markers and tumor genome sequencing in 35 adult patients.

NUT carcinomas (NC) are very rare and highly aggressive tumors, molecularly defined by an aberrant gene fusion involving the NUTM1 gene. NCs preferentially arise intrathoracically or in the head and neck region, having a highly adverse prognosis with almost no long-term survivors. Here, we report on a cohort of 35 adult NC patients who were evaluated at University Hospital Tuebingen in an eight year time span, i.

Targeted therapies in retinoblastoma: GD2-directed immunotherapy following autologous stem cell transplantation and evaluation of alternative target B7-H3.

Background: GD2-directed immunotherapy is highly effective in the treatment of high-risk neuroblastoma (NB), and might be an interesting target also in other high-risk tumors.

Methods: The German-Austrian Retinoblastoma Registry, Essen, was searched for patients, who were treated with anti-GD2 monoclonal antibody (mAb) dinutuximab beta (Db) in order to evaluate toxicity, response and outcome in these patients. Additionally, we evaluated anti-GD2 antibody-dependent cell-mediated cytotoxicity (ADCC) and complement-dependent cytotoxicity (CDC) in retinoblastoma cell lines in vitro.

Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition.

Background: Melanomas of the central nervous system (CNS) based on neurocutaneous melanocytosis (NCM) are exceptionally rare in childhood and have been described only sporadically. Rapidly progressive disease may represent a major challenge for treating physicians, especially given the limited knowledge about this condition. This analysis aimed to increase knowledge about the occurrence and treatment of these malignancies.

NUT carcinoma in pediatric patients: Characteristics, therapeutic regimens, and outcomes of 11 cases registered with the German Registry for Rare Pediatric Tumors (STEP).

Background And Aims: Nuclear protein of the testis (NUT) carcinoma (NC) is a rare and highly aggressive tumor defined by the presence of a somatic NUTM1 rearrangement, occurring mainly in adolescents and young adults. We analyzed the clinical and biological features of German pediatric patients (≤18 years) with NC.

Methods: This study describes the characteristics and outcome of 11 children with NC registered in the German Registry for Rare Pediatric Tumors (STEP).

Solid pseudopapillary neoplasms of the pancreas in childhood and adolescence-an analysis of the German Registry for Rare Pediatric Tumors (STEP).

Unlabelled: Solid pseudopapillary neoplasms (SPNs) are the most common entity among pediatric pancreatic tumors. Still, these are rare tumors with an annual incidence of 0.1-0.

UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.

Background: Genomic characterisation has led to an improved understanding of adult melanoma. However, the aetiology of melanoma in children is still unclear and identifying the correct diagnosis and therapeutic strategies remains challenging.

Methods: Exome sequencing of matched tumour-normal pairs from 26 paediatric patients was performed to study the mutational spectrum of melanomas.

Bronchial carcinoid tumors in children and adolescents - A report and management considerations from the German MET studies.

Objectives: Bronchial carcinoid tumors (BC) are exceptionally rare in childhood, with an incidence of <0.2/1,000,000 per year. Typical low-grade BCs are distinguished from atypical, intermediate-grade BCs.

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.

The prevalence of pathogenic and likely pathogenic (P/LP) variants in genes associated with cancer predisposition syndromes (CPS) is estimated to be 8-18% for paediatric cancer patients. In more than half of the carriers, the family history is unsuspicious for CPS. Therefore, broad genetic testing could identify germline predisposition in additional children with cancer resulting in important implications for themselves and their families.

Anti-GD2 Antibody Dinutuximab Beta and Low-Dose Interleukin 2 After Haploidentical Stem-Cell Transplantation in Patients With Relapsed Neuroblastoma: A Multicenter, Phase I/II Trial.

Purpose: Patients with relapsed high-risk neuroblastoma (rHR-NB) have a poor prognosis. We hypothesized that graft-versus-neuroblastoma effects could be elicited by transplantation of haploidentical stem cells (haplo-SCT) exploiting cytotoxic functions of natural killer cells and their activation by the anti-GD2 antibody dinutuximab beta (DB). This phase I/II trial assessed safety, feasibility, and outcomes of immunotherapy with DB plus subcutaneous interleukin-2 (scIL2) after haplo-SCT in patients with rHR-NB.

Epidemiology and Characteristics of Gastric Carcinoma in Childhood-An Analysis of Data from Population-Based and Clinical Cancer Registries.

(1) Background: Gastric carcinoma is an exceptionally rare tumor in childhood. Little is known about the etiology, epidemiology, and clinical features of pediatric gastric carcinomas. This analysis aimed to fill this gap by increasing knowledge about the occurrence of gastric carcinoma in childhood.

Outcome for Pediatric Adreno-Cortical Tumors Is Best Predicted by the COG Stage and Five-Item Microscopic Score-Report from the German MET Studies.

Background: Adrenocortical tumors (ACTs) encompassing the adrenocortical adenoma (ACA), carcinoma (ACC), and tumors of undetermined malignant potential (ACx) are rare endocrine neoplasms with a poor prognosis. We report on pediatric ACT patients registered with the Malignant Endocrine Tumor studies and explore the EXPeRT recommendations for management. Patients: Data from the ACT patients (<18 years) were analyzed.