Ines B. Brecht
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View article: European clinical guidance for the management of adrenal and extra-adrenal paraganglioma in children and adolescents: a consensus by the EXPeRT group
European clinical guidance for the management of adrenal and extra-adrenal paraganglioma in children and adolescents: a consensus by the EXPeRT group Open
Background Adrenal (formerly termed pheochromocytomas) and extra-adrenal paragangliomas (PGLs) in children and adolescents are rare neuroendocrine tumors characterized by unique biological behavior, a strong hereditary component, and signi…
View article: Melanoma of the Choroid and Ciliary Body in Children: Remission of Metastatic Melanoma of the Choroid After Treatment With Chemotherapy and Immune Checkpoint Inhibition
Melanoma of the Choroid and Ciliary Body in Children: Remission of Metastatic Melanoma of the Choroid After Treatment With Chemotherapy and Immune Checkpoint Inhibition Open
Background Uveal melanoma is the most common malignant primary intraocular tumor in adults, associated with high mortality. Pediatric uveal melanoma generally has a more favorable course. However, when metastasis occurs, therapeutic option…
View article: 274 Comprehensive spatial immune profiling of pediatric NUT carcinoma identifies novel prognostic signatures and B7-H3 as a target for CAR-T cell therapy
274 Comprehensive spatial immune profiling of pediatric NUT carcinoma identifies novel prognostic signatures and B7-H3 as a target for CAR-T cell therapy Open
View article: Multi-modal omics analysis of a paediatric melanoma highlights mechanisms underlying treatment resistance
Multi-modal omics analysis of a paediatric melanoma highlights mechanisms underlying treatment resistance Open
View article: Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults
Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults Open
This study provides crucial insights into the genomic landscape across different types of pediatric lung cancer. We observed frequent presence of ALK fusions in pediatric LUAD + ASC, which are less common in adult LUAD. Other alterations i…
View article: Gastrointestinal neuroendocrine neoplasms in children and adolescents – data from the German MET studies (1997-2024)
Gastrointestinal neuroendocrine neoplasms in children and adolescents – data from the German MET studies (1997-2024) Open
Introduction: Gastrointestinal neuroendocrine neoplasms (GI-NENs) outside the appendix and pancreas are exceptionally rare in children and adolescents. Limited data on presentation, treatment, and outcomes hinder clinical decision-making. …
View article: Risk-adapted therapy in pediatric thyroid cancer: initial experience from a national reference program by the MET group
Risk-adapted therapy in pediatric thyroid cancer: initial experience from a national reference program by the MET group Open
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 Endoc…
View article: Colorectal Carcinoma in Childhood and Adolescence: Microsatellite Instability Correlates With a Favorable Prognosis
Colorectal Carcinoma in Childhood and Adolescence: Microsatellite Instability Correlates With a Favorable Prognosis Open
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 re…
View article: Appendiceal neuroendocrine tumors in children and adolescents: The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) diagnostic and therapeutic recommendations
Appendiceal neuroendocrine tumors in children and adolescents: The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) diagnostic and therapeutic recommendations Open
View article: Melanoma of the choroid and ciliary body in children: Remission of metastatic melanoma of the choroid after treatment with chemotherapy and immune checkpoint inhibition
Melanoma of the choroid and ciliary body in children: Remission of metastatic melanoma of the choroid after treatment with chemotherapy and immune checkpoint inhibition Open
View article: Pancreatic neuroendocrine tumors in children and adolescents—Data from the German <scp>MET</scp> studies (1997–2023)
Pancreatic neuroendocrine tumors in children and adolescents—Data from the German <span>MET</span> studies (1997–2023) Open
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 pediat…
View article: 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)
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) Open
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 w…
View article: German S2k-guideline on diagnostics, treatment and surveillance of low-grade appendiceal mucinous neoplasms (LAMN)
German S2k-guideline on diagnostics, treatment and surveillance of low-grade appendiceal mucinous neoplasms (LAMN) Open
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 Societ…
View article: Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10
Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10 Open
View article: NUT carcinoma in children and adolescents: An analysis of the European Cooperative Study Group on pediatric rare tumors (EXPeRT)
NUT carcinoma in children and adolescents: An analysis of the European Cooperative Study Group on pediatric rare tumors (EXPeRT) Open
View article: A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers
A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers Open
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.Th…
View article: Paediatric very rare tumours registration and management in European countries with low health expenditure average rates
Paediatric very rare tumours registration and management in European countries with low health expenditure average rates Open
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 he…
View article: Efficacy of anti PD-1 therapy in children and adolescent melanoma patients (MELCAYA study)
Efficacy of anti PD-1 therapy in children and adolescent melanoma patients (MELCAYA study) Open
Our study provides the first evidence of efficacy of anti PD-1 in CA melanoma patients and supports the use of anti PD-1 therapy in pts ≤18 years, included those <12 years.
View article: Expression of the tumor antigens NY-ESO-1, tyrosinase, MAGE-A3, and TPTE in pediatric and adult melanoma: a retrospective case control study
Expression of the tumor antigens NY-ESO-1, tyrosinase, MAGE-A3, and TPTE in pediatric and adult melanoma: a retrospective case control study Open
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, t…
View article: Characterization of <scp>PRAME</scp> immunohistochemistry reveals lower expression in pediatric melanoma compared to adult melanoma
Characterization of <span>PRAME</span> immunohistochemistry reveals lower expression in pediatric melanoma compared to adult melanoma Open
Pediatric melanomas are rare tumors that have clinical and histological differences from adult melanomas. In adult melanoma, the immunohistochemical marker PRAME is increasingly employed as a diagnostic adjunct. PRAME is also under investi…
View article: Clinical management of NUT carcinoma (NC) in Germany: Analysis of survival, therapy response, tumor markers and tumor genome sequencing in 35 adult patients
Clinical management of NUT carcinoma (NC) in Germany: Analysis of survival, therapy response, tumor markers and tumor genome sequencing in 35 adult patients Open
View article: Very rare tumors are not so rare in children
Very rare tumors are not so rare in children Open
The European Journal of Cancer-Paediatric Oncology journal is pleased to present a special issue on very rare tumors of pediatric age. Since the 70th, the international pediatric oncology community has succeeded in developing many effectiv…
View article: Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition
Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition Open
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…
View article: Targeted therapies in retinoblastoma: GD2-directed immunotherapy following autologous stem cell transplantation and evaluation of alternative target B7-H3
Targeted therapies in retinoblastoma: GD2-directed immunotherapy following autologous stem cell transplantation and evaluation of alternative target B7-H3 Open
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 …
View article: Focus on melanotic neuroectodermal tumor of infancy
Focus on melanotic neuroectodermal tumor of infancy Open
Melanotic neuroectodermal tumor of infancy (MNTI) is a very rare benign neoplasm of probable neurocristic origin. It primarily affects children in the first year of life, with the median age at diagnosis of 4.5 months (range 0-804 months).…
View article: NUT carcinoma in pediatric patients: Characteristics, therapeutic regimens, and outcomes of 11 cases registered with the German Registry for Rare Pediatric Tumors (STEP)
NUT carcinoma in pediatric patients: Characteristics, therapeutic regimens, and outcomes of 11 cases registered with the German Registry for Rare Pediatric Tumors (STEP) Open
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 clinic…
View article: Olfactory neuroblastoma in children and adolescents: The EXPeRT recommendations for diagnosis and management
Olfactory neuroblastoma in children and adolescents: The EXPeRT recommendations for diagnosis and management Open
Olfactory neuroblastoma (ON) is a rare tumor commonly presenting between 50 and 60 years of age. In pediatric age this tumor is even rarer, with an estimated incidence of 0.1 per 100,000 children up to 15 years. It arises from the olfactor…
View article: A virtual consultation system for very rare tumors in children and adolescents – an initiative of the European Cooperative Study Group in Rare Tumors in Children (EXPeRT)
A virtual consultation system for very rare tumors in children and adolescents – an initiative of the European Cooperative Study Group in Rare Tumors in Children (EXPeRT) Open
Background: Very rare tumors (VRTs) in children and adolescents are orphan diseases defined by an annual incidence of <2/1000,000. For a long time, VRTs have been outside of clinical and research groups in the field of pediatric oncology. …
View article: Salivary gland carcinomas in children and adolescents: A retrospective analysis of the European Cooperative Study Group for Pediatric Rare Tumours (EXPeRT)
Salivary gland carcinomas in children and adolescents: A retrospective analysis of the European Cooperative Study Group for Pediatric Rare Tumours (EXPeRT) Open
View article: Solutions for optimal care and research for children and adolescents with extremely rare cancers developed within the Joint Action for Rare Cancers (JARC)
Solutions for optimal care and research for children and adolescents with extremely rare cancers developed within the Joint Action for Rare Cancers (JARC) Open