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

AbstractBackground 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.

Download Full-text

Renal Complications Related to Checkpoint Inhibitors: Diagnostic and Therapeutic Strategies

Diagnostics ◽

10.3390/diagnostics11071187 ◽

2021 ◽

Vol 11 (7) ◽

pp. 1187

Author(s):

Julie Belliere ◽

Julien Mazieres ◽

Nicolas Meyer ◽

Leila Chebane ◽

Fabien Despas

Keyword(s):

Checkpoint Inhibitors ◽

Treatment Strategies ◽

Kidney Injury ◽

Immunosuppressive Drugs ◽

Peripheral Tolerance ◽

Electrolyte Disorders ◽

Glomerular Diseases ◽

Renal Complications ◽

Lower Baseline ◽

Low Incidence

Immune checkpoint inhibitors (ICI) targeting CTLA-4 and the PD-1/PD-L1 axis have unprecedentedly improved global prognosis in several types of cancers. However, they are associated with the occurrence of immune-related adverse events. Despite their low incidence, renal complications can interfere with the oncologic strategy. The breaking of peripheral tolerance and the emergence of auto- or drug-reactive T-cells are the main pathophysiological hypotheses to explain renal complications after ICI exposure. ICIs can induce a large spectrum of renal symptoms with variable severity (from isolated electrolyte disorders to dialysis-dependent acute kidney injury (AKI)) and presentation (acute tubule-interstitial nephritis in >90% of cases and a minority of glomerular diseases). In this review, the current trends in diagnosis and treatment strategies are summarized. The diagnosis of ICI-related renal complications requires special steps to avoid confounding factors, identify known risk factors (lower baseline estimated glomerular filtration rate, proton pump inhibitor use, and combination ICI therapy), and prove ICI causality, even after long-term exposure (weeks to months). A kidney biopsy should be performed as soon as possible. The treatment strategies rely on ICI discontinuation as well as co-medications, corticosteroids for 2 months, and tailored immunosuppressive drugs when renal response is not achieved.

Download Full-text

Clinical and biologic features predict poor prognosis in acute lymphoid leukemias in children and adolescents: A pediatric oncology group review

Medical and Pediatric Oncology ◽

10.1002/mpo.2950140306 ◽

1986 ◽

Vol 14 (3) ◽

pp. 135-139 ◽

Cited By ~ 44

Author(s):

W. Crist ◽

J. Boyett ◽

J. Pullen ◽

J. van Eys ◽

T. Vietti

Keyword(s):

Children And Adolescents ◽

Pediatric Oncology ◽

Poor Prognosis ◽

Oncology Group ◽

Pediatric Oncology Group

Download Full-text

Self-Esteem Evaluation in Children and Adolescents Suffering from ADHD

Clinical Practice and Epidemiology in Mental Health ◽

10.2174/1745017901309010096 ◽

2013 ◽

Vol 9 (1) ◽

pp. 96-102 ◽

Cited By ~ 19

Author(s):

Luigi Mazzone ◽

Valentina Postorino ◽

Laura Reale ◽

Manuela Guarnera ◽

Valeria Mannino ◽

...

Keyword(s):

Children And Adolescents ◽

Treatment Strategies ◽

Well Being ◽

Self Esteem ◽

Control Group ◽

Healthy Controls ◽

Adhd Symptoms ◽

The Relationship ◽

Drug Free

Background: Several recent studies investigated the relationship between self-esteem and ADHD, however, the results are still controversial. In the present study we analyze the characteristics of self-esteem in a sample of children and adolescents suffering from ADHD, with a particular focus on the relationship between ADHD symptoms severity and treatment strategies. Methods: A total of 85 patients with ADHD (44 drug-free and 41 drug-treated, 23 of which atomoxetine-treated and 18 Methylphenidate-treated) and 26 healthy controls were enrolled in the study in order to evaluate self-esteem using the Self-esteem Multidimensional Test (TMA). Results: ADHD subjects revealed lower scores on all self-esteem domains compared to controls. Both ADHD drug-free (47.1%) and ADHD drug-treated (44.1%) groups showed significantly higher rates of subjects in the pathological range as compared to normal control group (8.8%) (p <.001) with a higher percentage of subjects in the pathological range. Among ADHD drug-treated subjects, the methylphenidate group showed higher self-esteem scores as compared to the atomoxetine group. Conclusion: A lower self-esteem profile is more common in subjects suffering from ADHD than in healthy controls, suggesting the importance of an early detection of psychological well-being in these children in order to reduce the ADHD symptoms long-term impacts.

Download Full-text

Endoscopic Aspects of Gastric Syphilis

Case Reports in Medicine ◽

10.1155/2012/646525 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 6

Author(s):

Mariana Souza Varella Frazão ◽

Thiago Guimarães Vilaça ◽

Fred Olavo Aragão Andrade Carneiro ◽

Kengo Toma ◽

Carolina Eliane Reina-Forster ◽

...

Keyword(s):

Epigastric Pain ◽

Treponema Pallidum ◽

Rare Event ◽

Immunocompetent Patient ◽

Histopathological Analysis ◽

Neoplastic Disease ◽

Inflammatory Infiltration ◽

Clinical Consultation ◽

Gastric Biopsies ◽

Low Incidence

Introduction. Considered as a rare event, gastric syphilis (GS) is reported as an organic form of involvement. Low incidence of GS emphasizes the importance of histopathological analysis.Objective. We aim to characterize GS endoscopic aspects in an immunocompetent patient.Case Report. A 23-year-old man presented with epigastric pain associated with nausea, anorexia, generalized malaise and 11 kg weight loss that started 1 month prior to his clinical consultation. Physical examination was normal except for mild abdominal tenderness in epigastrium. Endoscopy observed diminished gastric expandability and diffuse mucosal lesions, from cardia to pylorus. Gastric mucosa was thickened, friable, with nodular aspect, and associated with ulcers lesions. Gastric biopsies were performed, and histopathological analysis resulted in dense inflammatory infiltration rich in plasmocytes. Syphilis serologies were positive for VDRL andTreponema pallidumreagents. Immunohistochemical tests were positive forTreponema pallidumand CD138. The patient was treated with penicillin, leading to resolution of his clinical complaints and endoscopic findings.Conclusion. Diagnosis suspicion of GS is important in view of its nonspecific presentation. Patients with gastric symptoms that mimic neoplastic disease should be investigated thoroughly based on the fact that clinical, endoscopic, and histological findings can easily be mistaken for lymphoma or plastic linitis.

Download Full-text

Obsessive–compulsive disorder and tics in children and adolescents

New Oxford Textbook of Psychiatry ◽

10.1093/med/9780199696758.003.0219 ◽

2012 ◽

pp. 1680-1693

Author(s):

Martine F. Flament ◽

Philippe Robaey

Keyword(s):

Children And Adolescents ◽

Treatment Strategies ◽

Tic Disorders ◽

Older Individuals ◽

Obsessive Compulsive ◽

Pharmacological Agents ◽

Assessment And Treatment ◽

Ongoing Relationship

Paediatric OCD is the disorder, in child psychiatry, whose clinical picture most closely resembles its adult counterpart. Despite a relative diversity, the symptom pool is remarkably finite, and very similar to that seen in older individuals. Prevalence, comorbidity, and response to behavioural and drug treatment also appear similar across the lifespan. For tic disorders, there is continuity between child and adult presentations, but the disease is much more prone to resolve spontaneously, or to be less disruptive in adulthood. Both OCD and tics occur more often in males than in females, and are likely to be linked to an array of neurobiological abnormalities, many of which remain to be understood. Invaluable benefits can now be obtained from available behavioural and pharmacological treatments, but complete remission remains uncertain and long-term management may be required. Thus, the treatment of OCD and tics in children and adolescents remains a clinical challenge. It requires careful assessment of the targeted symptoms and, in many cases, comorbidity; attention to the quality of the child's functioning at home and with peers; use of specific CBT interventions, which are not readily available (or accessible) in all communities; patience and caution in the choice and adjustment of medication; and vigilance in watching potential side effects. Given the possible chronicity of OCD and/or tic disorders, and their changing patterns in severity and impact over the childhood and adolescent years, optimal treatment generally requires a long-term ongoing relationship with the child and family. Current conceptualizations of OCD and tic disorders have been shaped by advances in systems neuroscience and functional in vivo neuroimaging. Continued success in these areas should lead to the targetting of specific brain circuits for more intensive research. This should include testing novel pharmacological agents, tracking treatment response using neuroimaging techniques, and possibly investigating circuit-based therapies using deep-brain stimulation for refractory cases. The identification of the PANDAS subgroup of patients, with an abrupt onset and dramatic exacerbations, certainly brings new insights into the pathophysiology of OCD and tic disorders, and may lead to new assessment and treatment strategies. The increasing evidence for susceptibility genes in OCD and tic disorders will also doubtless point to new therapeutic directions. Furthermore, it is likely that many of the empirical findings used in research on paediatric OCD and tic disorders will be relevant to a better understanding of both normal development, and other disorders of childhood onset.

Download Full-text

The Diagnosis and Treatment of Craniopharyngioma

Neuroendocrinology ◽

10.1159/000504512 ◽

2019 ◽

Vol 110 (9-10) ◽

pp. 753-766

Author(s):

Hermann L. Müller

Keyword(s):

Histological Grade ◽

Clinical Manifestations ◽

Treatment Strategies ◽

High Standard ◽

Proton Beam Therapy ◽

Braf V600e ◽

Treatment Quality ◽

Multidisciplinary Teams ◽

Centers Of Excellence ◽

Neuropsychological Sequelae

Craniopharyngioma (CP) is a rare embryonic malformation of the sellar/parasellar region with a low histological grade. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Recent insight into the molecular pathogenesis of CP opens new perspectives on targeted therapy in papillary CP harboring BRAF-V600E mutations. Further research to elucidate pathogenic mechanisms and hopefully prevent hypothalamic involvement of CP is warranted. If the tumor is favorably localized, the therapy of choice is complete resection, with care taken to preserve the optical and hypothalamic functions. In patients with unfavorable tumor localization (i.e., hypothalamic involvement), the recommended therapy is a limited hypothalamus-sparing surgical strategy followed by local irradiation. Surgical treatment strategies should be based on a multidisciplinary approach involving experienced teams. Centralizing the treatment of CP in experienced “centers of excellence” and multicenter-based networks for reference assessments should be considered to assure a high standard of treatment quality. CP recurrence and progression are frequent. Irradiation has proven effective in reducing recurrences and progression. Proton beam therapy, available in a wider range in the near future, will help to avoid radio-oncological side effects. Anatomical involvement and/or surgical lesions of posterior hypothalamic areas can result in serious sequelae that compromise quality of life (QoL), such as hypothalamic obesity and psychopathological symptoms. Novel insights into neuropsychological sequelae after CP occurrence should be the basis for the development of therapeutic neuropsychological interventions. CP should be managed as a frequently chronic disease, providing ongoing care of pediatric and adult patients’ clinical and QoL consequences by experienced multidisciplinary teams.

Download Full-text