Age-related biological differences in children's and adolescents' very rare tumors

Very rare tumors (VRTs) in pediatric age represent many different diseases. They present an annual incidence < 2/1000,000 and correspond to about 11% of all cancers in patients aged 0–14 years. They can be roughly divided into two groups: one including tumors that are also rare in adults, and the other group includes adult-type tumors rarely encountered in children and adolescents. Although there is an obvious gap in knowledge regarding oncogenesis in pediatric cancers, there is some evidence of the involvement of various signalling pathways in the development of tumors in children and adolescents and sometimes in young adults. In addition, despite the rarity of these neoplasms, several attempts have been made to disclose the underlying mechanisms. More effort and resources have urgently to be devoted to deepening current knowledge and integrating new findings into the therapeutic approach, which nowadays relies on the treatment modalities used in adult oncology. The aim of this paper is to provide a review of the main solid VRTs occurring in both the pediatric and the adult age groups, highlighting the variability between groups in their biological and clinical course

The role of cancer predisposition syndrome in children and adolescents with very rare tumours

Germline predisposing pathogenic variants (GPVs) are present in approximately 8 to 10% of children with all cancer types. Very rare tumours (VRTs) represent many different diseases, defined with an annual incidence < 2 / 1,000,000, and correspond to 11% of all cancers in patients aged 0-14 years. Some of these VRTs, including cancer typical for adults, develop in children with a cancer predisposition syndrome (CPS). Classically, three situations lead to consider this association: Some patients develop a VRT for which histology itself strongly suggests a GPV related to a CPS; others are referred for germline genetic testing because of a family or personal history and finally, a systematic molecular genomic tumour analysis, reveals a PV typical to a CPS. Depending on the samples tested and type of analysis performed, information can be directly available about the germline status of such a PV. Depicting the association between CPS and VRT is clinically important as some of these tumour types require adapted therapy, sometimes in the frontline setting, and the proposal of a specific surveillance programme to detect other malignancies. The diagnosis of CPS necessitates a careful familial evaluation and genetic counselling regarding the risks faced by the child or other family members. The aim of this paper is to propose a literature review of solid VRTs occurring in paediatric and young adult patients associated with CPSs

Les fusarioses disséminées en onco-hématologie (à propos de deux cas réunionnais)

CAEN-BU Médecine pharmacie (141182102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Bread collapse. Causes of the technological defect and impact of depanning time on bread quality

International audienc

BREAD – PAN INTERFACE. IMPACT OF CRUST STRUCTURE ON BREAD DEMOLDING

International audienc

NUT CARCINOMA IN CHILDREN: THE EXPERT EUROPEAN EXPERIENCE

Background and Aims: NUT-carcinoma is a rare, probably underdiagnosed and highly aggressive tumor defined by the presence of a somatic NUTM1 rearrangement. The tumor occurs mainly in adolescents and young adults. We analyzed the clinical, radiologic, and biological features of pediatric patients (≤18 years) with NUT-carcinoma. Methods: This retrospective multicenter international study was based on review of medical records of 24 childrenwith NUT-carcinoma from 5 countries with specific rearrangement or positive anti-NUT nuclear staining. Results: Twenty-four patients with a median age of 14.6 years (range: 3.9–18 years) were analyzed. Thoracic/mediastinal tumors were the primary in 14 patients, and head and neck in 7 cases. One patient had multifocal tumor with unknown primary, another a vocal cord and the last one a pancreas primary. Sixteen patients (67%) presented with regional lymph node involvement and 17 patients (71%) with distant metastases, in most cases lung (38%), distant lymph nodes (38%) and bone marrow (30%). Approximately half of patients were initially misdiagnosed and diagnosis was corrected after NUT immunochemistry or NUT fusion sequencing. Chemotherapy was administered in all patients; nine patients underwent major surgery and 19 radiotherapy. Median overall survival was 0.75 years (range 0.2-11 years) median event free survival 0.4 years (range 0.1-11 years), one patient is currently treated for a subsequent relapse (1.9 years after diagnosis). Three long-term survivors (11, 9.1 and 6.6 years after diagnosis) were identified, these cases were associated with non-metastatic cervical disease and non-metastatic disease with BRD3-NUT-fusion. Conclusions: As in adults, NUT-carcinoma in pediatric patients is poorly sensitive to conventional therapy in most cases. In a minority of patients long-term survival is possible with multimodal treatment. Early diagnosis of undifferentiated or poorly differentiated carcinomas to identify the specific rearrangement of NUT-gene is necessary to initiate the optimal diagnostic and therapeutic strategy

Impact of early molecular response in children with chronic myeloid leukemia treated in the French Glivec phase 4 study

International audienceStudies in adults have shown that an early molecular response to imatinib predicts clinical outcome in chronic myeloid leukemia (CML). We investigated the impact of the BCR-ABL1 transcript level measured 3 months after starting imatinib in a cohort of 40 children with CML. Children with a BCR-ABL1/ABL ratio higher than 10% at 3 months after the start of imatinib had a larger spleen size and a higher white blood cell count compared with those with BCR-ABL1/ABL ≤10%. Children with BCR-ABL1/ABL ≤10% 3 months after starting imatinib had higher rates of complete cytogenetic response and major molecular response at 12 months compared to those with BCR-ABL1/ABL \textgreater10%. With a median follow-up of 71 months (range: 22 to 96), BCR-ABL1/ABL ≤10% correlated with better progression free survival. Thus, early molecular response at 3 months predicts outcome in children treated with imatinib for CML. The study was registered at www.clinicaltrials.gov as NCT00845221

PRIMARY LUNG CARCINOMA IN CHILDREN AND ADOLESCENTS: AN ANALYSIS OF THE EUROPEAN COOPERATIVE STUDY GROUP FOR PEDIATRIC RARE TUMORS (EXPERT)

Background and Aims: Primary lung carcinomas are very rare childhood tumors with an incidence of <2/1,000,000 per year as defined by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT). They represent a challenge to treating physicians as there are few reports on these diseases at this age and no specific recommendations are available. This collaborative analysis of the EXPeRT group was conducted to improve knowledge about the treatment and prognosis of primary lung carcinomas in pediatric patients. Methods:Aretrospective European analysis of all pediatric patients (0- 18 years) with primary lung carcinomas prospectively collected in the EXPeRT databases between 2000 and 2021 was performed. Clinical data including outcomes were analyzed. Results: Thirty-eight patientswere identified with a median age of 12.8 years at diagnosis (range 0 to 17 years). Mucoepidermoid carcinoma (MEC) was the most common entity (n=20), followed by adenocarcinoma (n=12), squamous cell carcinoma (SCC; n=4), adenosquamous carcinoma (n=1) and small-cell lung cancer (n=1). Lymph node metastases occurred rarely in patients with MEC (2 cases), and 19 patients achieved durable remission after surgical resection only. One patient with MEC died after progression of metastasis. Patients with histology other thanMEC often presentedwith advanced disease (stage IV in 14 of 18 cases) and needed multimodality treatment. They had a combined survival rate of 44%. While all patients with SCC died, the 12 patients with adenocarcinoma had a survival rate of 50%. Conclusions: Primary lung carcinoma occur rarely in children. While patients with MEC have a favorable outcome with a survival rate of 95%, patients with other lung carcinoma entities have an unfavorable outcome despite multimodality treatment strategies. This analysis will help propose consensus guidelines for diagnosis and therapy