35 research outputs found
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 MĂ©decine 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