“…Finally, hyper-diploid DNA content was found in 29/30 (97%) cases (Table 1). Our observation, together with those of other investigators [14–16], confirms that Neuroblastoma can occur during the first year of life and is associated with few genetic aberrations and a favorable clinical stage. In fact, it is interesting to note that 53% (16/30) of patients onset as stage 1; 13% (4/30) as stage 2; 7% (2/30) stage 3; 24% (7/30) stage 4S and only 3% (1/30) stage 4.…”
Section: Main Textsupporting
confidence: 90%
“…2), which suggests that the initiation of this tumor occurs during fetal development. This concept has been further supported by Gigliotti et al [14] who reported that 6 cases out of 45 stage 4S Neuroblastoma were detected in utero .Fig. 2Distribution of stage 4 and stage 4S Italian patients from the National Neuroblastoma Register according to the age of the patients at diagnosis.…”
Section: Main Textmentioning
confidence: 60%
“…Clinical observations strongly support the notion that the course of stage 4S Neuroblastoma is initiated with non-aggressive behavior during embryonic life and that this tumor continues to develop during infancy [14] (see also: The European study, LINES 2009 (Low and Intermediate Risk Neuroblastoma European Study), ClinicalTrials.gov Identifier: NCT01728155). This is supported by the fact that tumors of stage 4S patients have several numerical CNVs, whereas stage 4 tumors are characterized by a high number of structural CNVs [10].…”
BackgroundNeuroblastoma is a pediatric cancer with a low survival rate of patients with metastatic stage 4 disease. Tumor aggressiveness and progression have been associated with structural copy number variations (CNVs) that are observed in malignant cells. In contrast, localized Neuroblastomas, which are associated with a low number of structural CNVs but frequent numerical CNVs, are less aggressive, and patients have good outcomes. Finally, whole-genome and whole-exome sequencing of Neuroblastoma tissues have shown few damaging mutations in these tumors.ConclusionsIn the present report it is proposed that chromosome instability (CIN) plays a major role in Neuroblastoma tumorigenesis and that CIN is already present in the early phases of tumor development. High CIN can promote several types of chromosomal damage including chromothripsis, gene deletion, amplification and rearrangements, which deregulate gene expression. Indeed, gene rearrangements have been reported as a new scenario in the development of Neuroblastoma, which supports the hypothesis that CIN is an early step preliminary to the late catastrophic events leading to tumor development.
“…Finally, hyper-diploid DNA content was found in 29/30 (97%) cases (Table 1). Our observation, together with those of other investigators [14–16], confirms that Neuroblastoma can occur during the first year of life and is associated with few genetic aberrations and a favorable clinical stage. In fact, it is interesting to note that 53% (16/30) of patients onset as stage 1; 13% (4/30) as stage 2; 7% (2/30) stage 3; 24% (7/30) stage 4S and only 3% (1/30) stage 4.…”
Section: Main Textsupporting
confidence: 90%
“…2), which suggests that the initiation of this tumor occurs during fetal development. This concept has been further supported by Gigliotti et al [14] who reported that 6 cases out of 45 stage 4S Neuroblastoma were detected in utero .Fig. 2Distribution of stage 4 and stage 4S Italian patients from the National Neuroblastoma Register according to the age of the patients at diagnosis.…”
Section: Main Textmentioning
confidence: 60%
“…Clinical observations strongly support the notion that the course of stage 4S Neuroblastoma is initiated with non-aggressive behavior during embryonic life and that this tumor continues to develop during infancy [14] (see also: The European study, LINES 2009 (Low and Intermediate Risk Neuroblastoma European Study), ClinicalTrials.gov Identifier: NCT01728155). This is supported by the fact that tumors of stage 4S patients have several numerical CNVs, whereas stage 4 tumors are characterized by a high number of structural CNVs [10].…”
BackgroundNeuroblastoma is a pediatric cancer with a low survival rate of patients with metastatic stage 4 disease. Tumor aggressiveness and progression have been associated with structural copy number variations (CNVs) that are observed in malignant cells. In contrast, localized Neuroblastomas, which are associated with a low number of structural CNVs but frequent numerical CNVs, are less aggressive, and patients have good outcomes. Finally, whole-genome and whole-exome sequencing of Neuroblastoma tissues have shown few damaging mutations in these tumors.ConclusionsIn the present report it is proposed that chromosome instability (CIN) plays a major role in Neuroblastoma tumorigenesis and that CIN is already present in the early phases of tumor development. High CIN can promote several types of chromosomal damage including chromothripsis, gene deletion, amplification and rearrangements, which deregulate gene expression. Indeed, gene rearrangements have been reported as a new scenario in the development of Neuroblastoma, which supports the hypothesis that CIN is an early step preliminary to the late catastrophic events leading to tumor development.
“…The majority of these are small, localized adrenal tumors at the time of diagnosis 1 . Surgical resection is the standard treatment, with excellent overall results 2–8 . Two lines of evidence suggest that expectant observation may decrease the need for resection.…”
Structured Abstract
OBJECTIVE
To demonstrate that expectant observation of young infants with small adrenal masses would result in excellent event-free and overall survival (EFS and OS).
SUMMARY BACKGROUND DATA
Neuroblastoma is the most common malignant tumor in infants, and in young infants, 90% are located in the adrenal gland. Although surgical resection is standard therapy, multiple observations suggest that expectant observation could be a safe alternative for infants <6 months old who have small adrenal masses.
METHODS
A prospective study of infants less than six months of age with small adrenal masses and no evidence of spread beyond the primary tumor was performed at participating Children’s Oncology Group institutions. Parents could choose observation or immediate surgical resection. Serial abdominal sonograms and urinary VMA and HVA measurements were performed over a ninety-week interval. Infants experiencing a 50% increase in the volume of the mass or urine catecholamine values, or an increase in the HVA/VMA ratio >2 were referred for surgical resection.
RESULTS
87 eligible patients were enrolled, 83 elected observation and 4 chose immediate surgery. 16 observation patients ultimately had surgery; 8 had INSS stage 1 neuroblastoma, 2 had higher stage neuroblastoma (2B and 4S), 2 had low grade adrenocortical neoplasm, 2 had adrenal hemorrhage and 2 had extralobar pulmonary sequestration. The two patients with adrenocortical tumors were resected because of a >50% increase in tumor volume. The 3-year EFS for a neuroblastoma event was 97.7±2.2% within the entire cohort of patients (n=87). The 3-year overall survival was 100% with median follow-up of 3.2 years. 81% of patients on the observation arm were spared resection.
CONCLUSIONS
Expectant observation of infants <6 months old with small adrenal masses led to excellent EFS and OS while avoiding surgical intervention in a large majority of the patients.
“…In our case, diagnosed at the age of 4 days, there was no symptom associated with neuroblastoma and physical examination was normal. Although neuroblastomas detected at early ages are thought to have the same good prognosis as in older infants, there is no universally accepted strategy for management [3,4]. In a large series consisting of infants with localized neuroblastomas, Hero et al [5] demonstrated that spontaneous regression is generally seen in this patient group and a wait-and-see strategy can be justified.…”
Section: Figure 1 Ultrasound Scan Of the Right Adrenal Mass In Transvmentioning
Neuroblastoma is the most common extracranial solid tumor in pediatric age group. Clinical presentation of neuroblastoma is mostly related to origin of the tumor, extent of disease, and the presence of paraneoplastic syndromes. Here the authors report a neonate with neuroblastoma with an atypical presentation, diagnosed with postnatal abdominal ultrasonography performed due to polyhydramniosis in her mother during pregnancy.
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