Clinical Features of Neuroblastoma with 11q Deletion: An Increase in Relapse Probabilities in Localized and 4S Stages

Abstract

Neuroblastoma (NB) is a heterogeneous tumor with an extremely diverse prognosis according to clinical and genetic factors, such as the presence of an 11q deletion (11q-del). A multicentric study using data from a national neuroblastic tumor database was conducted. This study compared the most important features of NB patients: presence of 11q-del, presence of MYCN amplification (MNA) and remaining cases. A total of 357 patients were followed throughout an 8-year period. 11q-del was found in sixty cases (17%). 11q-del tumors were diagnosed at an older age (median 3.29 years). Overall survival (OS) was lower in 11q-del patients (60% at 5 years), compared to all other cases (76% at 5 years) p = 0.014. Event free survival (EFS) was 35% after 5 years, which is a low number when compared with the remaining cases: 75% after 5 years (p < 0.001). Localized tumors with 11q-del have a higher risk of relapse (HR = 3.312) such as 4 s 11q-del patients (HR 7.581). 11q-del in NB is a dismal prognostic factor. Its presence predicts a bad outcome and increases relapse probability, specially in localized stages and 4 s stages. The presence of 11q aberration should be taken into consideration when stratifying neuroblastoma risk groups.

An overview of neuroblastoma cell lineage phenotypes andin vitromodels

“…44 Its presence is also related to a less favorable outcome and with an increased probability of disease recurrence, even in patients with localized tumors. 45 This poor outcome reinforces the relevance of the inclusion of the 11q chromosome status as one of the criteria for NB risk classification.…”

Next-Generation Sequencing Identifies Potential Actionable Targets In Pediatric Sarcomas

“…This is mostly explained because despite being originated from a mesenchymal cell, they constitute different histologic entities with different genomic landscapes that explain their unequal behaviours. Beside pathology, chromosomal segmental aberrations, 16 changes in ploidy and speci c gene alterations are routinely used in order to guide intensity of treatment in pediatric oncology protocols.…”

Circulating tumor DNA in neuroblastoma

“…Serum‐based analysis of 11q loss can be used to distinguish 11q loss‐positive and loss‐negative NB with high sensitivity and specificity 45 . Patients with NB carrying an 11q deletion have shorter overall survival and event‐free survival times, and an 11q deletion can predict a higher risk of relapse for localized diseases 46 . When tumor tissue samples are not required or cannot be obtained, the analysis of cfDNA supplies the status of 11q, which can be used to estimate the prognosis and predicted relapse time.…”