Mediastinal neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: Pathology review and diagnostic approach.

Published on Jun 15, 2021in Seminars in Diagnostic Pathology2.511
· DOI :10.1053/J.SEMDP.2021.06.007
Joon Hyuk Choi21
Estimated H-index: 21
(Yeungnam University),
Jae Y. Ro112
Estimated H-index: 112
(Cornell University)
Neuroblastic tumors are a group of tumors of the sympathetic ganglia and adrenal medulla that derive from primordial neural crest cells. These tumors include neuroblastoma, intermixed ganglioneuroblastoma, nodular ganglioneuroblastoma, and ganglioneuroma. Neuroblastomas are the most common extracranial solid tumor arising in childhood and may occur in different anatomic sites. Neuroblastic tumors are common mesenchymal tumors of the mediastinum. Herein, we describe advances in our understanding of neuroblastic tumor biology. Pathologists should be aware of diagnostic challenges associated with these tumors to ensure correct histologic diagnosis and appropriate clinical management. We describe updated mediastinal neuroblastic tumor pathology, focusing on morphological, immunohistochemical, and molecular features and differential diagnoses.
Context.— Several countries of the Central America and Caribbean region have been sharing regional neuroblastoma (NB) treatment guidelines. However, there is no standardization in the diagnosis, su...
1 CitationsSource
#1Jessica L. Bell (MLU: Martin Luther University of Halle-Wittenberg)H-Index: 14
#2Sven Hagemann (MLU: Martin Luther University of Halle-Wittenberg)H-Index: 2
Last. Stefan Hüttelmaier (MLU: Martin Luther University of Halle-Wittenberg)H-Index: 49
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Neuroblastoma is a common childhood cancer with almost a third of those affected still dying, thus new therapeutic strategies need to be explored. Current experimental therapies focus mostly on inhibiting oncogenic transcription factor signalling. Although LIN28B, DICER and other RNA-binding proteins (RBPs) have reported roles in neuroblastoma development and patient outcome, the role of RBPs in neuroblastoma is relatively unstudied. In order to elucidate novel RBPs involved in MYCN-amplified an...
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#1Paula Rios (Paris V: Paris Descartes University)H-Index: 4
#2Helen D. Bailey (Paris V: Paris Descartes University)H-Index: 15
Last. Jacqueline Clavel (Paris V: Paris Descartes University)H-Index: 65
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: Neuroblastoma (NB) is the most common extra-cranial tumour in children. Little is known about the aetiology of NB. The early age at onset and the embryonic nature suggest a role for perinatal exposures. We conducted a pooled analysis of two French national population-based case-control studies to explore whether there was an association between parental smoking and alcohol consumption and the risk of NB. The mothers of 357 NB cases and 1,783 controls from general population, frequency matched ...
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BACKGROUND: Neuroblastoma is a biologically and clinically heterogeneous disease. Based on recent studies demonstrating an association between the primary tumor site, prognosis, and commonly measured tumor biological features, we hypothesized that neuroblastomas arising in different sites would show distinct genomic features reflective of the developmental biology of the sympathicoadrenal nervous system. METHODS: We first compared genomic and epigenomic data of primary diagnostic neuroblastomas ...
11 CitationsSource
#1Julia A. Bridge (TGen: Translational Genomics Research Institute)H-Index: 1
#2Janos Sumegi (UNMC: University of Nebraska Medical Center)H-Index: 20
Last. Andrew S. BrohlH-Index: 22
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Molecular diagnostics of sarcoma subtypes commonly involve the identification of characteristic oncogenic fusions. EWSR1-PATZ1 is a rare fusion partnering in sarcoma, with few cases reported in the literature. In the current study, a series of 11 cases of EWSR1-PATZ1 fusion positive malignancies are described. EWSR1-PATZ1-related sarcomas occur across a wide age range and have a strong predilection for chest wall primary site. Secondary driver mutations in cell-cycle genes, and in particular CDK...
38 CitationsSource
#1Naohiko Ikegaki (UIC: University of Illinois at Chicago)H-Index: 34
#2Hiroyuki Shimada (Children's Hospital Los Angeles)H-Index: 101
Neuroblastoma, as well defined by Willis,1 is an embryonal tumor of neural crest origin. Tumors of the neuroblastoma group include neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. We believe that all ganglioneuromas were once neuroblastomas in the early stage of tumor development.1,2 They are collectively called peripheral neuroblastic tumors (pNTs) and are known to present with a wide range of clinical behavior, from spontaneous regression and tumor maturation to aggressive progression ...
8 CitationsSource
#1Junkichi Takemoto (Kyushu University)H-Index: 4
#2Masaaki KudaH-Index: 7
Last. Yoshinao Oda (Kyushu University)H-Index: 71
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Summary The RNA-binding protein HuC/D displays a neuron-specific expression and is involved in neuronal differentiation and the maintenance of the nervous system. Here we investigated the diagnostic value of HuC/D in neuroblastomas. We evaluated 85 neuroblastic tumors: 81 neuroblastomas; 3 ganglioneuroblastomas, intermixed; 1 ganglioneuroma, maturing; and 101 other tumors consisting of 34 Ewing sarcomas, 14 nephroblastomas, 11 rhabdomyosarcomas, 15 pulmonary small cell carcinomas, 18 pancreatic ...
4 CitationsSource
#1Arlene NaranjoH-Index: 28
#2Meredith S. IrwinH-Index: 31
Last. Wendy B. LondonH-Index: 82
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PurposeThe International Neuroblastoma Risk Group (INRG) Staging System (INRGSS) was developed through international consensus to provide a presurgical staging system that uses clinical and imaging data at diagnosis. A revised Children's Oncology Group (COG) neuroblastoma (NB) risk classification system is needed to incorporate the INRGSS and within the context of modern therapy. Herein, we provide statistical support for the clinical validity of a revised COG risk classification system.Patients...
16 CitationsSource
#1Isidro MachadoH-Index: 24
#2Akihiko YoshidaH-Index: 44
Last. Antonio Llombart-Bosch (University of Valencia)H-Index: 51
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Abstract Background Despite extensive immunohistochemical (IHC) and molecular studies combined with morphologic findings, a group of round/ovoid cell tumors histologically similar to Ewing sarcomas (ES) but lacking EWSR1-rearrangements may remain unclassifiable. Design We retrospectively analyzed 41 Ewing-like tumors (formalin-fixed, paraffin-embedded) previously determined as negative or non-informative for EWSR1-rearrangements by FISH and/or RT-PCR. A new histopathology revision and additional...
19 CitationsSource
#1Mikako Warren (SC: University of Southern California)H-Index: 11
#2Ryosuke Matsuno (SC: University of Southern California)H-Index: 3
Last. Hiroyuki Shimada (SC: University of Southern California)H-Index: 101
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Background This study evaluated the utility of Phox2b in pediatric tumors. Previously tyrosine hydroxylase (TH) was the most widely utilized sympathoadrenal marker specific for neural crest tumors with neuronal/neuroendocrine differentiation. However, its sensitivity is insufficient. Recently Phox2b has emerged as another specific marker for this entity. Methods Phox2b IHC was performed on 159 pediatric tumors including (1) 65 neural crest tumors with neuronal differentiation [peripheral neurobl...
11 CitationsSource
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