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Case report: value of gene expression profiling in the diagnosis of atypical neuroblastoma

Overview of attention for article published in BMC Research Notes, August 2017
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Title
Case report: value of gene expression profiling in the diagnosis of atypical neuroblastoma
Published in
BMC Research Notes, August 2017
DOI 10.1186/s13104-017-2724-4
Pubmed ID
Authors

Anne C. Harttrampf, Qingrong Chen, Eva Jüttner, Julia Geiger, Gordon Vansant, Javed Khan, Udo Kontny

Abstract

Nephroblastoma and neuroblastoma belong to the most common abdominal malignancies in childhood. Similarities in the initial presentation may provide difficulties in distinguishing between these two entities, especially if unusual variations to prevalent patterns of disease manifestation occur. Because of the risk of tumor rupture, European protocols do not require biopsy for diagnosis, which leads to misdiagnosis in some cases. We report on a 4½-year-old girl with a renal tumor displaying radiological and laboratory characteristics supporting the diagnosis of nephroblastoma. Imaging studies showed tumor extension into the inferior vena cava and bilateral lung metastases while urine catecholamines and MIBG-scintigraphy were negative. Preoperative chemotherapy with vincristine, actinomycine D and adriamycin according to the SIOP2001/GPOH protocol for the treatment of nephroblastoma was initiated and followed by surgical tumor resection. Histopathology revealed an undifferentiated tumor with expression of neuronal markers, suggestive of neuroblastoma. MYCN amplification could not be detected. DNA-microarray analysis was performed using Affymetrix genechip human genome U133 plus 2.0 and artificial neural network analysis. Results were confirmed by multiplex RT-PCR. Principal component analysis using 84 genes showed that the patient sample was clearly clustering with neuroblastoma tumors. This was confirmed by hierarchical clustering of the multiplex RT-PCR data. The patient underwent treatment for high-risk neuroblastoma comprising chemotherapy including cisplatin, etoposide, vindesine, dacarbacine, ifosfamide, vincristine, adriamycine and autologous stem cell transplantation followed by maintenance therapy with 13-cis retinoic acid (GPOH NB2004 High Risk Trial Protocol) and is in complete long-term remission. The use of gene expression profiling in an individual patient strongly contributed to clarification in a diagnostic dilemma which finally led to a change of diagnosis from nephroblastoma to neuroblastoma. This case underlines the importance of gene-expression profiling in the correct diagnosis of childhood neoplasms with atypical presentation to ensure that adequate treatment regimens can be applied.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 21%
Student > Master 4 21%
Student > Doctoral Student 2 11%
Researcher 2 11%
Other 1 5%
Other 3 16%
Unknown 3 16%
Readers by discipline Count As %
Medicine and Dentistry 7 37%
Biochemistry, Genetics and Molecular Biology 3 16%
Agricultural and Biological Sciences 2 11%
Computer Science 2 11%
Unknown 5 26%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 29 August 2017.
All research outputs
#9,332,876
of 11,674,646 outputs
Outputs from BMC Research Notes
#1,781
of 2,571 outputs
Outputs of similar age
#192,670
of 263,096 outputs
Outputs of similar age from BMC Research Notes
#36
of 46 outputs
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So far Altmetric has tracked 2,571 research outputs from this source. They receive a mean Attention Score of 4.5. This one is in the 17th percentile – i.e., 17% of its peers scored the same or lower than it.
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We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 10th percentile – i.e., 10% of its contemporaries scored the same or lower than it.