False positive results in a neuroblastoma screening programme

Bell, Susan Groag; Parker, Louise; Craft, Alan; Dale, Gordon; McGill, Andrew; Seviour, John; Cole, Michael; Smith, Julian C.

doi:10.1002/mpo.2950220306

Cited by 12 publications

(10 citation statements)

References 12 publications

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“…Alternatively, the medical issues present in many patients, including failure to thrive and hypertrophic cardiomyopathy (HCM), may cause a level of chronic physical stress that is reflected in increased sympathetic activation. This hypothesis is supported by the observation of Bell et al [1994] that seven of eight infants with a false positive urine screening test for neuroblastoma had a chronic disorder or illness. While three of the patients reported here (Patients 4, 7, and 8) are in good health without acute medical problems, they remain mostly or almost exclusively G-tube fed due to an inability to eat by mouth.…”

Section: Discussionmentioning

confidence: 81%

“…While the incidence of neuroblastoma in the Costello syndrome population is likely increased over the general population, the false positive rate for the screening test, using 2 standard deviations (SD) above the mean as the upper limit of normal, appears to be unusually high. It is noteworthy that the ''cut off'' value for a positive screening test may not necessarily be defined as mean þ2 SD, for example; a publication from a British group used mean þ3 SD as cut off for a positive screening test [Bell et al, 1994].…”

Section: Discussionmentioning

confidence: 99%

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Elevated catecholamine metabolites in patients with Costello syndrome

Gripp

Kawame

Viskochil

et al. 2004

American J of Med Genetics Pt A

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Costello syndrome is a rare congenital anomaly syndrome with a predisposition to specific tumors, including neuroblastoma, rhabdomyosarcoma, and transitional cell carcinoma of the bladder. The increased risk for solid tumors led to the proposal of a tumor screening protocol. A screening test for neuroblastoma consists of measuring catecholamine metabolites in urine, an assay that may also be used for diagnostic confirmation of a suspected catecholamine secreting tumor. We report eight patients with Costello syndrome with elevated catecholamine metabolites, vanillylmandelic acid (VMA) and/or homovanillic acid (HVA), in urine. Each patient had additional laboratory and/or imaging studies. None of the patients was found to have a neuroblastoma or another catecholamine secreting tumor. In two cases, the assays were performed because the patients were symptomatic with diaphoresis and hypertension, respectively, and in the other six cases the assays were performed in order to screen for neuroblastoma. The pathophysiology for the catecholamine metabolite abnormality in these patients with Costello syndrome remains unclear. However, it appears that in this patient group an elevation above the normal limit, defined as 2 standard deviations (SD) above the mean for age, is more likely to be a variant, rather than a sign of a neuroblastoma. Thus, it may be prudent not to use this assay as a screening test, and to take the frequently elevated results into consideration when interpreting diagnostic assays. © 2004 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Elevated catecholamine metabolites in patients with Costello syndrome

Gripp

Kawame

Viskochil

et al. 2004

American J of Med Genetics Pt A

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“…False positive results are occasionally found, and these often seem to occur in children with other chronic health disorders, such as severe eczema, muscular dystrophy and congestive cardiac failure 7. Most series report a positive result when the level is at least 1.5 times the upper limit of normal and results which are much higher than the age-related upper limit of normal are increasingly likely to represent true positives.…”

Section: Clinical Questionsmentioning

confidence: 99%

Urine catecholamines in paediatrics

Erdélyi

Elliott

Phillips

2011

Archives of Disease in Childhood - Education and Practice

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“…Multiple serum and urine markers have been studied in neuroblastoma including serum ferritin, tyrosine hydroxylase, neuron specific enolase, lactate dehydrogenase (LDH), and urine catecholamines (7). The majority of these markers is nonspecific and can be found in other oncologic and non-oncologic disease states, such as prematurity, sepsis, and stress (8, 9). …”

Section: Introductionmentioning

confidence: 99%

Neuroblastoma-derived secretory protein is a novel secreted factor overexpressed in neuroblastoma

Vasudevan

Shang²,

Chang³

et al. 2009

Molecular Cancer Therapeutics

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Secreted proteins such as growth factors, cytokines and chemokines play important roles in tumor development. Through expression microarray and bioinformatic analysis, we discovered a novel secreted protein, neuroblastoma derived secretory protein (NDSP). The NDSP gene is found on chromosome 1q25.2 and encodes a 167 amino acid protein with a putative signal peptide. Using real-time PCR and immunoblotting we find that NDSP is specifically overexpressed in neuroblastoma at much higher levels than other adult and pediatric malignancies and normal tissues. NDSP is an 18 kDa protein that can be secreted by NDSP-transfected HEK-293T cells, as well as, neuroblastoma cell lines endogenously expressing NDSP. Inhibiting NDSP expression in neuroblastoma cell lines with retrovirally transduced NDSP small hairpin interfering RNA (shRNA), sh-NDSP, results in decreased cellular proliferation and colony formation. We also find inhibited ERK1/2 phosphorylation in the sh-NDSP cell line. Treating the parental cell line with MEK1/2 inhibitors which diminish ERK1/2 phosphorylation results in decreased cell proliferation. Culturing these transduced cells with recombinant NDSP, reintroducing NDSP overexpression in the knockdown cell line, or inducing Ras oncogene overexpression for constitutive ERK1/2 activation results in a reversal of the growth inhibited phenotype and proliferation rates similar to the control cells. In addition, reintroduction of NDSP overexpression in the sh-NDSP cell line results in ERK1/2 phosphorylation similar to control. We conclude that NDSP is specifically overexpressed in neuroblastoma and actively secreted from tumor cells. Furthermore, NDSP serves as a growth factor for neuroblastoma tumor cells through activation of the ERK-mediated proliferation pathway.

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False positive results in a neuroblastoma screening programme

Cited by 12 publications

References 12 publications

Elevated catecholamine metabolites in patients with Costello syndrome

Elevated catecholamine metabolites in patients with Costello syndrome

Urine catecholamines in paediatrics

Neuroblastoma-derived secretory protein is a novel secreted factor overexpressed in neuroblastoma

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