Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis

Smith, Miriam J.; Esparza, Sonia; Merker, Vanessa L.; Muzikansky, Alona; Bredella, Miriam A.; Harris, Gordon J.; Kassarjian, Ara; Cai, Wenli; Walker, James A.; Mautner, Victor; Plotkin, Scott R.

doi:10.1016/j.clinbiochem.2012.12.007

Cited by 5 publications

(13 citation statements)

References 11 publications

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“…Individuals in this study were followed in a national NF clinic and were not selected for inclusion because of suspicion of internal tumors. Measurable internal tumors occurred in a little more than half (55%) of the study population, which is consistent with other whole‐body MRI studies in our NF1 clinic population and others [Mautner et al, ; Kluwe et al, ; Nguyen et al, ; Plotkin et al, ; Smith et al, ].…”

Section: Discussionsupporting

confidence: 91%

“…A single set of whole body and cranial images on each patient was selected on the basis of scan quality for use in the present analysis. Some of the patients included in this study were also included in previous whole body MRI studies reported by our group that involved different analyses [Mautner et al, ; Kluwe et al, ; Nguyen et al, ; Plotkin et al, ; Smith et al, ]. Patients with NF1 megabase deletions were excluded from the current study because this subset of patients is known to have a higher tumor burden than patients with NF1 whose mutation is not a large deletion [Kehrer‐Sawatzki et al, ].…”

Section: Methodsmentioning

confidence: 99%

“…The most prevalent clinical manifestations are café‐au‐lait spots, iris Lisch nodules, axillary and inguinal freckling, learning difficulties, and neurofibromas [Friedman and Birch, 1997]. About half of NF1 patients have internal plexiform neurofibromas [Mautner et al, ; Kluwe et al, ; Nguyen et al, ; Plotkin et al, ; Smith et al, ], but most of these tumors are not apparent on physical examination [Tucker et al, ]. Although benign, internal plexiform tumors may be painful or cause neurological, obstructive, vascular, respiratory, skeletal, or growth abnormalities [Korf, ; Mautner et al, ].…”

Section: Introductionmentioning

confidence: 99%

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Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1

Jett

Nguyen

Arman

et al. 2015

American J of Med Genetics Pt A

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Internal plexiform neurofibromas are a major cause of adverse outcomes in patients with neurofibromatosis 1 (NF1). We investigated the relationship of the numbers of subcutaneous neurofibromas of the scalp or body to internal plexiform tumor volume in 120 NF1 patients who had undergone whole body magnetic resonance imaging (MRI). We identified internal plexiform neurofibromas in 55% of patients, subcutaneous neurofibromas of the body in 75%, and subcutaneous neurofibromas of the scalp in 45%. The number of subcutaneous neurofibromas of the body and scalp were associated with each other (Spearman's Rho = 0.36; P < 0.001). The presence of internal tumors was associated with the presence (odds ratio [OR] = 4.38, 95% confidence interval [CI] 2.04-9.86, P < 0.001) and number (OR = 1.06 per neurofibroma, 95% CI 1.02-1.13, P < 0.001) of subcutaneous neurofibromas of the scalp. The total internal tumor volume was associated with the number of subcutaneous neurofibromas of the body (OR = 1.00086 per neurofibroma, 1.000089-1.0016, P = 0.029) and of the scalp (OR = 1.056 per neurofibroma, 1.029-1.083, P < 0.0001). Numbers of subcutaneous neurofibromas of the scalp and body are associated with internal plexiform tumor burden in NF1. Recognition of these associations may improve clinical management by helping to identify patients who will benefit most from whole body MRI and more intense clinical surveillance.

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Section: Discussionsupporting

confidence: 91%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1

Jett

Nguyen

Arman

et al. 2015

American J of Med Genetics Pt A

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“…Whole-body MRI is widely used in NF1 to define a subpopulation with internal tumor burden, to further characterize PNSTs and to provide a means for follow-up examinations to identify growing lesions [ 19 – 22 ]. Assessment of whole-body internal tumor burden using segmentation techniques for T2-weighted whole-body MRI sequences has been investigated in several studies [ 20 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

“…The internal tumor burden in individuals with NF1 has been studied using T2-weighted whole-body MRI segmentation techniques [ 19 , 20 ]. High internal tumor load on MRI has been found to be associated with a higher risk of developing MPNSTs in previous studies [ 21 ], but not with genetic alterations or serum markers [ 1 , 22 ]. It is an inherent limitation of MRI that it cannot discriminate between tumors which are metabolically active and those who are not [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Nerve Sheath Tumors in Neurofibromatosis Type 1: Assessment of Whole-Body Metabolic Tumor Burden Using F-18-FDG PET/CT

Salamon

Papp²,

Tóth³

et al. 2015

PLoS ONE

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PurposeTo determine the metabolically active whole-body tumor volume (WB-MTV) on F-18-fluorodeoxyglucose positron emission tomography/computed tomography (F-18-FDG PET/CT) in individuals with neurofibromatosis type 1 (NF1) using a three-dimensional (3D) segmentation and computerized volumetry technique, and to compare PET WB-MTV between patients with benign and malignant peripheral nerve sheath tumors (PNSTs).Patients and MethodsThirty-six NF1 patients (18 patients with malignant PNSTs and 18 age- and sex-matched controls with benign PNSTs) were examined by F-18-FDG PET/CT. WB-MTV, whole-body total lesion glycolysis (WB-TLG) and a set of semi-quantitative imaging-based parameters were analyzed both on a per-patient and a per-lesion basis.ResultsOn a per-lesion basis, malignant PNSTs demonstrated both a significantly higher MTV and TLG than benign PNSTs (p < 0.0001). On a per-patient basis, WB-MTV and WB-TLG were significantly higher in patients with malignant PNSTs compared to patients with benign PNSTs (p < 0.001). ROC analysis showed that MTV and TLG could be used to differentiate between benign and malignant tumors.ConclusionsWB-MTV and WB-TLG may identify malignant change and may have the potential to provide a basis for investigating molecular biomarkers that correlate with metabolically active disease manifestations. Further evaluation will determine the potential clinical impact of these PET-based parameters in NF1.

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Identification of Immune-Related Candidate Biomarkers in Plasma of Patients with Sporadic Vestibular Schwannoma

Vasilijić

Atai

Hyakusoku

et al. 2023

Preprint

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Vestibular schwannoma (VS) is intracranial tumor arising from neoplastic Schwann cells, causing hearing loss in about 95% of patients. The traditional belief that hearing deficit is caused by physical expansion of the VS, compressing the auditory nerve, does not explain the common clinical finding that patients with small tumors can have profound hearing loss, suggesting that tumor-secreted factors could influence hearing ability in VS patients. Here, we conducted profiling of patients plasma for 67 immune-related factors on a large cohort of VS patients (N>120) and identified candidate biomarkers associated with tumor growth (IL-16 and S100B) and hearing (MDC). We identified the 7-biomarker panel composed of MCP-3, BLC, S100B, FGF-2, MMP-14, eotaxin, and TWEAK that showed outstanding discriminatory ability for VS. These findings revealed possible therapeutic targets for VS-induced hearing loss and provided a unique diagnostic tool that may predict hearing change and tumor growth in VS patients and may help inform the ideal timing of tumor resection to preserve hearing.

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Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis

Cited by 5 publications

References 11 publications

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1

Nerve Sheath Tumors in Neurofibromatosis Type 1: Assessment of Whole-Body Metabolic Tumor Burden Using F-18-FDG PET/CT

Identification of Immune-Related Candidate Biomarkers in Plasma of Patients with Sporadic Vestibular Schwannoma

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