Method Validation of Human Chorionic Gonadotropin and α-Fetoprotein in Cerebrospinal Fluid: Aiding the Diagnosis of Intracranial Germ Cell Tumors

Shajani-Yi, Zahra; Martin, Isabella W.; Brunelle, Abigail A.; Cervinski, Mark A.

doi:10.1373/jalm.2016.022822

Cited by 4 publications

(4 citation statements)

References 23 publications

(33 reference statements)

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“…Light’s criteria for the determination of transudative vs. exudative effusions rely on measurement of fluid total protein and/or lactate dehydrogenase [22] , and neither of these widely used tests are available as FDA-cleared methods. Likewise, tumor marker detection in body fluids (e.g., hCG or AFP in cerebrospinal fluid [23] ), most toxicology testing by definitive methods (e.g., toxic alcohols, drugs of abuse), and many endocrine tests (e.g., testosterone) are often performed via LDTs. A system in which clinical laboratories are compelled to submit their validation data for routinely available tests for FDA review would likely result in numerous submissions, potentially delaying approval for months or even years.…”

Section: Discussionmentioning

confidence: 99%

Impact of the loss of laboratory developed mass spectrometry testing at a major academic medical center

Geno¹,

Cervinski²

2023

Journal of Mass Spectrometry and Advances in the Clinical Lab

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Section: Discussionmentioning

confidence: 99%

Impact of the loss of laboratory developed mass spectrometry testing at a major academic medical center

Geno¹,

Cervinski²

2023

Journal of Mass Spectrometry and Advances in the Clinical Lab

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“…First, the sensitivity and speci city of these markers varies depending on anatomical involvement, subtype of tumor and progression of the disease, with markedly elevated concentrations occurring in less frequent subtypes of GCT [16]. Second, not all immunoassays have been validated for use in CSF [17]. Third, the cut-off values are not well established.…”

Section: Discussionmentioning

confidence: 99%

Changes in the epidemiological profile of pituitary stalk thickening among pediatric population in Chile during COVID-19 pandemic

Zepeda

Guarda

Okuma

et al. 2023

Preprint

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Purpose Pituitary stalk thickening (PST) is a rare disease affecting mainly adults. Pediatric cases are infrequent. The aim of this study is to evaluate the frequency of pediatric patients with PST during the pandemic outbreak of COVID-19 in Chile and compare it with previous data. Methods A retrospective chart review was conducted in patients with PST diagnosed during COVID-19 outbreak. Patients <18 years with pituitary stalk width of 3mm or more at pituitary insertion and/or 4mm or more at optic chiasm were included. In order to characterize and compare these cases with those already published, a review of the literature was performed. Results Nine patients were diagnosed with PST. Seven were girls. Mean age at the onset of symptoms was 10.36 years (2.4-17). Germinal cell tumors (GCT) were diagnosed in 8 patients and Langerhans cell histiocytosis in one. All patients had negative tumor markers, arginine-vasopressin deficiency (AVD) and at least one anterior pituitary hormonal deficit at diagnosis. Diagnoses were confirmed histologically in all patients, and four required a second biopsy. We found a frequency of 4 patients per year with PST due to GCT which is twice the one expected in the same population in Chile. Conclusion A surprisingly high frequency of PST presented during the COVID-19 pandemic among Chilean pediatric patients, being GCT the most frequent etiology. The reasons behind this increase in reported cases are still to be elucidated.

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“…Unfortunately, not all immunoassays for βhCG have been validated for use in CSF, which can make interpretation difficult. Validations of βhCG in CSF using the Roche Diagnostics Elecsys and Siemens Centaur assays have been published ( 6 , 7 ). Other assays may give no reference range or use serum reference intervals as a guide.…”

Section: Discussionmentioning

confidence: 99%

“…Ideally, it should also include patients with GCT and other pathologies, to calculate sensitivity and specificity, and a measure of stability and interfering factors. The Roche Diagnostics Elecsys assay for CSF βhCG is stable at any temperature for up to 7 days, and does not appear to be influenced by haemolysis or xanthrochromia; however, similar studies of stability were not performed on the Centaur assay ( 6 ). Neither study included sufficient patients with GCT to calculate specificity or sensitivity.…”

Section: Discussionmentioning

confidence: 99%

Difficulties in cerebrospinal fluid βhCG interpretation in a patient with an infundibular lesion

Jones

McNeil

Yates

et al. 2018

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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SummaryA variety of neoplastic, inflammatory and congenital conditions can cause pituitary stalk thickening. Differentiating between these causes is important as targeted treatment may be offered. Diagnostic work-up consists of a thorough history, examination, biochemical analysis and imaging. We present the case of a 33-year-old male who presented with diabetes insipidus and had pituitary stalk thickening on magnetic resonance imaging. Further investigations revealed an elevated CSF βhCG, which raised the possibility of an intracranial germ cell tumor. However, when repeated on four different assays, the βhCG levels were discordant. On serial imaging, the pituitary stalk thickening reduced slightly, which would be unexpected for a germ cell tumor. This case raises the difficulties interpreting CSF βhCG, as not all immunoassays for βhCG have been validated for use in CSF. The Roche Diagnostics Elecsys and Siemens Centaur assays have been validated for CSF βhCG, and so we advocate using one of these methods. If unavailable or serum/CSF results are ambiguous, serial MRI is appropriate, with pituitary stalk biopsy considered if the stalk measures >6.5 mm or other imaging abnormalities are present.Learning points:Most adult patients with central diabetes insipidus have imaging abnormalities on a pituitary MRI. The most common abnormalities are loss of the posterior pituitary bright spot and pituitary stalk thickening, both of which are non-specific.Causes of pituitary stalk thickening include neoplastic, inflammatory, infective and congenital lesions.Investigation of pituitary stalk thickening should encompass the many possible causes and include biochemical analyses as well as imaging of the chest, abdomen and pelvis. Further investigations should be guided by the clinical context, but may include testicular ultrasound, CSF analysis and pituitary stalk biopsy.Germ cell tumors involving the pituitary stalk may be suspected on clinical grounds, but in the absence of a tissue diagnosis (biopsy) confirmation may be difficult and relies on biochemical assessment of blood and possibly CSF as well as serial MRI imaging.CSF βhCG levels should be analyzed on an instrument validated for use in CSF or on multiple instruments, and the pitfalls of testing this marker (false negative in some germ cell tumors, false positives in other conditions, lack of internationally agreed reference ranges for diagnosing germ cell tumors) should be considered when interpreting the results.

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Method Validation of Human Chorionic Gonadotropin and α-Fetoprotein in Cerebrospinal Fluid: Aiding the Diagnosis of Intracranial Germ Cell Tumors

Abstract: Background: Our study objective was to validate 2 individual methods to measure α-fetoprotein (AFP) and human chorionic gonadotropin (hCG) in cerebrospinal fluid (CSF) on the Roche cobas

Cited by 4 publications

References 23 publications

Impact of the loss of laboratory developed mass spectrometry testing at a major academic medical center

Impact of the loss of laboratory developed mass spectrometry testing at a major academic medical center

Changes in the epidemiological profile of pituitary stalk thickening among pediatric population in Chile during COVID-19 pandemic

Difficulties in cerebrospinal fluid βhCG interpretation in a patient with an infundibular lesion

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