MicroRNA-profiling of miR-371~373- and miR-302/367-clusters in serum and cerebrospinal fluid identify patients with intracranial germ cell tumors

Schönberger, Stefan; Mohseni, Masood; Ellinger, Jörg; Tran, Giao Vu Quynh; Becker, Martina; Claviez, Alexander; Classen, CF; Hermes, Bárbara; Driever, Pablo Hernáiz; Jorch, Norbert; Lauten, Melchior; Mehlitz, Marcus; Schäfer, Niklas; Scheer-Preiss, Johanna; Schneider, Dominik; Troeger, Anja; Calaminus, Gabriele; Dilloo, Dagmar

doi:10.1007/s00432-022-03915-4

Cited by 13 publications

(9 citation statements)

References 33 publications

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“…In our samples, we were unable to detect the previously documented miR-371 ~ 373 and miR-302/367 clusters (Murray et al 2016). This is in contrast to a recent study by Schönberger et al, where they demonstrated the suitability of miR-371a, miR-372, miR-367 and miR-302d in serum and CSF for diagnosis of CNS GCT, particularly in biomarker-negative pure germinoma (Schönberger et al 2022). This discrepancy can be attributed to the difference in methodology between the two studies.…”

Section: Discussioncontrasting

confidence: 99%

“…Moreover, in a global miRNA expression analysis of 12 tumor specimens from primary pediatric GCT of the brain, pure germinoma-speci c upregulation of miR-142-5p and miR-146a-5p was reported, in contrast to overexpression of miR-335-5p and miR-654-3p in NGGCT (Wang HW et al 2010). Yet, it is still unknown whether detection of these miRNAs are discriminatory in the serum/plasma of pediatric CNS germinoma patients (Schönberger et al 2022). We sought to identify plasma signatures that could distinguish pure germinomas of the pineal region from all other tumors in this area, thus potentially avoiding the need for surgical intervention in this very vulnerable part of the brain.…”

Section: Introductionmentioning

confidence: 99%

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miRNA Expression Profile in Pediatric Pineal Pure Germinomas

Fakhry

El‐Ayadi

Elzayat

et al. 2022

Preprint

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Purpose Pure germinomas account for 40% of pineal tumors and are characterized by the lack of appreciable tumor markers, thus requiring a tumor biopsy for diagnosis. MicroRNAs (miRNA) have emerged as potential non-invasive biomarkers for germ cell tumors and may facilitate the non-invasive diagnosis of pure pineal germinomas. Methods A retrospective chart review was performed of all patients treated at Children’s Cancer Hospital Egypt diagnosed with a pineal region tumor between June 2013 and March 2021 for whom a research blood sample was available. Plasma samples were profiled for miRNA expression and DESeq2 was used to compare between pure germinoma and other tumor types. Differentially expressed miRNAs were identified. The area under the curve of the receiver operating characteristic curve was constructed to evaluate diagnostic performance. Results Samples from 39 pediatric patients were available including 12 pure germinomas and 27 pineal region tumors of other pathologies, including pineal origin tumors [n = 17; pineoblastoma (n = 13), and pineal parenchymal tumors of intermediate differentiation (n = 4)], and others [n = 10; low grade glioma (n = 6) and atypical teratoid rhabdoid tumor (n = 4)]. Using an adjusted p value < 0.05, three miRNAs showed differential expression (miR-143-3p, miR-320c, miR-320d; adjusted p = 0.0058, p = 0.0478 and p = 0.0366, respectively), and good discriminatory power between the two groups (AUC 90.7%, p < 0.001) with a sensitivity of 25% and a specificity of 100%. Conclusion Our results demonstrated the potential of a three-plasma miRNA signature to non-invasively identify pineal body pure germinomas which may allow selected patients to avoid the potential surgical complications.

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Section: Discussioncontrasting

confidence: 99%

Section: Introductionmentioning

confidence: 99%

miRNA Expression Profile in Pediatric Pineal Pure Germinomas

Fakhry

El‐Ayadi

Elzayat

et al. 2022

Preprint

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“…Within the scope of this study, we have not been able to incorporate novel biomarkers for CNS GCTs, such as CSF and serum microRNAs. Specific microRNA species allow differentiation between patients with and without CNS GCTs [48]. MicroRNA profiling may represent a powerful platform as serial monitoring allows the tracking of treatment responses.…”

Section: Discussionmentioning

confidence: 99%

Incidence and Predictors for Oncologic Etiologies in Chinese Children with Pituitary Stalk Thickening

Li¹,

Poon

Cheung³

et al. 2023

Cancers

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Background: With the increasing use of magnetic resonance imaging (MRI) in the evaluation of children with endocrine disorders, pituitary stalk thickening (PST) poses a clinical conundrum due to the potential for underlying neoplasms and challenges in obtaining a tissue biopsy. The existing literature suggests Langerhans cell histiocytosis (LCH) to be the commonest (16%) oncologic cause for PST, followed by germ cell tumors (GCTs, 13%) (CCLG 2021). As the cancer epidemiology varies according to ethnicity, we present herein the incidence and predictors for oncologic etiologies in Hong Kong Chinese children with PST. Methods: Based on a territory-wide electronic database, we reviewed patients aged < 19 years who presented to three referral centers with endocrinopathies between 2010 and 2022. Records for patients who underwent at least one MRI brain/pituitary were examined (n = 1670): those with PST (stalk thickness ≥ 3 mm) were included, while patients with pre-existing cancer, other CNS and extra-CNS disease foci that were diagnostic of the underlying condition were excluded. Results: Twenty-eight patients (M:F = 10:18) were identified. The median age at diagnosis of PST was 10.9 years (range: 3.8–16.5), with central diabetes insipidus (CDI) and growth hormone deficiency (GHD) being the most frequent presenting endocrine disorders. At a median follow-up of 4.8 years, oncologic diagnoses were made in 14 patients (50%), including 13 GCTs (46%; germinoma = 11, non-germinoma = 2) and one LCH (4%). Among patients with GCTs, 10 were diagnosed based on histology, two by abnormal tumor markers and one by a combination of histology and tumor markers. Three patients with germinoma were initially misdiagnosed as hypophysitis/LCH. The cumulative incidence of oncologic diagnoses was significantly higher in boys and patients with PST at presentation ≥6.5 mm, CDI or ≥2 pituitary hormone deficiencies at presentation and evolving hypopituitarism (all p < 0.05 by log-rank). Conclusions: A higher rate of GCTs was observed in Chinese children with endocrinopathy and isolated PST. The predictors identified in this study may guide healthcare providers in Asia in clinical decision making. Serial measurement of tumor markers is essential in management.

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“…Moreover, in a global miRNA expression analysis of 12 tumor specimens from primary pediatric GCT of the brain, pure germinoma-specific upregulation of miR-142-5p and miR-146a-5p was reported, in contrast to overexpression of miR-335-5p and miR-654-3p in NGGCT ( 4 ). Yet, it is still unknown whether the detection of these miRNAs is discriminatory in the serum/plasma of pediatric CNS germinoma patients ( 21 ). We sought to identify plasma signatures that could distinguish pure germinomas of the pineal region from all other tumors in this area, thus potentially avoiding the need for surgical intervention in this very vulnerable part of the brain.…”

Section: Introductionmentioning

confidence: 99%

Plasma miRNA expression profile in pediatric pineal pure germinomas

Fakhry,

Elayadi,

Elzayat

et al. 2024

Front. Oncol.

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BackgroundPure germinomas account for 40% of pineal tumors and are characterized by the lack of appreciable tumor markers, thus requiring a tumor biopsy for diagnosis. MicroRNAs (miRNA) have emerged as potential non-invasive biomarkers for germ cell tumors and may facilitate the non-invasive diagnosis of pure pineal germinomas.Material and methodsA retrospective chart review was performed on all patients treated at the Children’s Cancer Hospital Egypt diagnosed with a pineal region tumor between June 2013 and March 2021 for whom a research blood sample was available. Plasma samples were profiled for miRNA expression, and DESeq2 was used to compare between pure germinoma and other tumor types. Differentially expressed miRNAs were identified. The area under the curve of the receive;r operating characteristic curve was constructed to evaluate diagnostic performance.ResultsSamples from 39 pediatric patients were available consisting of 12 pure germinomas and 27 pineal region tumors of other pathologies, including pineal origin tumors [n = 17; pineoblastoma (n = 13) and pineal parenchymal tumors of intermediate differentiation (n = 4)] and others [n = 10; low-grade glioma (n = 6) and atypical teratoid rhabdoid tumor (n = 4)]. Using an adjusted p-value <0.05, three miRNAs showed differential expression (miR-143-3p, miR-320c, miR-320d; adjusted p = 0.0058, p = 0.0478, and p = 0.0366, respectively) and good discriminatory power between the two groups (AUC 90.7%, p < 0.001) with a sensitivity of 25% and a specificity of 100%.ConclusionOur results suggest that a three-plasma miRNA signature has the potential to non-invasively identify pineal body pure germinomas which may allow selected patients to avoid the potential surgical complications.

show abstract

MicroRNA-profiling of miR-371~373- and miR-302/367-clusters in serum and cerebrospinal fluid identify patients with intracranial germ cell tumors

Cited by 13 publications

References 33 publications

miRNA Expression Profile in Pediatric Pineal Pure Germinomas

miRNA Expression Profile in Pediatric Pineal Pure Germinomas

Incidence and Predictors for Oncologic Etiologies in Chinese Children with Pituitary Stalk Thickening

Plasma miRNA expression profile in pediatric pineal pure germinomas

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