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Erschienen in: Pediatric Surgery International 11/2022

15.09.2022 | Original Article

Differential expression profiling of onco and tumor-suppressor genes from major-signaling pathways in Wilms’ tumor

verfasst von: Dinesh Kumar Sahu, Neetu Singh, Mumani Das, Jiledar Rawat, Devendra Kumar Gupta

Erschienen in: Pediatric Surgery International | Ausgabe 11/2022

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Abstract

Purpose

Wilms’ tumor is the most-frequent malignant-kidney tumor in children under 3–4 years of age and is caused by genetic alterations of oncogenes (OG) and tumor-suppressor genes (TG). Wilms’ tumor has been linked to many OG-&-TG. However, only WT1 has a proven role in the development of this embryonic-tumor.

Methods

The study investigates the level of mRNA expression of 16 OGs and 20 TGs involved in key-signaling pathways, including chromatin modification; RAS; APC; Cell Cycle/Apoptosis; Transcriptional Regulation; PI3K; NOTCH-&-HH; PI3K & RAS of 24-fresh Wilms’-tumor cases by capture-and-reporter probe Code-Sets chemistry, as CNVs in these pathway genes have been reported.

Results

Upon extensively investigating, MEN1, MLL2, MLL3, PBRM1, PRDM1, SMARCB1, SETD2, WT1, PTPN11, KRAS, HRAS, NF1, APC, RB1, FUBP1, BCOR, U2AF1, PIK3CA, PTEN, EBXW7, SMO, ALK, CBL, EP300-and-GATA1 were found to be significantly up-regulated in 58.34, 62.5, 79.17, 91.67, 58, 66.66,54, 58.34, 66.67, 75, 62.5, 62.5, 58, 79.17, 79.17, 75, 70.84, 50, 50, 75, 66.66, 62.50, 61.66, 58.34-and-62.50% of cases respectively, whereas BRAF, NF2, CDH1, BCL2, FGFR3, ERBB2, MET, RET, EGFR-and-GATA2 were significantly down regulated in 58, 87.50, 79.16, 54.16, 79.17, 91.66, 66.66, 58.33, 91.66-and-62.50% of cases, respectively. Interestingly, the WT1 gene was five-fold down regulated in 41.66% of cases only.

Conclusion

Hence, extensive profiling of OGs and TGs association of major-signaling pathways in Wilms’ tumor cases may aid in disease diagnosis. PBRM1 (up-regulated in 91.67% of cases), ERBB2 and EGFR (down-regulated in 91.66 and 91.66% of cases, respectively) could be marker genes. However, validation of all relevant results in a larger number of samples is required.
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Metadaten
Titel
Differential expression profiling of onco and tumor-suppressor genes from major-signaling pathways in Wilms’ tumor
verfasst von
Dinesh Kumar Sahu
Neetu Singh
Mumani Das
Jiledar Rawat
Devendra Kumar Gupta
Publikationsdatum
15.09.2022
Verlag
Springer Berlin Heidelberg
Erschienen in
Pediatric Surgery International / Ausgabe 11/2022
Print ISSN: 0179-0358
Elektronische ISSN: 1437-9813
DOI
https://doi.org/10.1007/s00383-022-05202-2

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Pediatric Surgery International 11/2022 Zur Ausgabe

Mit dem Seitenschneider gegen das Reißverschluss-Malheur

03.06.2024 Urologische Notfallmedizin Nachrichten

Wer ihn je erlebt hat, wird ihn nicht vergessen: den Schmerz, den die beim Öffnen oder Schließen des Reißverschlusses am Hosenschlitz eingeklemmte Haut am Penis oder Skrotum verursacht. Eine neue Methode für rasche Abhilfe hat ein US-Team getestet.

Ähnliche Überlebensraten nach Reanimation während des Transports bzw. vor Ort

29.05.2024 Reanimation im Kindesalter Nachrichten

Laut einer Studie aus den USA und Kanada scheint es bei der Reanimation von Kindern außerhalb einer Klinik keinen Unterschied für das Überleben zu machen, ob die Wiederbelebungsmaßnahmen während des Transports in die Klinik stattfinden oder vor Ort ausgeführt werden. Jedoch gibt es dabei einige Einschränkungen und eine wichtige Ausnahme.

Alter der Mutter beeinflusst Risiko für kongenitale Anomalie

28.05.2024 Kinder- und Jugendgynäkologie Nachrichten

Welchen Einfluss das Alter ihrer Mutter auf das Risiko hat, dass Kinder mit nicht chromosomal bedingter Malformation zur Welt kommen, hat eine ungarische Studie untersucht. Sie zeigt: Nicht nur fortgeschrittenes Alter ist riskant.

Begünstigt Bettruhe der Mutter doch das fetale Wachstum?

Ob ungeborene Kinder, die kleiner als die meisten Gleichaltrigen sind, schneller wachsen, wenn die Mutter sich mehr ausruht, wird diskutiert. Die Ergebnisse einer US-Studie sprechen dafür.

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