Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma
Primary leptomeningeal melanoma (PLMM) is a very rare disease in childhood with a poor prognosis. NRAS<sup>Q16K</sup> mutation frequently drives malignant transformation in this population, so its evaluation should be considered in childhood PLMM diagnosis. In the presented case, the mut...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/12/7/1609 |
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| author | Angela Mastronuzzi Francesco Fabozzi Martina Rinelli Rita De Vito Emanuele Agolini Giovanna Stefania Colafati Antonella Cacchione Andrea Carai Maria Antonietta De Ioris |
| author_facet | Angela Mastronuzzi Francesco Fabozzi Martina Rinelli Rita De Vito Emanuele Agolini Giovanna Stefania Colafati Antonella Cacchione Andrea Carai Maria Antonietta De Ioris |
| author_sort | Angela Mastronuzzi |
| collection | DOAJ |
| description | Primary leptomeningeal melanoma (PLMM) is a very rare disease in childhood with a poor prognosis. NRAS<sup>Q16K</sup> mutation frequently drives malignant transformation in this population, so its evaluation should be considered in childhood PLMM diagnosis. In the presented case, the mutation was detected by Sanger sequencing performed on DNA extracted from cerebrospinal fluid neoplastic cells. Liquid biopsy has been shown to be a safe and reliable technique for the diagnosis of PLMM. Its use can potentially be extended to other neoplasms of the central nervous system bearing well-defined molecular mutations, sparing the patient invasive surgery and finally allowing a more rapid diagnosis and early initiation of targeted therapies. |
| first_indexed | 2024-03-09T10:20:47Z |
| format | Article |
| id | doaj.art-e652affb9f244e08bce052c06061934d |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T10:20:47Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-e652affb9f244e08bce052c06061934d2023-12-01T22:03:27ZengMDPI AGDiagnostics2075-44182022-07-01127160910.3390/diagnostics12071609Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal MelanomaAngela Mastronuzzi0Francesco Fabozzi1Martina Rinelli2Rita De Vito3Emanuele Agolini4Giovanna Stefania Colafati5Antonella Cacchione6Andrea Carai7Maria Antonietta De Ioris8Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyLaboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Pathology, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyLaboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyImaging Department, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Neurological and Psychiatric Sciences, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyPrimary leptomeningeal melanoma (PLMM) is a very rare disease in childhood with a poor prognosis. NRAS<sup>Q16K</sup> mutation frequently drives malignant transformation in this population, so its evaluation should be considered in childhood PLMM diagnosis. In the presented case, the mutation was detected by Sanger sequencing performed on DNA extracted from cerebrospinal fluid neoplastic cells. Liquid biopsy has been shown to be a safe and reliable technique for the diagnosis of PLMM. Its use can potentially be extended to other neoplasms of the central nervous system bearing well-defined molecular mutations, sparing the patient invasive surgery and finally allowing a more rapid diagnosis and early initiation of targeted therapies.https://www.mdpi.com/2075-4418/12/7/1609leptomeningeal melanomachildrenliquid biopsyNRAS<sup>Q61K</sup> |
| spellingShingle | Angela Mastronuzzi Francesco Fabozzi Martina Rinelli Rita De Vito Emanuele Agolini Giovanna Stefania Colafati Antonella Cacchione Andrea Carai Maria Antonietta De Ioris Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma Diagnostics leptomeningeal melanoma children liquid biopsy NRAS<sup>Q61K</sup> |
| title | Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma |
| title_full | Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma |
| title_fullStr | Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma |
| title_full_unstemmed | Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma |
| title_short | Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma |
| title_sort | liquid biopsy with detection of nras sup q61k sup mutation in cerebrospinal fluid an alternative tool for the diagnosis of primary pediatric leptomeningeal melanoma |
| topic | leptomeningeal melanoma children liquid biopsy NRAS<sup>Q61K</sup> |
| url | https://www.mdpi.com/2075-4418/12/7/1609 |
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