Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation
We report the case of a 7-month-old female patient who developed acute megakaryoblastic leukemia 6 months after the appearance of skull bone lesions. Initial evaluation and diagnosis of this patient were challenging and only achieved thanks to genomic analysis by NGS (next generation sequencing). It...
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| Format: | Article |
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Frontiers Media S.A.
2022-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.875510/full |
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| author | Miriam Gutiérrez-Jimeno Elena Panizo-Morgado Marta Calvo-Imirizaldu Víctor Galán-Gómez Adela Escudero-López Ana Patiño-García Ana Patiño-García |
| author_facet | Miriam Gutiérrez-Jimeno Elena Panizo-Morgado Marta Calvo-Imirizaldu Víctor Galán-Gómez Adela Escudero-López Ana Patiño-García Ana Patiño-García |
| author_sort | Miriam Gutiérrez-Jimeno |
| collection | DOAJ |
| description | We report the case of a 7-month-old female patient who developed acute megakaryoblastic leukemia 6 months after the appearance of skull bone lesions. Initial evaluation and diagnosis of this patient were challenging and only achieved thanks to genomic analysis by NGS (next generation sequencing). It is unusual for the initial manifestation of acute megakaryoblastic leukemia to be a skull bone lesion. Extramedullary acute myeloid leukemia (eAML), also known as myeloid sarcoma (MS), often occurs simultaneously with acute myeloid leukemia (AML), although it may precede AML. Genomic analysis based on a NGS panel (Oncomine Childhood Cancer Research Assay) detected a RBM15::MKL1 fusion, a consequence of a t (1;22)(p13;q13) translocation, establishing the diagnosis of acute megakaryoblastic leukemia and enabling disease follow-up by qPCR. A diagnosis of eAML is built up from various findings in radiological, histological, immunophenotypic and genomic studies; when the tumor appears de novo, diagnosis is more complicated. We emphasize the importance of a multidisciplinary team in the initial approach to rare tumors and the use of genomic studies to contribute to the knowledge of these neoplasms, risk stratification and treatment planning. |
| first_indexed | 2024-12-12T08:04:11Z |
| format | Article |
| id | doaj.art-ef6e9d2cbf174227b2930aa10574ebc8 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-12T08:04:11Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-ef6e9d2cbf174227b2930aa10574ebc82022-12-22T00:32:02ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-06-011010.3389/fped.2022.875510875510Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial ManifestationMiriam Gutiérrez-Jimeno0Elena Panizo-Morgado1Marta Calvo-Imirizaldu2Víctor Galán-Gómez3Adela Escudero-López4Ana Patiño-García5Ana Patiño-García6Department of Pediatrics, University Clinic of Navarra, Pamplona, SpainDepartment of Pediatrics, University Clinic of Navarra, Pamplona, SpainDivision of Neuroradiology, Department of Radiology, University Clinic of Navarra, Pamplona, SpainPediatric Hematology and Oncology Unit, Department of Pediatrics, La Paz University Hospital, Madrid, SpainPediatric Molecular Hemato-Oncology Section, Department of Genetics, Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital–IdiPAZ, Madrid, SpainDepartment of Pediatrics, University Clinic of Navarra, Pamplona, SpainSolid Tumor Program, CIMA, Center for Applied Medical Research and IdiSNA, Pamplona, SpainWe report the case of a 7-month-old female patient who developed acute megakaryoblastic leukemia 6 months after the appearance of skull bone lesions. Initial evaluation and diagnosis of this patient were challenging and only achieved thanks to genomic analysis by NGS (next generation sequencing). It is unusual for the initial manifestation of acute megakaryoblastic leukemia to be a skull bone lesion. Extramedullary acute myeloid leukemia (eAML), also known as myeloid sarcoma (MS), often occurs simultaneously with acute myeloid leukemia (AML), although it may precede AML. Genomic analysis based on a NGS panel (Oncomine Childhood Cancer Research Assay) detected a RBM15::MKL1 fusion, a consequence of a t (1;22)(p13;q13) translocation, establishing the diagnosis of acute megakaryoblastic leukemia and enabling disease follow-up by qPCR. A diagnosis of eAML is built up from various findings in radiological, histological, immunophenotypic and genomic studies; when the tumor appears de novo, diagnosis is more complicated. We emphasize the importance of a multidisciplinary team in the initial approach to rare tumors and the use of genomic studies to contribute to the knowledge of these neoplasms, risk stratification and treatment planning.https://www.frontiersin.org/articles/10.3389/fped.2022.875510/fullextramedullary acute myeloid leukemiamyeloid sarcomaacute megakaryoblastic leukemiagenomicsnext generation sequencing |
| spellingShingle | Miriam Gutiérrez-Jimeno Elena Panizo-Morgado Marta Calvo-Imirizaldu Víctor Galán-Gómez Adela Escudero-López Ana Patiño-García Ana Patiño-García Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation Frontiers in Pediatrics extramedullary acute myeloid leukemia myeloid sarcoma acute megakaryoblastic leukemia genomics next generation sequencing |
| title | Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation |
| title_full | Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation |
| title_fullStr | Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation |
| title_full_unstemmed | Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation |
| title_short | Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation |
| title_sort | case report the value of genomic analysis in a case of megakaryoblastic leukemia with atypical initial manifestation |
| topic | extramedullary acute myeloid leukemia myeloid sarcoma acute megakaryoblastic leukemia genomics next generation sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.875510/full |
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