Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm
The 2016 update of the WHO Classification of Tumours of the Central Nervous System has redefined a number of tumors. Embryonal tumor with multilayered rosettes, C19MC-altered is one such tumor entity which has been newly defined on the basis of a characteristic molecular alteration. We report, to ou...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2017-11-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X17745208 |
| _version_ | 1818870157282377728 |
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| author | Muhammad Usman Tariq Zubair Ahmad Muhammad Khurram Minhas Aisha Memon Noreen Mushtaq Cynthia Hawkins |
| author_facet | Muhammad Usman Tariq Zubair Ahmad Muhammad Khurram Minhas Aisha Memon Noreen Mushtaq Cynthia Hawkins |
| author_sort | Muhammad Usman Tariq |
| collection | DOAJ |
| description | The 2016 update of the WHO Classification of Tumours of the Central Nervous System has redefined a number of tumors. Embryonal tumor with multilayered rosettes, C19MC-altered is one such tumor entity which has been newly defined on the basis of a characteristic molecular alteration. We report, to our knowledge, the first case of this rare pediatric brain neoplasm in the Pakistani population. An 8-month-old girl was presented with vomiting and left-sided ptosis, and magnetic resonance imaging scan showed a cerebellar tumor. Histologically, a highly cellular population of primitive cells was seen alternating with hypocellular neuropil-rich regions containing multilayered true rosettes and cells with glial and neuronal differentiation. Amplification of 19q13. 42 chromosome region on fluorescence in situ hybridization analysis confirmed the diagnosis. Post-operative radiological examination revealed widespread central nervous system involvement. Adjuvant treatment was not offered due to complications. Patient expired a week after diagnosis. |
| first_indexed | 2024-12-19T12:02:33Z |
| format | Article |
| id | doaj.art-13f7571e9bd14d3bb5ee8e01eef6cd91 |
| institution | Directory Open Access Journal |
| issn | 2050-313X |
| language | English |
| last_indexed | 2024-12-19T12:02:33Z |
| publishDate | 2017-11-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj.art-13f7571e9bd14d3bb5ee8e01eef6cd912022-12-21T20:22:26ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2017-11-01510.1177/2050313X17745208Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasmMuhammad Usman Tariq0Zubair Ahmad1Muhammad Khurram Minhas2Aisha Memon3Noreen Mushtaq4Cynthia Hawkins5Section of Histopathology, Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, PakistanSection of Histopathology, Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, PakistanSection of Histopathology, Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, PakistanSection of Histopathology, Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, PakistanSection of Paediatric Oncology, Department of Oncology, The Aga Khan University, Karachi, PakistanDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children (Sickkids), Toronto, ON, CanadaThe 2016 update of the WHO Classification of Tumours of the Central Nervous System has redefined a number of tumors. Embryonal tumor with multilayered rosettes, C19MC-altered is one such tumor entity which has been newly defined on the basis of a characteristic molecular alteration. We report, to our knowledge, the first case of this rare pediatric brain neoplasm in the Pakistani population. An 8-month-old girl was presented with vomiting and left-sided ptosis, and magnetic resonance imaging scan showed a cerebellar tumor. Histologically, a highly cellular population of primitive cells was seen alternating with hypocellular neuropil-rich regions containing multilayered true rosettes and cells with glial and neuronal differentiation. Amplification of 19q13. 42 chromosome region on fluorescence in situ hybridization analysis confirmed the diagnosis. Post-operative radiological examination revealed widespread central nervous system involvement. Adjuvant treatment was not offered due to complications. Patient expired a week after diagnosis.https://doi.org/10.1177/2050313X17745208 |
| spellingShingle | Muhammad Usman Tariq Zubair Ahmad Muhammad Khurram Minhas Aisha Memon Noreen Mushtaq Cynthia Hawkins Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm SAGE Open Medical Case Reports |
| title | Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm |
| title_full | Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm |
| title_fullStr | Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm |
| title_full_unstemmed | Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm |
| title_short | Embryonal tumor with multilayered rosettes, C19MC-altered: Report of an extremely rare malignant pediatric central nervous system neoplasm |
| title_sort | embryonal tumor with multilayered rosettes c19mc altered report of an extremely rare malignant pediatric central nervous system neoplasm |
| url | https://doi.org/10.1177/2050313X17745208 |
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