Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations
Abstract We present the case of a 41-year-old man who developed worsening mid-thoracic back pain and imaging revealed a well-circumscribed intramedullary tumor in the thoracic spinal cord. Subtotal resection was performed, and histopathological analysis showed a cytologically bland, minimally prolif...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-04-01
|
| Series: | Acta Neuropathologica Communications |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40478-022-01340-9 |
| _version_ | 1818009855967887360 |
|---|---|
| author | Michael G. Argenziano Julia L. Furnari Michael L. Miller Yu Sun Matei A. Banu Justin A. Neira Matija Snuderl Jeffrey N. Bruce Mary Welch Paul McCormick Peter Canoll |
| author_facet | Michael G. Argenziano Julia L. Furnari Michael L. Miller Yu Sun Matei A. Banu Justin A. Neira Matija Snuderl Jeffrey N. Bruce Mary Welch Paul McCormick Peter Canoll |
| author_sort | Michael G. Argenziano |
| collection | DOAJ |
| description | Abstract We present the case of a 41-year-old man who developed worsening mid-thoracic back pain and imaging revealed a well-circumscribed intramedullary tumor in the thoracic spinal cord. Subtotal resection was performed, and histopathological analysis showed a cytologically bland, minimally proliferative glial neoplasm. Sequencing revealed H3 K27M and an activating PTPN11 mutation. Serial imaging revealed slow tumor regrowth over a three year period which prompted a second resection. The recurrent tumor displayed a similar low grade-appearing histology and harbored the same H3 K27M and PTPN11 mutations as the primary. While the prognostic importance of isolated H3 K27M in spinal gliomas is well-known, the combination of these two mutations in spinal low grade glioma has not been previously reported. Importantly, PTPN11 is a component of the MAPK signaling pathway. Thus, as building evidence shows that low grade-appearing gliomas harboring H3 K27M mutations along with BRAF or FGFR1 mutations have a relatively more favorable course compared to isolated H3 K27M-mutant midline gliomas, the present case provides new evidence for the prognostic importance of activating mutations in other components of the MAPK signaling pathway. This case further highlights the importance of clinico-radio-pathologic correlation when incorporating evolving genetic data into the integrated diagnosis of rare neuroepithelial tumors. |
| first_indexed | 2024-04-14T05:48:13Z |
| format | Article |
| id | doaj.art-0c25799048174155b51d0a19071a0280 |
| institution | Directory Open Access Journal |
| issn | 2051-5960 |
| language | English |
| last_indexed | 2024-04-14T05:48:13Z |
| publishDate | 2022-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Acta Neuropathologica Communications |
| spelling | doaj.art-0c25799048174155b51d0a19071a02802022-12-22T02:09:13ZengBMCActa Neuropathologica Communications2051-59602022-04-011011710.1186/s40478-022-01340-9Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutationsMichael G. Argenziano0Julia L. Furnari1Michael L. Miller2Yu Sun3Matei A. Banu4Justin A. Neira5Matija Snuderl6Jeffrey N. Bruce7Mary Welch8Paul McCormick9Peter Canoll10Department of Neurological Surgery, Columbia University Irving Medical CenterDepartment of Neurological Surgery, Columbia University Irving Medical CenterDepartment of Pathology and Cell Biology, Columbia University Irving Medical CenterDepartment of Pathology and Cell Biology, Columbia University Irving Medical CenterDepartment of Neurological Surgery, Columbia University Irving Medical CenterDepartment of Neurological Surgery, Columbia University Irving Medical CenterDepartment of Pathology, NYU Grossman School of MedicineDepartment of Neurological Surgery, Columbia University Irving Medical CenterDepartment of Neurology, Columbia University Irving Medical CenterDepartment of Neurological Surgery, Columbia University Irving Medical CenterDepartment of Pathology and Cell Biology, Columbia University Irving Medical CenterAbstract We present the case of a 41-year-old man who developed worsening mid-thoracic back pain and imaging revealed a well-circumscribed intramedullary tumor in the thoracic spinal cord. Subtotal resection was performed, and histopathological analysis showed a cytologically bland, minimally proliferative glial neoplasm. Sequencing revealed H3 K27M and an activating PTPN11 mutation. Serial imaging revealed slow tumor regrowth over a three year period which prompted a second resection. The recurrent tumor displayed a similar low grade-appearing histology and harbored the same H3 K27M and PTPN11 mutations as the primary. While the prognostic importance of isolated H3 K27M in spinal gliomas is well-known, the combination of these two mutations in spinal low grade glioma has not been previously reported. Importantly, PTPN11 is a component of the MAPK signaling pathway. Thus, as building evidence shows that low grade-appearing gliomas harboring H3 K27M mutations along with BRAF or FGFR1 mutations have a relatively more favorable course compared to isolated H3 K27M-mutant midline gliomas, the present case provides new evidence for the prognostic importance of activating mutations in other components of the MAPK signaling pathway. This case further highlights the importance of clinico-radio-pathologic correlation when incorporating evolving genetic data into the integrated diagnosis of rare neuroepithelial tumors.https://doi.org/10.1186/s40478-022-01340-9H3 K27MIntramedullary tumorLow grade gliomaPTPN11MAPK signaling pathway |
| spellingShingle | Michael G. Argenziano Julia L. Furnari Michael L. Miller Yu Sun Matei A. Banu Justin A. Neira Matija Snuderl Jeffrey N. Bruce Mary Welch Paul McCormick Peter Canoll Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations Acta Neuropathologica Communications H3 K27M Intramedullary tumor Low grade glioma PTPN11 MAPK signaling pathway |
| title | Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations |
| title_full | Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations |
| title_fullStr | Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations |
| title_full_unstemmed | Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations |
| title_short | Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations |
| title_sort | thoracic low grade glial neoplasm with concurrent h3 k27m and ptpn11 mutations |
| topic | H3 K27M Intramedullary tumor Low grade glioma PTPN11 MAPK signaling pathway |
| url | https://doi.org/10.1186/s40478-022-01340-9 |
| work_keys_str_mv | AT michaelgargenziano thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT julialfurnari thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT michaellmiller thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT yusun thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT mateiabanu thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT justinaneira thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT matijasnuderl thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT jeffreynbruce thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT marywelch thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT paulmccormick thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations AT petercanoll thoraciclowgradeglialneoplasmwithconcurrenth3k27mandptpn11mutations |