MN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient. (Record no. 12841)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04466nam a22006857a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 230316s20232023 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0256-7040 |
| 024 ## - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00381-022-05795-y [doi] |
| 024 ## - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00381-022-05795-y [pii] |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| PMID | 36648513 |
| 245 ## - TITLE STATEMENT | |
| Title | MN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient. |
| 247 ## - FORMER TITLE | |
| Title | MN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient. |
| 251 ## - Source | |
| Source | Childs Nervous System. 39(5):1309-1315, 2023 05. |
| 252 ## - Abbreviated Source | |
| Abbreviated source | Childs Nerv Syst. 39(5):1309-1315, 2023 05. |
| 253 ## - Journal Name | |
| Journal name | Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Manufacturer | FY2023 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Year | 2023 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Publication date | 2023 05 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] | |
| Publication status | ppublish |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] | |
| Medline status | MEDLINE |
| 266 ## - Date added to catalog | |
| Date updated in catalog | 2023-07-03 |
| 267 ## - Original year | |
| Original year | 2023 |
| 268 ## - Previous citation | |
| -- | Childs Nervous System. 2023 Jan 17 |
| 269 ## - Original dates | |
| -- | Childs Nerv Syst. 2023 Jan 17 |
| 269 ## - Original dates | |
| Original fiscal year | FY2023 |
| 269 ## - Original dates | |
| -- | 2023 Jan 17 |
| 269 ## - Original dates | |
| -- | aheadofprint |
| 269 ## - Original dates | |
| -- | Publisher |
| 520 ## - SUMMARY, ETC. | |
| Abstract | CONCLUSION: Our case represents the first report of an infant with an MN1 astroblastoma with APC and LRP1B gene alterations in the cervical spine. Gross total resection paired with a detailed histopathologic analysis is vital for optimizing adjuvant treatment. Copyright � 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. |
| 520 ## - SUMMARY, ETC. | |
| Abstract | METHODS: A retrospective review of electronic medical records was performed with an emphasis on neuroimaging, perioperative course, and pathological analysis. |
| 520 ## - SUMMARY, ETC. | |
| Abstract | PURPOSE: Astroblastomas (AB) are high-grade neoplasms which typically occur within the cerebral hemisphere. However, given the rarity of this neoplasm and the number of variants, the relevance of this molecular makeup is unknown. We sought to describe the clinical presentation, treatment, and pathological analysis of a novel MN1 (meningioma 1) cervical spinal cord astroblastoma variant presenting in a pediatric patient. |
| 520 ## - SUMMARY, ETC. | |
| Abstract | RESULTS: An 11-month-old male with no significant history presented with two weeks of neck stiffness and cervicalgia. Neurologically, the patient was intact without signs of infection or trauma. Cervical CT was unremarkable. A subsequent MRI demonstrated a heterogeneously enhancing intramedullary lesion extending from the craniocervical junction to T4. The patient was treated with perioperative steroids and underwent C1-C3 laminectomies and C4-T4 laminotomies for tumor resection. Upon completion of the durotomy, an exophytic gray-red tumor was appreciated within the epidural space and gross total resection was achieved (no change on intraoperative neurophysiological monitoring) and confirmed on post-operative imaging. Immunohistochemical analysis was consistent with an astroblastoma with atypical diffuse positivity of CD56, CD99, and nuclear OLIG2. Molecular analysis revealed not only MN1 alterations but also changes in genes encoding APC and LRP1B. Both alterations were not previously documented to be associated with an astroblastoma. |
| 546 ## - LANGUAGE NOTE | |
| Language note | English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | *Brain Neoplasms |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | *Neoplasms, Neuroepithelial |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Neoplasms/su [Surgery] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cervical Vertebrae/dg [Diagnostic Imaging] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cervical Vertebrae/pa [Pathology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cervical Vertebrae/su [Surgery] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neoplasms, Neuroepithelial/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuroimaging |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, LDL/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trans-Activators/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tumor Suppressor Proteins/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Indexing | Curated |
| 656 ## - INDEX TERM--OCCUPATION | |
| Department | MedStar Georgetown University Hospital/MedStar Washington Hospital Center |
| 656 ## - INDEX TERM--OCCUPATION | |
| Department | Neurosurgery Residency |
| 657 ## - INDEX TERM--FUNCTION | |
| Medline publication type | Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Local Authors | Keating, Gregory |
| Institution Code | MGUH |
| Program | Neurosurgery Residency |
| Degree | MD |
| Resident year | Resident PGY 3 |
| 790 ## - Authors | |
| All authors | Mugge L |
| -- | Dang DD |
| -- | Stabingas K |
| -- | Keating G |
| -- | Rossi C |
| -- | Keating R |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| DOI | <a href="https://dx.doi.org/10.1007/s00381-022-05795-y">https://dx.doi.org/10.1007/s00381-022-05795-y</a> |
| Public note | https://dx.doi.org/10.1007/s00381-022-05795-y |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Journal Article |
| Item type description | Journal Article |
No items available.