Bibliographic Details
| Title: |
Contribución a la docencia de la patología molecular y la neuroimagen. Astrocitoma medular. |
| Alternate Title: |
Contribution to the knowledge of molecular pathology and neuroimaging. Spinal astrocytoma. |
| Authors: |
Georgescu, Maria Magdalena1, González-Toledo, Eduardo2 ecgtoledo@gmail.com |
| Source: |
Revista Argentina de Radiología. 2026, Vol. 90 Issue 1, p32-38. 7p. |
| Abstract (English): |
We present the case of a 62-year-old female patient with past medical history of breast cancer, presenting for generalized weakness, and whose multiparametric magnetic resonance imaging (MRI), including sagittal T1WI, T2WI, STIR and FAT SAT in axial and sagittal planes before and after contrast gadolinium administration, revealed a rim-enhancing, intradural and intramedullary mass in the cervical spinal cord. Histopathological analysis showed a high-grade glioblastoma-like diffuse glioma with very high Ki-67 proliferation index. Molecular analysis identified histone H3F3A p.K27M mutation, allowing a diagnosis of diffuse midline glioma, histone H3 K27M mutant, WHO grade 4. This is an aggressive diffuse glioma, very rare in older adults, and the survival of this patient was dismal. An additional PPM1D p.W427* was detected, and this mutation might have predisposed to both malignancies in this patient, underscoring the importance of molecular testing. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): |
Presentamos el caso de una paciente de 62 años con antecedentes de cáncer de mama, quien consultó por debilidad generalizada. Su resonancia magnética (RM) multiparamétrica, que incluyó imágenes sagital T1WI, T2WI, STIR y FAT SAT en los planos axial y sagital antes y después de la administración de gadolinio como contraste, reveló una masa intradural e intramedular con realce en el borde en la médula espinal cervical. El análisis histopatológico mostró un glioma difuso similar a un glioblastoma de alto grado con un índice de proliferación Ki-67 muy alto. El análisis molecular identificó la mutación p.K27M de la histona H3F3A, lo que permitió el diagnóstico de glioma difuso de línea media, mutante de la histona H3 K27M, grado 4 de la OMS. Se trata de un glioma difuso agresivo, muy poco frecuente en adultos mayores, y la supervivencia de esta paciente fue desalentadora. Se detectó una mutación adicional PPM1D p.W427*, que podría haber predispuesto a ambas neoplasias malignas en esta paciente, lo que subraya la importancia de las pruebas moleculares. [ABSTRACT FROM AUTHOR] |
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| Database: |
MedicLatina |
