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Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma.

Hochart A, Escande F, Rocourt N, Grill J, Koubi-Pick V, Beaujot J, Meignan S, Vinchon M, Maurage CA, Leblond P - Ann Clin Transl Neurol (2015)

Bottom Line: We report the first case of a child with a H3F3A K27M mutated pilocytic astrocytoma, who presented with a 10 years survival, and underwent spontaneous malignant transformation.H3F3A K27M mutations are rarely observed in benign neoplasms and may be associated with an adverse outcome.This mutation might not be the major driver that led to the onset of tumorigenesis, and we could consider that the associated TP53 mutation, would be required for malignant transformation.

View Article: PubMed Central - PubMed

Affiliation: Pediatric Oncology Unit, Oscar Lambret Center Lille, France.

ABSTRACT
We report the first case of a child with a H3F3A K27M mutated pilocytic astrocytoma, who presented with a 10 years survival, and underwent spontaneous malignant transformation. The complex tumoral chromosomal rearrangements were consistent for genomic instability and for the histopathological features of malignant transformation into glioblastoma. H3F3A K27M mutations are rarely observed in benign neoplasms and may be associated with an adverse outcome. This mutation might not be the major driver that led to the onset of tumorigenesis, and we could consider that the associated TP53 mutation, would be required for malignant transformation.

No MeSH data available.


Related in: MedlinePlus

MRI from the first tumor in 2002 (left column) and the recurrence in 2012 (right column). (A) Initial MR Imaging at diagnosis in November 2002, sagittal postcontrast T1 spin echo weight imaging (TR: 400; TE: 16) showing a heterogeneous tumor of the cervical spinal cord from level C2, down to C6, with solid and cystic tumor parts and with marked contrast enhancement. (B) Three years postsurgery treatment, sagittal MRI postcontrast T1 weight imaging (TR: 463; TE: 10): no recurrence. (C) Ten years after surgery treatment, postcontrast sagittal T1 weight imaging (TR: 470; TE: 8.6) showing a relapse as a spinal expansion from the cranio-cervical junction to level T1, with heterogeneous enhancement. (D) Ten years after surgery treatment, sagittal T2 weight imaging (TR: 3405; TE: 122) showing relapse with a hyperintense signal down to level T4.
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fig01: MRI from the first tumor in 2002 (left column) and the recurrence in 2012 (right column). (A) Initial MR Imaging at diagnosis in November 2002, sagittal postcontrast T1 spin echo weight imaging (TR: 400; TE: 16) showing a heterogeneous tumor of the cervical spinal cord from level C2, down to C6, with solid and cystic tumor parts and with marked contrast enhancement. (B) Three years postsurgery treatment, sagittal MRI postcontrast T1 weight imaging (TR: 463; TE: 10): no recurrence. (C) Ten years after surgery treatment, postcontrast sagittal T1 weight imaging (TR: 470; TE: 8.6) showing a relapse as a spinal expansion from the cranio-cervical junction to level T1, with heterogeneous enhancement. (D) Ten years after surgery treatment, sagittal T2 weight imaging (TR: 3405; TE: 122) showing relapse with a hyperintense signal down to level T4.

Mentions: A 7-year-old girl with no familial history of neurofibromatosis presented with torticollis and left hemiparesia in 2002. Sagittal T1 MRI revealed a well-defined heterogeneous tumor of the cervical spinal cord from level C2, down to C6, with solid and cystic tumor parts and marked contrast enhancement (Fig.1).


Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma.

Hochart A, Escande F, Rocourt N, Grill J, Koubi-Pick V, Beaujot J, Meignan S, Vinchon M, Maurage CA, Leblond P - Ann Clin Transl Neurol (2015)

MRI from the first tumor in 2002 (left column) and the recurrence in 2012 (right column). (A) Initial MR Imaging at diagnosis in November 2002, sagittal postcontrast T1 spin echo weight imaging (TR: 400; TE: 16) showing a heterogeneous tumor of the cervical spinal cord from level C2, down to C6, with solid and cystic tumor parts and with marked contrast enhancement. (B) Three years postsurgery treatment, sagittal MRI postcontrast T1 weight imaging (TR: 463; TE: 10): no recurrence. (C) Ten years after surgery treatment, postcontrast sagittal T1 weight imaging (TR: 470; TE: 8.6) showing a relapse as a spinal expansion from the cranio-cervical junction to level T1, with heterogeneous enhancement. (D) Ten years after surgery treatment, sagittal T2 weight imaging (TR: 3405; TE: 122) showing relapse with a hyperintense signal down to level T4.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4402089&req=5

fig01: MRI from the first tumor in 2002 (left column) and the recurrence in 2012 (right column). (A) Initial MR Imaging at diagnosis in November 2002, sagittal postcontrast T1 spin echo weight imaging (TR: 400; TE: 16) showing a heterogeneous tumor of the cervical spinal cord from level C2, down to C6, with solid and cystic tumor parts and with marked contrast enhancement. (B) Three years postsurgery treatment, sagittal MRI postcontrast T1 weight imaging (TR: 463; TE: 10): no recurrence. (C) Ten years after surgery treatment, postcontrast sagittal T1 weight imaging (TR: 470; TE: 8.6) showing a relapse as a spinal expansion from the cranio-cervical junction to level T1, with heterogeneous enhancement. (D) Ten years after surgery treatment, sagittal T2 weight imaging (TR: 3405; TE: 122) showing relapse with a hyperintense signal down to level T4.
Mentions: A 7-year-old girl with no familial history of neurofibromatosis presented with torticollis and left hemiparesia in 2002. Sagittal T1 MRI revealed a well-defined heterogeneous tumor of the cervical spinal cord from level C2, down to C6, with solid and cystic tumor parts and marked contrast enhancement (Fig.1).

Bottom Line: We report the first case of a child with a H3F3A K27M mutated pilocytic astrocytoma, who presented with a 10 years survival, and underwent spontaneous malignant transformation.H3F3A K27M mutations are rarely observed in benign neoplasms and may be associated with an adverse outcome.This mutation might not be the major driver that led to the onset of tumorigenesis, and we could consider that the associated TP53 mutation, would be required for malignant transformation.

View Article: PubMed Central - PubMed

Affiliation: Pediatric Oncology Unit, Oscar Lambret Center Lille, France.

ABSTRACT
We report the first case of a child with a H3F3A K27M mutated pilocytic astrocytoma, who presented with a 10 years survival, and underwent spontaneous malignant transformation. The complex tumoral chromosomal rearrangements were consistent for genomic instability and for the histopathological features of malignant transformation into glioblastoma. H3F3A K27M mutations are rarely observed in benign neoplasms and may be associated with an adverse outcome. This mutation might not be the major driver that led to the onset of tumorigenesis, and we could consider that the associated TP53 mutation, would be required for malignant transformation.

No MeSH data available.


Related in: MedlinePlus