Neurosurgery notes/Tumours/Gliomas, Glioneuronal Tumors, and Neuronal Tumors/Ependymoma/Supratentorial ependymoma (STE)

Supratentorial ependymoma (STE)

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Status
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Parent item
Ependymoma
Sub-item
Supratentorial ependymoma, ZFTA fusion-positive
Supratentorial ependymoma, YAP1 fusion-positive

Molecular classification

Features
ST ependymoma ZFTA
ST ependymoma YAP1
Age
Adults and children
Children
% of total STE
75%
7%
Molecular pathology
ZFTA-RELA fusion
YAP1-MAMLD1 fusion
Radiology
More solid
More cystic
Prognosis
Poorer
Better
Location
Frontal/parietal lobe
Lateral ventricle

Gene fusion types

  • Supra tentorial (ST) ependymoma: mainly made up of the below 2 fusions but other fusion rare but also are present
Molecular Group
Implicated Gene
Gene Name
Cytogenetic Band
Pathogenic Impact
Hallmark of Cancer (Promotes)
Hallmark of Cancer (Suppresses)
ST-EPN-ZFTA
ZFTA
Zinc finger translocation associated
11q13.1
3'-partner gene in ZFTA–RELA fusion
Genome instability
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ST-EPN-ZFTA
RELA
V-Rel avian reticuloendotheliosis viral oncogene homolog A
11q13.1
3'-partner gene in ZFTA–RELA fusion
Escaping programmed cell death; tumor promoting inflammation
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ST-EPN-ZFTA
MAML2
Mastermind-like transcriptional coactivator 2
11q21
3'-partner gene in ZFTA–MAML2 fusion
Proliferative signaling; angiogenesis
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ST-EPN-ZFTA
NCOA1
Nuclear receptor coactivator 1
2p23.3
3'-partner gene in ZFTA–NCOA1 fusion
Proliferative signaling; change of cellular energetics
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ST-EPN-ZFTA
NCOA2
Nuclear receptor coactivator 2
8q13.3
3'-partner gene in ZFTA–NCOA2 fusion
Proliferative signaling; change of cellular energetics; escaping cell death
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ST-EPN-YAP1
YAP1
Yes1-associated transcriptional regulator
11q22.1
3'-partner gene in YAP1–MAMLD1 fusion
Proliferative signaling; escaping cell death; invasion and metastasis
Escaping programmed cell death
ST-EPN-YAP1
MAMLD1
Mastermind-like domain-containing 1
Xq28
3'-partner gene in YAP1–MAMLD1 fusion
Proliferative signaling; angiogenesis
Escaping programmed cell death
ST-EPN-YAP1
FAM118B
Family with sequence similarity 118 member B
11q24.2
3'-partner gene in YAP1–FAM118B fusion
Unknown
Unknown
Non-ZFTA/Non-YAP1 ST-EPNs
PLAGL1
PLAG1-like zinc finger 1
6q24.2
EWSR1–PLAGL1 fusion; PLAGL1–FOXO1 or PLAGL1–EP300 fusion
Suppression of growth
Escaping immune response, inflammation, metastasis, angiogenesis
Non-ZFTA/Non-YAP1 ST-EPNs
EWSR1
EWS RNA binding protein 1
22q12.2
PLAGL1–EWSR1 fusion or EWSR1–PATZ1 fusion
Proliferative signaling; escaping cell death; angiogenesis; metastasis
Genome instability
Non-ZFTA/Non-YAP1 ST-EPNs
FOXO1
Forkhead box O1
13q14.11
3'-partner gene in PLAGL1–FOXO1 fusion
Change of cellular energetics
Escaping programmed cell death
Non-ZFTA/Non-YAP1 ST-EPNs
EP300
E1A proto-oncogene, transcriptional regulator
22q13.2
3'-partner gene in PLAGL1–EP300 fusion
Suppression of growth
Escaping programmed cell death
Non-ZFTA/Non-YAP1 ST-EPNs
PATZ1
POZ/BTB and AT hook-containing zinc finger 1
22q12.2
EWSR1–PATZ1 fusion or MN1–PATZ1 fusion
Proliferative signaling; escaping cell death
Escaping programmed cell death
Non-ZFTA/Non-YAP1 ST-EPNs
MN1
MN1 proto-oncogene, transcriptional regulator
22q12.1
5'-partner gene in MN1–PATZ1 fusion
Suppression of growth
Escaping programmed cell death

Numbers

  • The proportion of ependymomas arising in the supratentorial compartment decreases with age
    • 41% in Children
    • 27% in Adolescents
    • 12% in Young adults
    • 11% in Adults aged > 45 years

Radiology

  • Periwinkle sign:
    • Coined to describe what has been claimed to be a characteristic appearance of intraparenchymal supratentorial ependymomas on non-enhanced CT axial images.
      • The central solid component sometimes demonstrates centripetal calcification surrounding the central necrotic core. This appearance is reminiscent of a periwinkle flower
      notion image
      notion image
      notion image
  • Tumours tend to be heterogenous hemispheric masses with cysts and necrosis with perilesional oedema
  • Heterogenous enhancement and restricted diffusion within the solid components are typical
  • The cyst wall enhances therefore it has tumour cells and needs to be resected

Images

  • A 6.5-year-old girl presented with a
    • 6-week history of headache and weight loss, squint of the left eye, abdominal pain, and vomiting.
    • Right 6th nerve palsy.
  • T2w (A), coronal FLAIR (B), sagittal T1w-CE (C), and ADC (D) show a left parietal mass causing significant midline shift and mass effect on the corpus callosum.
  • Restricted diffusion is present.
  • The mass also shows avid, heterogenous enhancement of the periphery and solid tumour components
notion image

Management

  • Surgery
    • Aim
      • GTR
    • Technique:
      • Take the cyst wall, The cyst wall looks different from surrounding Pia
        • Take some of the white matter if worried about residue
  • Radiotherapy and chemotherapy

Outcome

  • Upadhyaya 2019: Surgery + Chemo + focal RT
    • Affected by degree of resection
      •