Case presentation- Changing trends in tumour diagnosis Dr. Hunaina - - PowerPoint PPT Presentation

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Case presentation- Changing trends in tumour diagnosis Dr. Hunaina - - PowerPoint PPT Presentation

Jan 31, 2024 184 likes •704 views

Case presentation- Changing trends in tumour diagnosis Dr. Hunaina Al Kindi, MD, FRCPA Directorate General of Khoula Hospital Sultanate of Oman Clin linical l his history ry A 5-year-old boy was operated for a right cerebellar lesion

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Case presentation- Changing trends in tumour diagnosis

  • Dr. Hunaina Al Kindi, MD, FRCPA

Directorate General of Khoula Hospital Sultanate of Oman

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Clin linical l his history ry

  • A 5-year-old boy was operated for a right cerebellar lesion in

2015.

  • Reported as glioblastoma grade IV.
  • 3 years later (2018) presented with one month history of

restlessness and headache at night.

  • Brain MRI revealed an enhancing mass lesion in the right

cerebellum.

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MRI Brain: 4.5 x 3.7 x 3.8 cm enhancing mass

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What is the diagnosis?

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Differential diagnosis

  • Anaplastic Ependymoma
  • Medulloblastoma
  • Glioblastoma with primitive neuronal component
  • CNS embryonal tumour, NOS
  • Embryonal tumour with multilayered rosettes
  • Atypical Teratoid/Rhabdoid tumour
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EMA

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Vim

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CD99

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Immunohistochemical profile

Positive

  • CD99
  • EMA focal, dot-like
  • S100
  • Vimentin
  • Neurofilament: patchy
  • NeuN: Focal

Negative

  • GFAP
  • SYNP
  • NSE
  • OLIG2
  • ATRX
  • INI1 (nuclear retained)
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What is the diagnosis?

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Differential diagnosis

  • Anaplastic Ependymoma
  • Medulloblastoma
  • Glioblastoma with primitive neuronal component
  • CNS embryonal tumour, NOS
  • Embryonal tumour with multilayered rosettes
  • Atypical Teratoid/Rhabdoid tumour
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Differential diagnosis

  • Anaplastic Ependymoma
  • Medulloblastoma
  • Glioblastoma with primitive neuronal component
  • CNS embryonal tumour, NOS
  • Embryonal tumour with multilayered rosettes
  • AT/RT
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Differential diagnosis

  • CNS embryonal tumour, NOS
  • Synaptophysin
  • NFP
  • -/+ GFAP
  • -/+NeuN: Focal
  • Embryonal tumour with

multilayered rosettes

  • CD99
  • Vimentin
  • EMA
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Differential diagnosis

  • CNS embryonal tumour, NOS
  • Synaptophysin
  • NFP
  • -/+ GFAP
  • -/+NeuN: Focal
  • Embryonal tumour with

multilayered rosettes

  • CD99
  • Vimentin
  • EMA
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Molecular analysis

  • Internal tandem duplication within exon 15 of the BCOR gene.
  • Focal amplification of TERT gene
  • Splice site mutation in the SMARCA2 gene with loss of the remaining

wild type allele

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Diagnosis

Central Nervous System High-grade Neuroepithelial Tumour with BCOR alteration

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Dis Discussion

  • Central nervous system high-grade neuroepithelial tumour

with BCOR alteration (CNS HGNET-BCOR) is a rare new entity

  • First described in February 2016
  • Previously diagnosed as CNS primitive neuroectodermal

tumours (CNS-PNET) as per the WHO classification (2000 & 2007)

  • CNS neuroblastoma
  • CNS ganglioneuroblastoma
  • Medulloepithelioma (ME)
  • Ependymoblastoma (EB)
  • Reclassified In WHO 2016 as CNS embryonal tumour, NOS
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Disc iscussio ion

  • Recently molecular analysis of CNS-PNETs identified four new

molecular entities designated as:

  • CNS neuroblastoma with FOXR2 (CNS NB-FOXR2)
  • CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC )
  • CNS high-grade neuroepithelial tumor with MN1 alteration (CNS

HGNET-MN1)

  • CNS high-grade neuroepithelial tumor with BCOR alteration (CNS

HGNET-BCOR)

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Disc iscussio ion

  • Recently molecular analysis of CNS-PNETs identified four new

molecular entities designated as:

  • CNS neuroblastoma with FOXR2 (CNS NB-FOXR2)
  • CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC )
  • CNS high-grade neuroepithelial tumor with MN1 alteration (CNS

HGNET-MN1)

  • CNS high-grade neuroepithelial tumor with BCOR alteration (CNS

HGNET-BCOR)

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CNS HGNET-BCOR

  • Affects particularly children
  • Occurs mostly in the supratentorial but occasionally in the

infratentorial region

  • Often resembles glioblastoma or anaplastic ependymoma
  • Absent or limited GFAP and Synaptophysin expression
  • Most tumor cells of CNS HGNET-BCOR exhibit
  • Glial morphology as stellate shaped cells with fibrillary processes
  • Ependymal-like perivascular pseudorosettes
  • Palisading necrosis
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CNS HGNET-BCOR

  • Characterized by somatic internal tandem duplications (ITD)

in the C-terminus (exon 15) of the BCL6 co-repressor (BCOR) gene and BCOR mRNA overexpression

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BCOR in internal tan andem du duplic icatio ions

  • Recently described also in:
  • Clear cell sarcomas of the kidney
  • Subset of Soft tissue undifferentiated round cell

sarcomas (URCS) in infants.

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CNS HGNET-BCOR

  • Preliminary survival data suggests poor overall

survival

  • May be overlooked and misdiagnosed as:
  • Anaplastic ependymomas
  • Glioblastomas
  • Medulloblastomas
  • CNS embryonal tumors, NOS
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Con

  • nclusion
  • CNS HGNET-BCOR is a new molecular entity.
  • Additional studies are needed to further characterize

these rare new subtypes.

  • The non-specific CNS embryonal tumour, NOS

category will be replaced by more specific entities.

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Tak ake e ho home mess essage

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Today

  • Brain tumour diagnosis is not by morphology alone

but needs molecular & genetic signatures.

  • Molecular routes that lead to tumour development

has modified treatment protocols as well.

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Just as Artificial Intelligence and Robotics are poised to eliminate human jobs, I fear that ….

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time is not far away when geneticists will at least partially replace us pathologists

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Ack cknowledgment:

  • Dr. Zahra Al Hajri
  • Prof. Arie Perry
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Thank you