SLIDE SEMINAR CASES 5-8 - Pathology · SLIDE SEMINAR CASES 5-8 Arie Perry, M.D. ... FS . GFAP SOX2 . SYN NFP . IDH1-R132H p53 ... Genentech presentation 10/22
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SLIDE SEMINAR CASES 5-8
Arie Perry, M.D. Director, Neuropathology
School of Medicine
CASE 5
• 4-year-old girl
• Headache, nausea, vomiting, and unsteady gait
• MRI shows a 7 x 6 cm heterogeneously enhancing right frontal tumor and obstructive hydrocephalus
FLAIR FLAIR + C
DWI ADC
INI-1
Ki-67
GFAP SYN
NFP Neu-N NFP Neu-N
OLIG2
LIN28A ETANTR control
School of Medicine
DIAGNOSIS: CNS PNET, WHO GRADE IV
Heidelberg Report
School of Medicine
CASE 6
• 9-year-old boy
• Headaches, nausea/vomiting, behavioral changes and difficulty speaking
• Head MRI: 3.6 cm peripherally enhancing, partially cystic mass centered in the right thalamus
Smear
FS
GFAP SOX2
SYN NFP
IDH1-R132H p53
ATRX BRAF V600E
H3.3 K27M Trimethyl H3.3
Control
School of Medicine
ADDITIONAL FINDINGS
• OLIG2 and Neu-N negative
• Monosomy 10 by FISH
• EGFR gene amplification by FISH
• MGMT non-methylated
School of Medicine
DIAGNOSIS: GLIOBLASTOMA, WHO GRADE IV
Sturm et al.,
Cancer Cell
2012;22:425-437
School of Medicine
CLINICAL FOLLOWUP
• Rx: STR, RT, TMZ, lapatanib
• Later Rx: vaccine trial, avastin
• CSF cytology positive 9 mo later
• Patient expired about 13 mo after dx
School of Medicine
CASE 7
• 9-year-old boy
• 2 month history of weight loss, change in mental status and blindness
• MRI: large enhancing tumor arising from the frontal skull base
EMA PR
SSTR2A
Ki-67=25%
School of Medicine
DIAGNOSIS: ANAPLASTIC MENINGIOMA, WHO GRADE III
HPC MIII
HPC
EMA CD34
USCAP Meeting 2014: Mod Pathol 27;Supp 2, 439A, 2014
Genetics
• Translocations and inversions of Chr 12q13
• NAB2-STAT6 fusion
Nat Genet. 2013;45(2):131-2.
Acta Neuropathol. 2013;125(5):651-8.
Acta Neuropathol. 2013;125(5):651-8.
STAT6
HPC Giant Cell SFT
ANA Meningioma ANA Meningioma
School of Medicine
CASE 8
• 9-year-old boy
• Headaches and vomiting
• MRI: pineal region mass with aqueductal compression and associated hydrocephalus
• CSF studies revealed an elevated beta HCG of 11 (normal <1.5 IU/L)
Smear
FS
GFAP SYN
INI-1
NFP
Ki-67=6%
School of Medicine
DIAGNOSIS: PINEAL PARENCHYMAL TUMOR OF INTERMEDIATE DIFFERENTIATION, WHO GRADE III
Histologic subtype PCs PPTID
(low grade)
PPTID
(high grade)
PBs
Age group Adulthood Adulthood Childhood
Gross/radiologic appearence Rounded
Well-circumscribed
Pushing borders
Not yet clearly determined Irregular, lobulated
Ill-defined margins
Invasion
WHO grade I II III IV
Morphology Pineocytomatous rosettes
Density : moderate
Cells : medium-sized
Cytoplasm : clear or eosinophilic with
ill-defined limits
Nuclei : moderate size, round or indented
with inconspicuous nucleoli
Chromatin : thin or “ salt and pepper ”
Two architectures : diffuse or pseudolobulated
Transitional : Typical PC areas in continuity with PPTID component
Density : moderate to high
Cells : medium-sized to small
Cytoplasm : still visible
Nuclei : globally round with moderate anisocaryosis
Chromatin : “ salt and pepper ” with sometimes conspicuous nucleoli
Patternless architecture
Homer-Wright rosettes
Flexner-Wintersteiner rosettes, fleurettes (extremely rare)
Density : high
Cells : small
Cytoplasm : scant
Nuclei : carrot-shaped, round
Chromatin : hyperchromatic
Synaptophysin Strong, especially in pineocytomatous
rosettes
Cytoplasmic, weak to moderate Weak intensity, diffuse or focal
Mitoses 0
+++
6
++
6
+/-
6
++
Variable
+/- Neurofilament protein
Main treatments Surgery Optimal treatment not yet rated, but including surgery and at least one adjuvant
treatment
Surgery/radiotherapy/chemotherapy
Prognosis 8 Favorable
5-yr survival= 91%
Risk of local and delayed relapse
5-yr survival= 74%
Risk of metastatic dissemination
5-yr survival= 39%
Dismal
5-yr survival= 10%
Courtesy of Dr. Anne Jouvet
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