Difference between revisions of "Case 120"

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Latest revision as of 09:40, 29 February 2016

Provided clinical history

3 year old child with hydrocephalus and slight leptomeningeal enhancement.

Site

Leptomeningeal (arachnoid) biopsy.

Primary image

Neuropathology case DOLN HE I.jpg
Intermediate magnification. H&E stain.
Intermediate magnification 
Neuropathology case DOLN HE II.jpg
Intermediate magnification. H&E stain.
High magnification 
Neuropathology case DOLN HE III.jpg
Intermediate magnification. H&E stain.

Differential diagnosis

Differential diagnosis 
Reactive astrocytosis, meningeal infection, astrocytoma, oligodendroglioma, pilocytic astrocytoma

Additional tests

More history

More history 
Diffuse thickening of leptomeninges and progressive spread of the signal alterations along leptomeningeal structures and into the lateral ventricles. The alterations are superficially without contact to the central canal of the spinal cord. No solid mass lesion.

Ask a colleague

Ask a colleague 
No primary intraparenchymal or meningeal mass lesion? Think of a diffuse growing glial neoplasm.

Stains

Alcian blue/PAS to Bilirubin
Test Result
Alcian blue/PASDr White would ask why!
Alican blue pH 1.0Dr White would ask why!
Alcian blue pH 2.5Dr White would ask why!
AuramineDr White would ask why!
BielchowskyDr White would ask why!
BilirubinDr White would ask why!
Colloidal iron to Fontana-Masson
Test Result
Colloidal ironDr White would ask why!
Congo redDr White would ask why!
Cresyl violetDr White would ask why!
DieterleDr White would ask why!
Diff QuikDr White would ask why!
Fontana-MassonDr White would ask why!
Gallyas to Gremelius
Test Result
GallyasDr White would ask why!
GiemsaDr White would ask why!
GMSDr White would ask why!
Gomori's trichromeDr White would ask why!
GramDr White would ask why!
GremeliusDr White would ask why!
JMS to Mucicarmine
Test Result
JMSDr White would ask why!
JonesDr White would ask why!
KinyounDr White would ask why!
Luxol fast blueDr White would ask why!
Masson trichromeDr White would ask why!
M-MASDr White would ask why!
MovatDr White would ask why!
MucicarmineDr White would ask why!
Oil red O to Prussian blue
Test Result
Oil red ODr White would ask why!
OreceinDr White would ask why!
PASNEGATIVE
PASDDr White would ask why!
PASFDr White would ask why!
PTAHDr White would ask why!
Prussian blueDr White would ask why!
Reticulin to Ziehl-Neelsen
Test Result
ReticulinDr White would ask why!
Sudan black BDr White would ask why!
Toluidine blueDr White would ask why!
VerhoeffDr White would ask why!
Von KossaDr White would ask why!
Warthin-StarryDr White would ask why!
Ziehl-NeeslenDr White would ask why!

IHC

Alpha-1 AT to Cathepsin K
Test Result
alpha-1 AT Dr White would ask why!
ACTH Dr White would ask why!
AE1/AE1NEGATIVE
alpha-fetoprotein Dr White would ask why!
Alk-I Dr White would ask why!
AMACRDr White would ask why!
ARDr White would ask why!
ATRXNO LOSS
Beta2-microglobulin Dr White would ask why!
B72.3 Dr White would ask why!
Beta-cateninDr White would ask why!
BCL2 Dr White would ask why!
BCL6 Dr White would ask why!
BCLxL Dr White would ask why!
C3 comp Dr White would ask why!
CA9Dr White would ask why!
Calcitonin Dr White would ask why!
Calponin Dr White would ask why!
Calretinin Dr White would ask why!
CAM5.2Dr White would ask why!
Cathepsin KDr White would ask why!
CD10 to Chromogranin
Test Result
CD10 Dr White would ask why!
CD117 Dr White would ask why!
CD138Dr White would ask why!
CD15 Dr White would ask why!
CD1a Dr White would ask why!
CD20 Dr White would ask why!
CD21 Dr White would ask why!
CD23 Dr White would ask why!
CD3 Dr White would ask why!
CD30 Dr White would ask why!
CD31 NEGATIVE
CD34 NEGATIVE
CD35 Dr White would ask why!
CD4 Dr White would ask why!
CD43 Dr White would ask why!
CD45 (LCA)NEGATIVE
CD5 Dr White would ask why!
CD56 Dr White would ask why!
CD57Dr White would ask why!
CD68 Dr White would ask why!
CD7 Dr White would ask why!
CD79a Dr White would ask why!
CD8 Dr White would ask why!
CD99 NEGATIVE
CDX2Dr White would ask why!
CEA-m Dr White would ask why!
Chromogranin Dr White would ask why!
CK17 to Glypican 3
Test Result
CK17Dr White would ask why!
CK19Dr White would ask why!
CK20 Dr White would ask why!
CK34betaE12 Dr White would ask why!
CK5/6Dr White would ask why!
CK7 Dr White would ask why!
CMV Dr White would ask why!
c-MYC Dr White would ask why!
Cyclin D1 Dr White would ask why!
D2-40Dr White would ask why!
Desmin Dr White would ask why!
DOG1Dr White would ask why!
EBV Dr White would ask why!
EMADr White would ask why!
ER and PR Dr White would ask why!
Factor VIII Dr White would ask why!
Factor XIIIa Dr White would ask why!
Fascin Dr White would ask why!
FHDr White would ask why!
FSH Dr White would ask why!
Gastrin Dr White would ask why!
GATA3Dr White would ask why!
GCDFP-15 (BRST2)Dr White would ask why!
GFAPPOSTIVE
GH Dr White would ask why!
Glucagon Dr White would ask why!
Glypican-3Dr White would ask why!
HBME-1 to IgM
Test Result
HBME-1 Dr White would ask why!
HBV core Dr White would ask why!
HBV surface Dr White would ask why!
H-caldesmonDr White would ask why!
HCG Dr White would ask why!
HelicobacterDr White would ask why!
Hepatocyte Dr White would ask why!
HER2/neu Dr White would ask why!
HHV-8Dr White would ask why!
HMB-45Dr White would ask why!
HNF1betaDr White would ask why!
HPV Dr White would ask why!
HSV-I Dr White would ask why!
HSV-II Dr White would ask why!
IDH-1NEGATIVE
Inhibin Dr White would ask why!
INI1 (BAF47)Dr White would ask why!
Insulin Dr White would ask why!
Kappa Dr White would ask why!
Ki-67 6%
Lambda Dr White would ask why!
Leu 7 Dr White would ask why!
IgA Dr White would ask why!
IgG Dr White would ask why!
IgM Dr White would ask why!
LH to PDGFR
Test Result
LH Dr White would ask why!
LIN28 Dr White would ask why!
Lysozyme Dr White would ask why!
mammoglobinDr White would ask why!
MAP2POSITIVE
MCVDr White would ask why!
Melanin A NEGATIVE
MHC class I Dr White would ask why!
MITFDr White would ask why!
MUM1Dr White would ask why!
Myeloperoxidase Dr White would ask why!
MYO D1 Dr White would ask why!
MyoglobinDr White would ask why!
NapsinDr White would ask why!
NFDr White would ask why!
NKX3.1Dr White would ask why!
NSE Dr White would ask why!
OCT3/4Dr White would ask why!
p16Dr White would ask why!
P501SDr White would ask why!
p53 Dr White would ask why!
p57Dr White would ask why!
p63 Dr White would ask why!
PankeratinNEGATIVE
PAX2Dr White would ask why!
PAX5Dr White would ask why!
PAX8Dr White would ask why!
PCNA Dr White would ask why!
PDGFRDr White would ask why!
PLAP to WT1
Test Result
PLAP Dr White would ask why!
PNL-2C Dr White would ask why!
Prolactin Dr White would ask why!
PSA Dr White would ask why!
PSAPDr White would ask why!
RCCDr White would ask why!
S-100POSITIVE
SALL4Dr White would ask why!
Smooth muscle actin Dr White would ask why!
Somatostatin Dr White would ask why!
STAT6 Dr White would ask why!
Synaptophysin NEGATIVE
TdT Dr White would ask why!
TFE3Dr White would ask why!
TFEBDr White would ask why!
Thyroglobulin Dr White would ask why!
Toxoplasma Dr White would ask why!
TSH Dr White would ask why!
TTF-1 Dr White would ask why!
Ubiquitin Dr White would ask why!
UCHL1 (PGP9.5)Dr White would ask why!
Ulex Europaeus Dr White would ask why!
VimentinPOSITIVE
VIP Dr White would ask why!
VZV Dr White would ask why!
WT-1Dr White would ask why!


Molecular testing

Chromosomal translocations
Translocations Chr 1-10
Test Result
t(1;13) PAX7-FKHR Dr White would ask why!
t(2,13) PAX3-FKHR Dr White would ask why!
t(8;14) MYC-IGHDr White would ask why!
t(9;22) BCR-ABL Dr White would ask why!
t(9;22) CHN-EWS Dr White would ask why!
Translocations Chr 11-13
Test Result
t(11;14) CCND1-IGH Dr White would ask why!
t(11;22) EWS-WT1 Dr White would ask why!
t(11;22) FLI1-EWS Dr White would ask why!
t(12;15) ETV6-NTRK3 Dr White would ask why!
t(12;16) FUS-ATF1 Dr White would ask why!
t(12;16) CHOP-TLS Dr White would ask why!
t(12;22) EWS-ATF1 Dr White would ask why!
Translocations Chr 14-22
Test Result
t(14,18) IGH-BCL2 Dr White would ask why!
t(15;17) PML-RARA Dr White would ask why!
t(16;21) FUS-ERG Dr White would ask why!
t(17;22) COLA1-PDGFB Dr White would ask why!
t(21;22) EWS-ERG Dr White would ask why!
Translocations Chr X & Y
Test Result
t(X;1) PRCC-TFE3Dr White would ask why!
t(X;17) TFE3-ASPL Dr White would ask why!
t(X;18) SYT-SSX Dr White would ask why!
Other molecular tests
Molecular tests (A-B)
Test Result
ALK sequencingDr White would ask why!
B cell clonality Southern / PCR Dr White would ask why!
BCL2 PCR Dr White would ask why!
BRAF sequencingKIAA1549 (Exon15)-BRAF (Exon9) fusion found
Molecular tests (C-H)
Test Result
EBV PCR Dr White would ask why!
EGRF sequencingDr White would ask why!
H3F3A sequencingNEGATIVE
HHV-8 PCR Dr White would ask why!
Molecular tests (I-J)
Test Result
Identity testing PCR Dr White would ask why!
IDH1/2 PCR NEGATIVE
JAK2 V617F ARMS Dr White would ask why!
Molecular tests (K-Z)
Test Result
KIT sequencing Dr White would ask why!
LOH 1p/19q PCR LOH 1p/19q present
T cell clonality Southern / PCR Dr White would ask why!


Diagnosis

Diagnosis 
Disseminated oligodendroglial-like leptomeningeal tumour


Comment: DOLN may look very similiar (being histologically indistinguishable) to pilocytic astrocytoma but absence of solid lesion and molecular profile (combined chromosomal 1p loss + presence of a KIAA1549-BRAF fusion) are diagnostic.

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