Case 120

Provided clinical history

3 year old child with hydrocephalus and slight leptomeningeal enhancement.

Site

Leptomeningeal (arachnoid) biopsy.

Primary image

Intermediate magnification. H&E stain.

Expand Intermediate magnification
Intermediate magnification. H&E stain.

Expand High magnification
Intermediate magnification. H&E stain.

Differential diagnosis

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

Additional tests

More history

Expand 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

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

Stains

ExpandAlcian blue/PAS to Bilirubin Test Result Alcian blue/PAS Expand Dr White would ask why! Alican blue pH 1.0 Expand Dr White would ask why! Alcian blue pH 2.5 Expand Dr White would ask why! Auramine Expand Dr White would ask why! Bielchowsky Expand Dr White would ask why! Bilirubin Expand Dr White would ask why!	ExpandColloidal iron to Fontana-Masson Test Result Colloidal iron Expand Dr White would ask why! Congo red Expand Dr White would ask why! Cresyl violet Expand Dr White would ask why! Dieterle Expand Dr White would ask why! Diff Quik Expand Dr White would ask why! Fontana-Masson Expand Dr White would ask why!	ExpandGallyas to Gremelius Test Result Gallyas Expand Dr White would ask why! Giemsa Expand Dr White would ask why! GMS Expand Dr White would ask why! Gomori's trichrome Expand Dr White would ask why! Gram Expand Dr White would ask why! Gremelius Expand Dr White would ask why!	ExpandJMS to Mucicarmine Test Result JMS Expand Dr White would ask why! Jones Expand Dr White would ask why! Kinyoun Expand Dr White would ask why! Luxol fast blue Expand Dr White would ask why! Masson trichrome Expand Dr White would ask why! M-MAS Expand Dr White would ask why! Movat Expand Dr White would ask why! Mucicarmine Expand Dr White would ask why!	ExpandOil red O to Prussian blue Test Result Oil red O Expand Dr White would ask why! Orecein Expand Dr White would ask why! PAS Expand NEGATIVE PASD Expand Dr White would ask why! PASF Expand Dr White would ask why! PTAH Expand Dr White would ask why! Prussian blue Expand Dr White would ask why!	ExpandReticulin to Ziehl-Neelsen Test Result Reticulin Expand Dr White would ask why! Sudan black B Expand Dr White would ask why! Toluidine blue Expand Dr White would ask why! Verhoeff Expand Dr White would ask why! Von Kossa Expand Dr White would ask why! Warthin-Starry Expand Dr White would ask why! Ziehl-Neeslen Expand Dr White would ask why!

IHC

ExpandAlpha-1 AT to Cathepsin K Test Result alpha-1 AT Expand Dr White would ask why! ACTH Expand Dr White would ask why! AE1/AE1 Expand NEGATIVE alpha-fetoprotein Expand Dr White would ask why! Alk-I Expand Dr White would ask why! AMACR Expand Dr White would ask why! AR Expand Dr White would ask why! ATRX Expand NO LOSS Beta2-microglobulin Expand Dr White would ask why! B72.3 Expand Dr White would ask why! Beta-catenin Expand Dr White would ask why! BCL2 Expand Dr White would ask why! BCL6 Expand Dr White would ask why! BCLxL Expand Dr White would ask why! C3 comp Expand Dr White would ask why! CA9 Expand Dr White would ask why! Calcitonin Expand Dr White would ask why! Calponin Expand Dr White would ask why! Calretinin Expand Dr White would ask why! CAM5.2 Expand Dr White would ask why! Cathepsin K Expand Dr White would ask why!	ExpandCD10 to Chromogranin Test Result CD10 Expand Dr White would ask why! CD117 Expand Dr White would ask why! CD138 Expand Dr White would ask why! CD15 Expand Dr White would ask why! CD1a Expand Dr White would ask why! CD20 Expand Dr White would ask why! CD21 Expand Dr White would ask why! CD23 Expand Dr White would ask why! CD3 Expand Dr White would ask why! CD30 Expand Dr White would ask why! CD31 Expand NEGATIVE CD34 Expand NEGATIVE CD35 Expand Dr White would ask why! CD4 Expand Dr White would ask why! CD43 Expand Dr White would ask why! CD45 (LCA) Expand NEGATIVE CD5 Expand Dr White would ask why! CD56 Expand Dr White would ask why! CD57 Expand Dr White would ask why! CD68 Expand Dr White would ask why! CD7 Expand Dr White would ask why! CD79a Expand Dr White would ask why! CD8 Expand Dr White would ask why! CD99 Expand NEGATIVE CDX2 Expand Dr White would ask why! CEA-m Expand Dr White would ask why! Chromogranin Expand Dr White would ask why!	ExpandCK17 to Glypican 3 Test Result CK17 Expand Dr White would ask why! CK19 Expand Dr White would ask why! CK20 Expand Dr White would ask why! CK34betaE12 Expand Dr White would ask why! CK5/6 Expand Dr White would ask why! CK7 Expand Dr White would ask why! CMV Expand Dr White would ask why! c-MYC Expand Dr White would ask why! Cyclin D1 Expand Dr White would ask why! D2-40 Expand Dr White would ask why! Desmin Expand Dr White would ask why! DOG1 Expand Dr White would ask why! EBV Expand Dr White would ask why! EMA Expand Dr White would ask why! ER and PR Expand Dr White would ask why! Factor VIII Expand Dr White would ask why! Factor XIIIa Expand Dr White would ask why! Fascin Expand Dr White would ask why! FH Expand Dr White would ask why! FSH Expand Dr White would ask why! Gastrin Expand Dr White would ask why! GATA3 Expand Dr White would ask why! GCDFP-15 (BRST2) Expand Dr White would ask why! GFAP Expand POSTIVE GH Expand Dr White would ask why! Glucagon Expand Dr White would ask why! Glypican-3 Expand Dr White would ask why!	ExpandHBME-1 to IgM Test Result HBME-1 Expand Dr White would ask why! HBV core Expand Dr White would ask why! HBV surface Expand Dr White would ask why! H-caldesmon Expand Dr White would ask why! HCG Expand Dr White would ask why! Helicobacter Expand Dr White would ask why! Hepatocyte Expand Dr White would ask why! HER2/neu Expand Dr White would ask why! HHV-8 Expand Dr White would ask why! HMB-45 Expand Dr White would ask why! HNF1beta Expand Dr White would ask why! HPV Expand Dr White would ask why! HSV-I Expand Dr White would ask why! HSV-II Expand Dr White would ask why! IDH-1 Expand NEGATIVE Inhibin Expand Dr White would ask why! INI1 (BAF47) Expand Dr White would ask why! Insulin Expand Dr White would ask why! Kappa Expand Dr White would ask why! Ki-67 Expand 6% Lambda Expand Dr White would ask why! Leu 7 Expand Dr White would ask why! IgA Expand Dr White would ask why! IgG Expand Dr White would ask why! IgM Expand Dr White would ask why!	ExpandLH to PDGFR Test Result LH Expand Dr White would ask why! LIN28 Expand Dr White would ask why! Lysozyme Expand Dr White would ask why! mammoglobin Expand Dr White would ask why! MAP2 Expand POSITIVE MCV Expand Dr White would ask why! Melanin A Expand NEGATIVE MHC class I Expand Dr White would ask why! MITF Expand Dr White would ask why! MUM1 Expand Dr White would ask why! Myeloperoxidase Expand Dr White would ask why! MYO D1 Expand Dr White would ask why! Myoglobin Expand Dr White would ask why! Napsin Expand Dr White would ask why! NF Expand Dr White would ask why! NKX3.1 Expand Dr White would ask why! NSE Expand Dr White would ask why! OCT3/4 Expand Dr White would ask why! p16 Expand Dr White would ask why! P501S Expand Dr White would ask why! p53 Expand Dr White would ask why! p57 Expand Dr White would ask why! p63 Expand Dr White would ask why! Pankeratin Expand NEGATIVE PAX2 Expand Dr White would ask why! PAX5 Expand Dr White would ask why! PAX8 Expand Dr White would ask why! PCNA Expand Dr White would ask why! PDGFR Expand Dr White would ask why!	ExpandPLAP to WT1 Test Result PLAP Expand Dr White would ask why! PNL-2C Expand Dr White would ask why! Prolactin Expand Dr White would ask why! PSA Expand Dr White would ask why! PSAP Expand Dr White would ask why! RCC Expand Dr White would ask why! S-100 Expand POSITIVE SALL4 Expand Dr White would ask why! Smooth muscle actin Expand Dr White would ask why! Somatostatin Expand Dr White would ask why! STAT6 Expand Dr White would ask why! Synaptophysin Expand NEGATIVE TdT Expand Dr White would ask why! TFE3 Expand Dr White would ask why! TFEB Expand Dr White would ask why! Thyroglobulin Expand Dr White would ask why! Toxoplasma Expand Dr White would ask why! TSH Expand Dr White would ask why! TTF-1 Expand Dr White would ask why! Ubiquitin Expand Dr White would ask why! UCHL1 (PGP9.5) Expand Dr White would ask why! Ulex Europaeus Expand Dr White would ask why! Vimentin Expand POSITIVE VIP Expand Dr White would ask why! VZV Expand Dr White would ask why! WT-1 Expand Dr White would ask why!

Molecular testing

Chromosomal translocations

ExpandTranslocations Chr 1-10 Test Result t(1;13) PAX7-FKHR Expand Dr White would ask why! t(2,13) PAX3-FKHR Expand Dr White would ask why! t(8;14) MYC-IGH Expand Dr White would ask why! t(9;22) BCR-ABL Expand Dr White would ask why! t(9;22) CHN-EWS Expand Dr White would ask why!	ExpandTranslocations Chr 11-13 Test Result t(11;14) CCND1-IGH Expand Dr White would ask why! t(11;22) EWS-WT1 Expand Dr White would ask why! t(11;22) FLI1-EWS Expand Dr White would ask why! t(12;15) ETV6-NTRK3 Expand Dr White would ask why! t(12;16) FUS-ATF1 Expand Dr White would ask why! t(12;16) CHOP-TLS Expand Dr White would ask why! t(12;22) EWS-ATF1 Expand Dr White would ask why!	ExpandTranslocations Chr 14-22 Test Result t(14,18) IGH-BCL2 Expand Dr White would ask why! t(15;17) PML-RARA Expand Dr White would ask why! t(16;21) FUS-ERG Expand Dr White would ask why! t(17;22) COLA1-PDGFB Expand Dr White would ask why! t(21;22) EWS-ERG Expand Dr White would ask why!	ExpandTranslocations Chr X & Y Test Result t(X;1) PRCC-TFE3 Expand Dr White would ask why! t(X;17) TFE3-ASPL Expand Dr White would ask why! t(X;18) SYT-SSX Expand Dr White would ask why!

Other molecular tests

ExpandMolecular tests (A-B) Test Result ALK sequencing Expand Dr White would ask why! B cell clonality Southern / PCR Expand Dr White would ask why! BCL2 PCR Expand Dr White would ask why! BRAF sequencing Expand KIAA1549 (Exon15)-BRAF (Exon9) fusion found	ExpandMolecular tests (C-H) Test Result EBV PCR Expand Dr White would ask why! EGRF sequencing Expand Dr White would ask why! H3F3A sequencing Expand NEGATIVE HHV-8 PCR Expand Dr White would ask why!	ExpandMolecular tests (I-J) Test Result Identity testing PCR Expand Dr White would ask why! IDH1/2 PCR Expand NEGATIVE JAK2 V617F ARMS Expand Dr White would ask why!	ExpandMolecular tests (K-Z) Test Result KIT sequencing Expand Dr White would ask why! LOH 1p/19q PCR Expand LOH 1p/19q present T cell clonality Southern / PCR Expand Dr White would ask why!

Diagnosis

Expand 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.