Case 113

Provided clinical history

14 year old child with cognitive disturbances and hydrocephalus.

Site

Left thalamus.

Primary image

Low magnification. H&E stain.

Expand Intermediate magnification
Intermediate magnification. H&E stain.

Expand High magnification
High magnification. H&E stain.

Differential diagnosis

Expand Differential diagnosis
Myxoid schwannoma, Pilocytic astrocytoma, Pilomyxoid astrocytoma, DNT, Ganglioglioma

Additional tests

More history

Expand More history
There is no further information available

Ask a colleague

Expand Ask a colleague
The elongated cell processes have a glial appearance

Stains

ExpandAlcian blue/PAS to Bilirubin Test Result Alcian blue/PAS Expand No need for additional PAS staining here Alican blue pH 1.0 Expand Alcian blue pH 2.5 Expand Auramine Expand Dr Torres would ask why! Bielchowsky Expand Dr Torres would ask why! Bilirubin Expand Dr Torres would ask why!	ExpandColloidal iron to Fontana-Masson Test Result Colloidal iron Expand Dr Torres would ask why! Congo red Expand Dr Torres would ask why! Cresyl violet Expand Dr Torres would ask why! Dieterle Expand Dr Torres would ask why! Diff Quik Expand Dr Torres would ask why! Fontana-Masson Expand Dr Torres would ask why!	ExpandGallyas to Gremelius Test Result Gallyas Expand Dr Torres would ask why! Giemsa Expand Dr Torres would ask why! GMS Expand Dr Torres would ask why! Gomori's trichrome Expand Dr Torres would ask why! Gram Expand Dr Torres would ask why! Gremelius Expand Dr Torres would ask why!	ExpandJMS to Mucicarmine Test Result JMS Expand Dr Torres would ask why! Jones Expand Dr Torres would ask why! Kinyoun Expand Dr Torres would ask why! Luxol fast blue Expand Dr Torres would ask why! Masson trichrome Expand Dr Torres would ask why! M-MAS Expand Dr Torres would ask why! Movat Expand Dr Torres would ask why! Mucicarmine Expand Dr Torres would ask why!	ExpandOil red O to Prussian blue Test Result Oil red O Expand Dr Torres would ask why! Orecein Expand Dr Torres would ask why! PAS Expand Dr Torres would ask why! PASD Expand Dr Torres would ask why! PASF Expand Dr Torres would ask why! PTAH Expand Dr Torres would ask why! Prussian blue Expand Dr Torres would ask why!	ExpandReticulin to Ziehl-Neelsen Test Result Reticulin Expand Dr Torres would ask why! Sudan black B Expand Dr Torres would ask why! Toluidine blue Expand Dr Torres would ask why! Verhoeff Expand Dr Torres would ask why! Von Kossa Expand Dr Torres would ask why! Warthin-Starry Expand Dr Torres would ask why! Ziehl-Neeslen Expand Dr Torres would ask why!

IHC

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

Molecular testing

Chromosomal translocations

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

Other molecular tests

ExpandMolecular tests (A-B) Test Result ALK sequencing Expand Dr Torres would ask why! B cell clonality Southern / PCR Expand Dr Torres would ask why! BCL2 PCR Expand Dr Torres would ask why! BRAF sequencing Expand KIAA1549(Exon15)-BRAF(Exon9) TRANSCRIPT FOUND	ExpandMolecular tests (C-H) Test Result EBV PCR Expand Dr Torres would ask why! EGRF sequencing Expand Dr Torres would ask why! H3F3A sequencing Expand WILDTYPE HHV-8 PCR Expand Dr Torres would ask why!	ExpandMolecular tests (I-J) Test Result Identity testing PCR Expand Dr Torres would ask why! IDH1/2 PCR Expand WILDTYPE JAK2 V617F ARMS Expand Dr Torres would ask why!	ExpandMolecular tests (K-Z) Test Result KIT sequencing Expand Dr Torres would ask why! LOH 1p/19q PCR Expand NO LOH 1p/19q T cell clonality Southern / PCR Expand Dr Torres would ask why!

Diagnosis

Expand Diagnosis

PILOMYXOID ASTROCYTOMA GRADE II WHO WITH KIAA1549(Exon15)-BRAF(Exon9) FUSION Comment: Pilomyxoid astrocytomas are a variant of pilocytic astrocytoma and share the same genetic abberations such as KIAA1549-BRAF fusions as seen in the current case. They usually lack the typical compact areas with rosenthal fibers seen in pilocytic astrocytomas. The tumors have been designated as WHO grade II tumours in the 2007 WHO classification, because of their tendency to recur more often. A hypothalamic/chiasmatic location itself is a adverse prognostic factor. References