Case 113

Provided clinical history

14 year old child with cognitive disturbances and hydrocephalus.

Site

Left thalamus.

Primary image

File:Pilomyxoid astrocytoma 02.jpg

Low magnification. H&E stain.

Intermediate magnification
File:Pilomyxoid astrocytoma 03.jpg Intermediate magnification. H&E stain.

High magnification
File:Pilomyxoid astrocytoma 04.jpg High magnification. H&E stain.

Differential diagnosis

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

Additional tests

More history

More history
There is no further information available

Ask a colleague

Ask a colleague
The elongated cell processes have a glial appearance

Stains

Alcian blue/PAS to Bilirubin Test Result Alcian blue/PAS No need for additional PAS staining here Alican blue pH 1.0 File:Pilomyxoid astrocytoma 01.jpg Alcian blue pH 2.5 File:Pilomyxoid astrocytoma 01.jpg Auramine Dr Torres would ask why! Bielchowsky Dr Torres would ask why! Bilirubin Dr Torres would ask why!	Colloidal iron to Fontana-Masson Test Result Colloidal iron Dr Torres would ask why! Congo red Dr Torres would ask why! Cresyl violet Dr Torres would ask why! Dieterle Dr Torres would ask why! Diff Quik Dr Torres would ask why! Fontana-Masson Dr Torres would ask why!	Gallyas to Gremelius Test Result Gallyas Dr Torres would ask why! Giemsa Dr Torres would ask why! GMS Dr Torres would ask why! Gomori's trichrome Dr Torres would ask why! Gram Dr Torres would ask why! Gremelius Dr Torres would ask why!	JMS to Mucicarmine Test Result JMS Dr Torres would ask why! Jones Dr Torres would ask why! Kinyoun Dr Torres would ask why! Luxol fast blue Dr Torres would ask why! Masson trichrome Dr Torres would ask why! M-MAS Dr Torres would ask why! Movat Dr Torres would ask why! Mucicarmine Dr Torres would ask why!	Oil red O to Prussian blue Test Result Oil red O Dr Torres would ask why! Orecein Dr Torres would ask why! PAS Dr Torres would ask why! PASD Dr Torres would ask why! PASF Dr Torres would ask why! PTAH Dr Torres would ask why! Prussian blue Dr Torres would ask why!	Reticulin to Ziehl-Neelsen Test Result Reticulin Dr Torres would ask why! Sudan black B Dr Torres would ask why! Toluidine blue Dr Torres would ask why! Verhoeff Dr Torres would ask why! Von Kossa Dr Torres would ask why! Warthin-Starry Dr Torres would ask why! Ziehl-Neeslen Dr Torres would ask why!

IHC

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

Molecular testing

Chromosomal translocations

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

Other molecular tests

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

Diagnosis

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