2017 Annual Meeting

Evening Specialty Conference
Neuropathology

Integrated Diagnosis, Texas Style (Bigger and Better)

March 7 2017, 7:30pm to 9:30pm

Moderator:
Arie Perry, MD
Panelists:
Suzanne Powell, MD - Alex Judkins, MD - Christine Fuller, MD - Fausto J. Rodriguez, MD - Anthony Yachnis, MD

Pre-Meeting Materials

Case 1

Faculty:
Suzanne Powell, MD

Clinical History:

Fourteen (14) month old twin girl with regression of milestones (loss of "mama" and "dada") and difficulty with balance. Recent viral gastroenteritis 2 months prior to current presentation and an upper respiratory infection 2 weeks prior to presentation

Morphological Findings (click to enlarge):

Figure 1Touch preparation from the posterior fossa mass MRI
Figure 2Sagittal image of posterior fossa mass
Figure 3Medium power H&E of mass
Figure 4High power H&E of mass (foreground)
Figure 5Synaptophysin immunohistochemistry
Figure 6GFAP immunohistochemistry

Case 2

Faculty:
Alex Judkins, MD

Clinical History:

A four month old female infant presented with acute onset right-sided facial erythema, swelling and weakness.

Morphological Findings (click to enlarge):

Figure 1Sagittal T1 post contrast
Figure 2H&E 10x
Figure 3H&E 40x
Figure 4H&E 20x
Figure 5H&E 40x

Case 3

Faculty:
Christine Fuller, MD

Clinical History:

A 10 year-old girl presented with 2 month history of intermittent episodes of emesis that would wax and wane. These episodes eventually worsened, and she began experiencing episodes (<10 seconds) of what were initially thought to represent panic attacks. Her decreased PO intake and weight loss prompted a visit to her primary care physician, who immediately referred her to a neurologist. Suspecting these "panic attacks" in fact represented seizures, he ordered appropriate imaging studies. MRI revealed a large confluent expansile mass centered within the right thalamus / basal ganglia and extending into the right temporal lobe. It was characterized by mildly hyperintense signal on T2 / FLAIR sequences, and was minimally hypointense on T1-weighted images. Post contrast enhancement was focal and minimal. Tumor was seen to extend through the genu of the corpus callosum (with focal hemorrhagic conversion). As defined by signal abnormality on FLAIR sequence, the tumor extended anterior and inferiorly into the gyrus rectus on each side, and crossed the midline at the anterior commissure to infiltrate the left basal ganglia and insular cortex. Tumor also extended into the uncus and anterior inferior aspect of the left temporal lobe, as well as crossed through the upper brainstem to infiltrate the left thalamus. It extended laterally into the right insular cortex and into the right temporal lobe. Irregular diffusion restriction was detected in multifocal locations of this tumor. (Figures 3A - 3C) She underwent subtotal resection / excisional biopsy of the lesion (right temporal lobe portion) and was started on keppra and dexamethasone. Representative H&E images are provided (Figures 3D-3F). No necrosis or microvascular proliferation was detected. Diagnostic immunohistochemical studies were also performed (Figure 3G- Mib1, Figure 3H- Mutant-specific antibody important in pediatric brain tumor pathology!!), as were a variety of other molecular tests. Post-operative treatment of her tumor consisted of radiation therapy with concurrent Temozolomide and Avastin Q2 weeks, followed by Avastin Q2 weeks and Temozolomide 5 days each 28 day cycle. She tolerated this therapy well, however approximately 7 months post-surgery she once again developed seizures, numbering up to 20 seizures in one 4 hour period, resulting in impatient admission. MR imaging studies noted tumor progression, with overall increase in tumor involvement of the left cerebral hemisphere as well as posterior fossa structures. She was started on dexamethasone, keppra, and clobazam. She was transferred to CCHMC and was enrolled on PBTC043. She is currently in the first cycle of treatment and is clinically stable. What is your interpretation of the MRI studies? What is the pathologic diagnosis based on histology? Based on IHC findings??

Morphological Findings (click to enlarge):

Figure 3ACoronal T1 post-contrast MRI
Figure 3BAxial FLAIR MRI
Figure 3CAxial FSE(T2) MRI
Figure 3DH&E of right temporal lobe-20x
Figure 3EH&E - 200x
Figure 3FH&E - 400x
Figure 3GMib-1 (Ki67) - 200x
Figure 3HDiagnostic Mutant-specific IHC - 400x

Case 4

Faculty:
Fausto J. Rodriguez, MD

Clinical History:

A 65 year-old male developed word-finding difficulties and increased forgetfulness for 1 week. Magnetic resonance imaging (MRI) demonstrated a 5x4.3x4 cm ring enhancing mass involving the left parieto-occipital lobes. A left sided craniotomy with resection of the mass was performed.

Pertinent Laboratory Data:

Fluorescence in situ hybridization (FISH) studies demonstrated 1p/19q co-deletion.

Morphological Findings (click to enlarge):

Figure 1H&E
Figure 2H&E
Figure 3H&E

Case 5

Faculty:
Anthony Yachnis, MD

Clinical History:

The patient is a 23 year-old male who was referred from an outside institution for evaluation. He had a several week history of progressive speech slurring. Physical examination revealed right facial weakness. The patient was otherwise well and denied any other symptoms. Past medical history and family history were unremarkable. MRI studies revealed multiple abnormal signals on the T2 weighted images with minimal contrast enhancement on T1. Lesions were noted in the anterior genu of the corpus callosum, left frontoparietal white matter, and right frontal lobe. Increased T2 signal abnormalities were also present in the bilateral thalami and left basal ganglia. There was only minimal mass effect and no herniation was seen. A stereotactic biopsy was performed.

Morphological Findings (click to enlarge):

Figure 1MRI-T1 post-contrast (left); T2 (right)
Figure 2H&E-20X
Figure 3H&E-20X
Figure 4GFAP-20X
Figure 5Ki67-20X
Figure 6P53-20X
Figure 7ATRX
Figure 8IDH1(R132H)

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