Disclosures. The Thin Red Line Between Neuropathology and Head & Neck Pathology. Introduction CASE 1. Current Issues Tihan

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1 Disclosures I have nothing to disclose The Thin Red Line Between Neuropathology and Head & Neck Pathology Tarik Tihan, MD, PhD UCSF, Department of Pathology Neuropathology Division Introduction Three cases that straddle the boundary between Neuropathology and Head & Neck Pathology Importance of recognizing different perspectives that are often complementary in reaching the correct diagnosis The importance of thinking out of the box of a specific subspecialty Recognition of the differences in the literature from different subspecialties, and the need to reconcile these differences in real life CASE 1 Dear Doctor I had the pleasure of evaluating this patient, a very pleasant 73-year-old male who has a history of nasal congestion for years. In November 2007, he developed some epistaxis for which he went to the emergency room and a workup revealed a suggestion of sinusitis on CT scan. He was referred to Dr. from Otolaryngology who found an intranasal mass and performed a biopsy on February The biopsy was consistent with esthesioneuroblastoma. He was referred to UCSF for surgical resection with a plan for postoperative radiation therapy. Past medical history includes diabetes and abnormal electrocardiogram. 1

2 AXIAL T1-gad AXIAL T1-gad Smear Frozen 2

3 Frozen 3

4 Synaptophysin Chromogranin MIB-1 BUT WAIT!!! ISN T THERE ANYTHING UNUSUAL HERE? 4

5 Cytokeratin ACTH Answer Case 1= Pituitary Adenoma Clinical: Typical visual field defect and endocrinological symptoms are helpful if present. Often a long-standing clinical history Radiological: Involvement of the sella turcica and sphenoid prior to nasal or ethmoid involvement Histological: Ample, sometimes clear cytoplasm, rare mitoses. Otherwise similar to carcinoid tumors Immunohistochemistry: CHR, SYN, Pituitary Transcription Factors or Hormones FEATURE Lobular pattern Uniform nuclei Mitotic Figures Pituitary Adenoma Olfactory Neuroblastoma Low Grade Olfactory Neuroblastoma High Grade Sinonasal Undifferentiated Carcinoma Common Common Focal or Rare Rare Typical Typical Focal or Absent Absent Rare Rare Frequent Frequent Necrosis Absent Absent Rare Frequent Rosettes Absent Present Rare/Absent Absent 5

6 FEATURE Cytokeratins Pituitary Adenoma Mostly Positive Olfactory Neuroblastoma Low Grade Olfactory Neuroblastoma High Grade Sinonasal Undifferentiated Carcinoma Negative Negative Positive S100 protein Negative Positive Positive/focal Negative/Rare NSE Positive Positive Positive Positive (50%) PIT1/SF- 1/TPIT Or Pit Hormones Positive Negative Negative Negative Follow-up 7 years later Dear Doctor I am delighted to report that the MRI showed no evidence whatsoever of a recurrent pituitary tumor. This is excellent news! I would recommend that you repeat the MRI again in two years. You could work with at to make the arrangements for the follow-up MRI and the appointment. Synaptophysin Positive Positive Positive/Focal Negative Chromogranin Often positive Often positive Occasionally positive Rare positive cells CASE 2 A 21 year old man presented with dysphagia and a change in his voice. He has also lost 15 lb over the last few months. An MRI revealed a cervical mass. He underwent a biopsy of the lesion, followed by a radical resection. The tumor appeared to have encased the vertebral artery and involved the neural foramen and partially compressed the cervical spinal cord. 6

7 SAGITTAL T2 AXIAL T1-gad 7

8 8

9 AE1-AE3 CAM5.2 EMA Brachyury 9

10 Brachyury Answer Case 2 = Chordoma Most common location sacrum, followed by skull base/clivus Midline with contrast enhancement Epithelial differentiation, typically EMA positive, and also cytokeratin positive S100 protein often strongly positive along with Vimentin Brachyury is the marker of choice for the diagnosis of Chordomas FEATURES CHORDOMA CHONDROSARCOMA Localization Midline Clivus Lateralized, Temporal bone Physalliphorous cells YES NO Cytokeratin Positive Negative S100 protein Positive Positive EMA Positive Negative Brachyury Positive Negative IDH1 or IDH2 mutations Absent Present 10

11 CASE 3 A 43-year-old man presented with significant weight loss, postural instability and difficulty in walking. He also suffered from occasional nausea and vomiting. A recent audiogram demonstrated left severe mixed hearing loss. An MRI revealed a mass that distorted the fourth ventricle with significant hydrocephalus. 11

12 Current 5/21/2015 Issues Tihan Trichrome Type IV Collagen EMA 12

13 Current 5/21/2015 Issues Tihan CD34 BCL-2 STAT6 BUT WAIT!!! ISN T THERE ANYTHING UNUSUAL HERE? 13

14 Answer Case 2 = Solitary Fibrous Tumor Unification FEATURE Solitary Fibrous Tumor Hemangiopericytoma Collagen-rich YES NO HPC-like vasculature YES YES Reticulin Stain Focal positive & vascular pattern Strongly positive CD34 staining Diffuse Strong Focal or Negative BCL-2 staining Diffuse Strong Diffuse Strong STAT-6 staining Diffuse Strong (nuclear) Diffuse Strong (nuclear) Biphasic architecture Common Uncommon Local Recurrence Rare Common (~60%) Extracranial metastasis Exceptional Common (~30%) NAB2/STAT6 fusion YES (ex4-ex6 fusion)* YES (ex6-ex16 fusion)* 14

15 THANK YOU 15