Sunday, August 23, 2015

Best Post of January 2015: Dr. Pierluigi Gambetti steps down as director of national prion surveillance center

The next in our "Best of the Month" series comes from January 5, 2015:


Pierluigi Gambetti, MD
Dr. Pierluigi Gambetti has stepped down as director of the National Prion Disease Pathology Surveillance Center. In a letter to members of the American Association of Neuropathologists, Dr. Gambetti writes:

"I will be resigning as Director of the National Prion Disease Pathology Surveillance Center effective January 1, 2015. I will continue to be associated with the Center in an advisory position and as consultant for special cases. Dr. Jiri Safar, Associate Professor of Pathology and Neurology at Case Western Reserve University, will be the new director."

Dr. Gambetti goes on to state that the NPDPSC "will remain unchanged", continuing to coordinate autopsies on suspected prion disease cases. Dr. Mark Cohen will continue to have primary responsibility for the histologic and immunohistochemical assessment of cases.

Saturday, August 15, 2015

College of American Pathologists Neuropathology Committee Meets this Weekend

I am delighted to be in Chicago this weekend meeting with my wonderful colleagues on the College of American Pathologists Neuropathology (CAP-NP) Committee. We are making plans for a SAM-eligible educational product that will update you on the 2015 iteration of the World Health Organization Classification of Tumors of the Central Nervous System. The new WHO book is set to be published in October of this year; and we on the committee are making plans to create a CD to be issued a year from now designed to keep you in the loop regarding the latest in CNS tumor classification. This weekend's meeting also marks the end of Dr. Dan Brat's tenure as CAP-NP chairman. Dr. Brat will  be replaced by the illustrious Dr. Eyas Hattab at the helm of the CAP-NP Committee. After a long day at work today on the CAP-NP educational product, committee members retired to Smith and Wollensky Steakhouse for some well-deserved nourishment before returning to finish up our work tomorrow. In addition to Drs. Brat, Hattab, and myself, current committee members include Drs. Bill Hickey, Joe Ma, Roger McLendon, Matthew Schneiderjan, Aaron Wagner, Cynthia Welsh, and junior member Matthew Cykowski.

Rania Hattab (wife of Dr. Eyas Hattab) and Dr. Joe Ma enjoy a morsel of chocolate cake at tonight's CAP-NP dinner

Outgoing CAP-NP committee members Dr. Dan Brat and Dr. Cynthia Welsh will be sorely missed

Wednesday, August 5, 2015

The Tumor Biomarker Series: INI1

This is the last in my tumor biomarker series -- at least until future significant biomarkers are established. I conclude this series with a short description of INI1, a marker for atypical teratoid/rhabdoid tumor (AT/RT). A clinically aggressive embryonal tumor of infancy, AT/RT is characterized by mutations in SMARCB1/INI1 (HSNF5). Immunohistochemical evaluation of AT/RT for the INI1 protein using the BAF47 antibody shows a loss of labelling in tumor cell nuclei, with retention of staining in internal positive control cells such as endothelial cells. Since AT/RT has morphologic overlap with medulloblastoma, CNS PNET, choroid plexus carcinoma, GBM, and other malignant tumors of childhood, INI1 immunohistochemistry is extremely useful in arriving at a diagnosis of AT/RT. A diagnosis of AT/RT carries implications for genetic counseling as this tumor -- in about a one-third of cases -- is a component of the rhabdoid tumor predisposition syndrome (RTPS) wherein there is a germline mutation of SMARCB1/INI1. Because of the risk associated with RTPS, the germline status of SMARCB/INI1 is typically assessed for each new case of AT/RT.

Dr. Diamandis develops network to help pathologists interface with AI computational scientists

A neuropathology colleague in Toronto (Dr. Phedias Diamandis) is developing some amazing AI-based tools for pathology and academia. He hel...