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Novel Fusion Ktn1-Prkd1 In Cribriform Adenocarcinoma Of Salivary Glands Located In The Parotid Gland: Case Report Including Cytologic Findings, Treeva K. Jassim, T. Sheng, Shulin Zhang, Sainan Wei, Susanne M. Arnold, Alexandra E. Kejner, Therese J. Bocklage, Julie C. Dueber Mar 2021

Novel Fusion Ktn1-Prkd1 In Cribriform Adenocarcinoma Of Salivary Glands Located In The Parotid Gland: Case Report Including Cytologic Findings, Treeva K. Jassim, T. Sheng, Shulin Zhang, Sainan Wei, Susanne M. Arnold, Alexandra E. Kejner, Therese J. Bocklage, Julie C. Dueber

Pathology and Laboratory Medicine Faculty Publications

Background
Cribriform adenocarcinoma of salivary glands (CASG) is a rare, predominantly minor salivary gland tumor first described in 1999. Because the tumor shares morphologic and molecular features with polymorphous adenocarcinoma (PAC), in 2017, the World Health Organization (WHO) included CASG within the spectrum of PAC. Almost 75% of CASG harbor molecular alterations in the PRKD (Protein kinase D) gene family, and some cases show ARID1A (AT-rich interaction domain 1A)-PRKD1 or DDX3X (DEAD-Box Helicase 3 X-Linked)-PRKD1 fusions.

Case presentation
A 39-year-old man presented with headache and painless right cheek mass of two years duration. Imaging showed a well-circumscribed, …


Tumor Heterogeneity As A Predictor Of Response To Neoadjuvant Chemotherapy In Locally Advanced Rectal Cancer, Alissa Greenbaum, David R. Martin, Therese J. Bocklage, Ji-Hyun Lee, Scott A. Ness, Ashwani Rajput Jun 2019

Tumor Heterogeneity As A Predictor Of Response To Neoadjuvant Chemotherapy In Locally Advanced Rectal Cancer, Alissa Greenbaum, David R. Martin, Therese J. Bocklage, Ji-Hyun Lee, Scott A. Ness, Ashwani Rajput

Pathology and Laboratory Medicine Faculty Publications

BACKGROUND: Neoadjuvant chemoradiotherapy (nCRT) is the standard of care for locally advanced adenocarcinoma of the rectum, but it is currently unknown which patients have disease that will respond. This study tested the correlation between response to nCRT and intratumoral heterogeneity using next-generation sequencing assays.

PATIENTS AND METHODS: DNA was extracted from formalin-fixed, paraffin-embedded biopsy samples from a cohort of patients with locally advanced rectal adenocarcinoma (T3/4 or N1/2 disease) who received nCRT. High read-depth sequencing of > 400 cancer-relevant genes was performed. Tumor mutations and variant allele frequencies were used to calculate mutant-allele tumor heterogeneity (MATH) scores as measures of intratumoral …