Lan Li1, Marilyn M Bui2, Ming Zhang1, Xiaoqi Sun1, Gang Han3, Tingting Zhang1, Xiaoyuan Huang1, Yi Ding4. 1. Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College of Peking University, Beijing, China. 2. Department of Pathology, Moffitt Cancer Center, Tampa, FL, USA. 3. Department of Biostatistics, School of Public Health, Texas A&M University, Texas, USA. 4. Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College of Peking University, Beijing, China bootman@sina.com.
Abstract
GOALS: Ubiquitin specific protease 6 (USP6) gene rearrangement has been reported in approximately 70%-75% of aneurysmal bone cyst cases. We hypothesize that fluorescence in situ hybridization (FISH) testing of this marker will be useful in the pathological differentiation of primary aneurysmal bone cyst (ABC), secondary ABC, giant cell tumor of bone (GCT), and telangiectatic osteosarcoma (TOS) which are morphologically similar. This study aims to evaluate the efficacy of this test and validate it for diagnostic use. PROCEDURES: FISH was performed in primary ABC, secondary ABC, GCT and TOS using dual color USP6 gene break apart probes. The sensitivity, specificity, positive predictive value, and negative predictive values were calculated. RESULTS: Primary ABC demonstrates USP6 rearrangement. All secondary ABC, GCT and TOS were negative. The test sensitivity and specificity in primary ABC were 53% (9/17) and 100% (18/18), respectively. The positive predictive value and negative predictive value were 100% (9/9) and 69% (18/26), respectively. CONCLUSION: The USP6 gene break apart detected by FISH is validated as a novel diagnostic tool for primary ABC in our laboratory. This test could be used to study the predictive value of USP6 targeted therapy for primary ABC in the near future.
GOALS: Ubiquitin specific protease 6 (USP6) gene rearrangement has been reported in approximately 70%-75% of aneurysmal bone cyst cases. We hypothesize that fluorescence in situ hybridization (FISH) testing of this marker will be useful in the pathological differentiation of primary aneurysmal bone cyst (ABC), secondary ABC, giant cell tumor of bone (GCT), and telangiectatic osteosarcoma (TOS) which are morphologically similar. This study aims to evaluate the efficacy of this test and validate it for diagnostic use. PROCEDURES: FISH was performed in primary ABC, secondary ABC, GCT and TOS using dual color USP6 gene break apart probes. The sensitivity, specificity, positive predictive value, and negative predictive values were calculated. RESULTS: Primary ABC demonstrates USP6 rearrangement. All secondary ABC, GCT and TOS were negative. The test sensitivity and specificity in primary ABC were 53% (9/17) and 100% (18/18), respectively. The positive predictive value and negative predictive value were 100% (9/9) and 69% (18/26), respectively. CONCLUSION: The USP6 gene break apart detected by FISH is validated as a novel diagnostic tool for primary ABC in our laboratory. This test could be used to study the predictive value of USP6 targeted therapy for primary ABC in the near future.
Authors: Nils Deventer; Martin Schulze; Georg Gosheger; Marieke de Vaal; Niklas Deventer Journal: Cancers (Basel) Date: 2021-05-14 Impact factor: 6.639