PMID- 37499055
OWN - NLM
STAT- MEDLINE
DCOM- 20231204
LR  - 20231216
IS  - 1943-7722 (Electronic)
IS  - 0002-9173 (Linking)
VI  - 160
IP  - 6
DP  - 2023 Dec 1
TI  - Lessons from 801 clinical TFE3/TFEB fluorescence in situ hybridization assays 
      performed on renal cell carcinoma suspicious for MiTF family aberrations.
PG  - 549-554
LID - 10.1093/ajcp/aqad089 [doi]
AB  - OBJECTIVES: Fluorescence in situ hybridization (FISH) assays for the detection of 
      chromosomal rearrangements involving TFE3 and TFEB are considered the gold 
      standard for the diagnosis of MiTF family altered renal cell carcinoma 
      (MiTF-RCC). We reviewed 801 clinical TFE3/TFEB FISH assays performed at our 
      tertiary-level institution between 2014 and 2023 on kidney tumors suspicious at 
      the morphologic or biomarker level for MiTF aberrations. METHODS: We summarized 
      and analyzed clinical information, TFE3/TFEB FISH results, and available 
      biomarker staining results in a cohort of 453 consecutive kidney tumor cases 
      suspicious for MiTF-RCC. RESULTS: In total, 61 of 434 (14%) kidney tumors were 
      confirmed for TFE3 translocation; 10 of 367 cases (2.7%) were confirmed for TFEB 
      translocation. Since TFEB amplification interpretation was implemented in our 
      service line, 20 of 306 cases (6.5%) were diagnosed with TFEB amplification. 
      Importantly, TFE3 and TFEB rearrangements were never co-detected within the same 
      kidney tumor. Patients with TFEB amplification were significantly older (P < 
      .001) than patients with TFE3 or TFEB translocation. Kidney tumors with TFEB 
      amplification were seen to be at least 3 times as common as those with TFEB 
      translocation. CONCLUSIONS: Clinical TFE3/TFEB FISH assays successfully 
      identified and confirmed rare MiTF-RCC with TFE3 and TFEB rearrangements. 
      Although morphologic and biomarker features associated with a kidney tumor may be 
      suggestive of MiTF-RCC, clinical TFE3/TFEB FISH assays are crucial for a 
      confirmation and definitive subclassification of patients with MiTF-RCC.
CI  - (c) The Author(s) 2023. Published by Oxford University Press on behalf of American 
      Society for Clinical Pathology. All rights reserved. For permissions, please 
      e-mail: journals.permissions@oup.com.
FAU - Wang, Xiao-Ming
AU  - Wang XM
AD  - Department of Pathology, Ann Arbor, MI, US.
AD  - Michigan Center for Translational Pathology, Ann Arbor, MI, US.
FAU - Shao, Lina
AU  - Shao L
AD  - Department of Pathology, Ann Arbor, MI, US.
FAU - Xiao, Hong
AU  - Xiao H
AD  - Department of Pathology, Ann Arbor, MI, US.
FAU - Myers, Jeffrey L
AU  - Myers JL
AD  - Department of Pathology, Ann Arbor, MI, US.
FAU - Pantanowitz, Liron
AU  - Pantanowitz L
AD  - Department of Pathology, Ann Arbor, MI, US.
AD  - Department of Pathology, University of Pittsburgh, Pittsburgh, PA, US.
FAU - Skala, Stephanie L
AU  - Skala SL
AD  - Department of Pathology, Ann Arbor, MI, US.
AD  - Rogel Cancer Center, Michigan Medicine, Ann Arbor, MI, US.
FAU - Udager, Aaron M
AU  - Udager AM
AUID- ORCID: 0000-0002-8254-5404
AD  - Department of Pathology, Ann Arbor, MI, US.
FAU - Vaishampayan, Ulka
AU  - Vaishampayan U
AD  - Rogel Cancer Center, Michigan Medicine, Ann Arbor, MI, US.
AD  - Internal Medicine, Ann Arbor, MI, US.
FAU - Mannan, Rahul
AU  - Mannan R
AD  - Department of Pathology, Ann Arbor, MI, US.
AD  - Michigan Center for Translational Pathology, Ann Arbor, MI, US.
FAU - Dhanasekaran, Saravana M
AU  - Dhanasekaran SM
AD  - Department of Pathology, Ann Arbor, MI, US.
AD  - Michigan Center for Translational Pathology, Ann Arbor, MI, US.
FAU - Chinnaiyan, Arul M
AU  - Chinnaiyan AM
AD  - Department of Pathology, Ann Arbor, MI, US.
AD  - Michigan Center for Translational Pathology, Ann Arbor, MI, US.
AD  - Rogel Cancer Center, Michigan Medicine, Ann Arbor, MI, US.
AD  - Urology, University of Michigan Medical School, Ann Arbor, MI, US.
AD  - Howard Hughes Medical Institute, Ann Arbor, MI, US.
FAU - Betz, Bryan L
AU  - Betz BL
AD  - Department of Pathology, Ann Arbor, MI, US.
FAU - Brown, Noah
AU  - Brown N
AD  - Department of Pathology, Ann Arbor, MI, US.
FAU - Mehra, Rohit
AU  - Mehra R
AD  - Department of Pathology, Ann Arbor, MI, US.
AD  - Michigan Center for Translational Pathology, Ann Arbor, MI, US.
AD  - Rogel Cancer Center, Michigan Medicine, Ann Arbor, MI, US.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Am J Clin Pathol
JT  - American journal of clinical pathology
JID - 0370470
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (TFE3 protein, human)
RN  - 0 (TFEB protein, human)
SB  - IM
MH  - Humans
MH  - *Carcinoma, Renal Cell/diagnosis/genetics/metabolism
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics
MH  - Translocation, Genetic
MH  - *Kidney Neoplasms/diagnosis/genetics/metabolism
MH  - Biomarkers, Tumor/genetics
OTO - NOTNLM
OT  - MiTF
OT  - TFE3
OT  - TFEB
OT  - TRIM63
OT  - FISH
OT  - RNA in situ hybridization
OT  - amplification
OT  - fluorescent in situ hybridization
OT  - next-generation sequencing
OT  - renal cell carcinoma
OT  - translocation
EDAT- 2023/07/27 19:10
MHDA- 2023/12/04 12:42
CRDT- 2023/07/27 14:13
PHST- 2023/04/06 00:00 [received]
PHST- 2023/06/29 00:00 [accepted]
PHST- 2023/12/04 12:42 [medline]
PHST- 2023/07/27 19:10 [pubmed]
PHST- 2023/07/27 14:13 [entrez]
AID - 7232443 [pii]
AID - 10.1093/ajcp/aqad089 [doi]
PST - ppublish
SO  - Am J Clin Pathol. 2023 Dec 1;160(6):549-554. doi: 10.1093/ajcp/aqad089.