PMID- 37702439
OWN - NLM
STAT- MEDLINE
DCOM- 20240104
LR  - 20240106
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 63
IP  - 1
DP  - 2024 Jan
TI  - Complementary value of molecular analysis to expert review in refining 
      classification of uncommon soft tissue tumors.
PG  - e23196
LID - 10.1002/gcc.23196 [doi]
AB  - The classification of many soft tissue tumors remains subjective due their 
      rarity, significant overlap in microscopic features and often a non-specific 
      immunohistochemical (IHC) profile. The application of molecular genetic tools, 
      which leverage the underlying molecular pathogenesis of these neoplasms, have 
      considerably improved the diagnostic abilities of pathologists and refined 
      classification based on objective molecular markers. In this study, we describe 
      the results of an international collaboration conducted over a 3-year period, 
      assessing the added diagnostic value of applying molecular genetics to sarcoma 
      expert pathologic review in a selected series of 84 uncommon, mostly 
      unclassifiable mesenchymal tumors, 74 of which originated in soft tissues and 10 
      in bone. The case mix (71% historical, 29% contemporary) included mostly unusual 
      and challenging soft tissue tumors, which remained unclassified even with the 
      benefit of expert review and routine ancillary methods, including broad IHC 
      panels and a limited number of commercially available fluorescence in situ 
      hybridization (FISH) probes. All cases were further tested by FISH using a wide 
      range of custom bacterial artificial chromosome probes covering most of known 
      fusions in sarcomas, whereas targeted RNA sequencing was performed in 13 cases 
      negative by FISH, for potential discovery of novel fusion genes. Tumor-defining 
      molecular alterations were found in 48/84 tumors (57%). In 27 (32%) cases the 
      tumor diagnosis was refined or revised by the additional molecular work-up, 
      including five cases (6%), in which the updated diagnosis had clinical 
      implications. Sarcoma classification is rapidly evolving due to an increased 
      molecular characterization of these neoplasms, so unsurprisingly 17% of the 
      tumors in this series harbored abnormalities only very recently described as 
      defining novel molecularly defined soft tissue tumor subsets.
CI  - (c) 2023 Wiley Periodicals LLC.
FAU - Suurmeijer, Albert J H
AU  - Suurmeijer AJH
AUID- ORCID: 0000-0003-1361-9454
AD  - Department of Pathology and Medical Biology, University Medical Center Groningen, 
      University of Groningen, Groningen, The Netherlands.
FAU - Dickson, Brendan C
AU  - Dickson BC
AD  - Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, 
      Ontario, Canada.
FAU - Antonescu, Cristina R
AU  - Antonescu CR
AUID- ORCID: 0000-0002-9717-8205
AD  - Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer 
      Center, New York, New York, USA.
LA  - eng
PT  - Journal Article
DEP - 20230913
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Biomarkers, Tumor)
SB  - IM
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - *Sarcoma/diagnosis/genetics/pathology
MH  - *Soft Tissue Neoplasms/diagnosis/genetics/pathology
MH  - Biomarkers, Tumor/genetics
MH  - Sequence Analysis, RNA
OTO - NOTNLM
OT  - molecular pathology
OT  - next generation sequencing
OT  - soft tissue tumor
EDAT- 2023/09/13 12:42
MHDA- 2024/01/04 11:44
CRDT- 2023/09/13 08:33
PHST- 2023/08/06 00:00 [revised]
PHST- 2023/07/06 00:00 [received]
PHST- 2023/08/14 00:00 [accepted]
PHST- 2024/01/04 11:44 [medline]
PHST- 2023/09/13 12:42 [pubmed]
PHST- 2023/09/13 08:33 [entrez]
AID - 10.1002/gcc.23196 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2024 Jan;63(1):e23196. doi: 10.1002/gcc.23196. Epub 
      2023 Sep 13.