PMID- 32439322 OWN - NLM STAT- MEDLINE DCOM- 20210212 LR - 20210212 IS - 1532-8392 (Electronic) IS - 0046-8177 (Linking) VI - 101 DP - 2020 Jul TI - Dysplastic lipoma: potential diagnostic pitfall of using MDM2 RNA in situ hybridization to distinguish between lipoma and atypical lipomatous tumor. PG - 53-57 LID - S0046-8177(20)30097-6 [pii] LID - 10.1016/j.humpath.2020.05.004 [doi] AB - The distinction between lipoma and atypical lipomatous tumor can be challenging in some cases. While detection of MDM2 gene amplification via fluorescence in situ hybridization (FISH) has been well established as a diagnostic tool to distinguish atypical lipomatous tumor and well-differentiated liposarcoma from benign mimics, MDM2 RNA in situ hybridization (RNA-ISH) has recently been proposed as an alternative diagnostic assay. During clinical workup for lipomatous tumors using MDM2 RNA-ISH, we noticed several dysplastic lipomas that were positive for MDM2 RNA-ISH but negative for MDM2 amplification by FISH. In this study, we examined a series of 11 dysplastic lipomas, all confirmed to be negative for MDM2 amplification by FISH. Positive MDM2 RNA-ISH was noted in 10 (91%) dysplastic lipomas. Single-nucleotide polymorphism array on one dysplastic lipoma identified the presence of homozygous deletion of 13q, including the RB1 gene locus with no evidence of MDM2 copy number gain. Our findings on the discordance between MDM2 FISH and MDM2 RNA-ISH highlight the potential utility and pitfalls of using MDM2 RNA-ISH in the distinction of atypical lipomatous tumor and related liposarcomas from dysplastic lipoma. CI - Copyright (c) 2020 Elsevier Inc. All rights reserved. FAU - Hung, Yin P AU - Hung YP AD - Department of Pathology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, MA, 02114, United States. Electronic address: yphung@mgh.harvard.edu. FAU - Michal, Michael AU - Michal M AD - Department of Pathology, Faculty of Medicine in Plzen, Charles University, Plzen, 32300, Czech Republic; Biomedical Center, Faculty of Medicine in Plzen, Charles University, Plzen, 32300, Czech Republic. Electronic address: michael.michal@biopticka.cz. FAU - Dubuc, Adrian M AU - Dubuc AM AD - Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, United States. FAU - Rosenberg, Andrew E AU - Rosenberg AE AD - Department of Pathology and Laboratory Medicine, Miller School of Medicine, University of Miami, Miami, FL, 33136, United States. Electronic address: ARosenberg@med.miami.edu. FAU - Nielsen, G Petur AU - Nielsen GP AD - Department of Pathology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, MA, 02114, United States. Electronic address: gnielsen@mgh.harvard.edu. LA - eng PT - Journal Article DEP - 20200518 PL - United States TA - Hum Pathol JT - Human pathology JID - 9421547 RN - 0 (Biomarkers, Tumor) RN - 63231-63-0 (RNA) RN - EC 2.3.2.27 (MDM2 protein, human) RN - EC 2.3.2.27 (Proto-Oncogene Proteins c-mdm2) SB - IM MH - Adult MH - Aged MH - Biomarkers, Tumor/*analysis MH - Diagnosis, Differential MH - Female MH - Gene Amplification MH - Humans MH - In Situ Hybridization/*methods MH - Lipoma/*diagnosis/genetics MH - Liposarcoma/*diagnosis/genetics MH - Male MH - Middle Aged MH - Proto-Oncogene Proteins c-mdm2/*analysis/genetics MH - RNA/analysis MH - Young Adult OTO - NOTNLM OT - Anisometric lipoma OT - Atypical lipomatous tumor OT - Dysplastic lipoma OT - In situ hybridization OT - MDM2 EDAT- 2020/05/23 06:00 MHDA- 2021/02/13 06:00 CRDT- 2020/05/23 06:00 PHST- 2020/03/17 00:00 [received] PHST- 2020/05/02 00:00 [revised] PHST- 2020/05/06 00:00 [accepted] PHST- 2020/05/23 06:00 [pubmed] PHST- 2021/02/13 06:00 [medline] PHST- 2020/05/23 06:00 [entrez] AID - S0046-8177(20)30097-6 [pii] AID - 10.1016/j.humpath.2020.05.004 [doi] PST - ppublish SO - Hum Pathol. 2020 Jul;101:53-57. doi: 10.1016/j.humpath.2020.05.004. Epub 2020 May 18.