PMID- 31659109 OWN - NLM STAT- MEDLINE DCOM- 20200311 LR - 20200311 IS - 1790-6245 (Electronic) IS - 1109-6535 (Print) IS - 1109-6535 (Linking) VI - 16 IP - 6 DP - 2019 Nov-Dec TI - Genetic Characterization of Myoid Hamartoma of the Breast. PG - 563-568 LID - 10.21873/cgp.20158 [doi] AB - BACKGROUND/AIM: Myoid hamartoma of the breast is a very rare benign lesion of which only a few cases have been reported. The pathogenesis is unknown and nothing is known about its genetic constitution. We report here the genetic characterization of a myoid hamartoma of the breast. MATERIALS AND METHODS: Cytogenetic, fluorescence in situ hybridization (FISH), RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing analyses were performed on a myoid hamartoma of the breast. RESULTS: G-Banding analysis of short-term cultured tumor cells yielded the karyotype 46,XX,t(5;12)(p13;q14)[6]/46,XX[4]. FISH showed rearrangement of the high mobility group AT-hook 2 (HMGA2) gene. RNA sequencing detected fusion of HMGA2 (12q14) with a sequence from 5p13. RT-PCR together with Sanger sequencing verified the HMGA2-fusion transcript. CONCLUSION: Myoid hamartoma of the breast may be pathogenetically related to benign connective tissue tumors with HMGA2 rearrangements, such as pulmonary hamartomas, lipomas, myolipomas, and leiomyomas. CI - Copyright(c) 2019, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved. FAU - Panagopoulos, Ioannis AU - Panagopoulos I AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ioannis.panagopoulos@rr-research.no. FAU - Gorunova, Ludmila AU - Gorunova L AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. FAU - Andersen, Hege Kilen AU - Andersen HK AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. FAU - Pedersen, Thomas Dahl AU - Pedersen TD AD - Department of Pathology, Oslo University Hospital, Oslo, Norway. FAU - Lomo, Jon AU - Lomo J AD - Department of Pathology, Oslo University Hospital, Oslo, Norway. FAU - Lund-Iversen, Marius AU - Lund-Iversen M AD - Department of Pathology, Oslo University Hospital, Oslo, Norway. FAU - Micci, Francesca AU - Micci F AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. FAU - Heim, Sverre AU - Heim S AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. AD - Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway. LA - eng PT - Clinical Trial PT - Journal Article PL - Greece TA - Cancer Genomics Proteomics JT - Cancer genomics & proteomics JID - 101188791 RN - 0 (HMGA2 Protein) RN - 0 (HMGA2 protein, human) SB - IM MH - *Abnormal Karyotype MH - Breast Neoplasms/*genetics/pathology MH - Chromosomes, Human/*genetics MH - Female MH - HMGA2 Protein/*genetics MH - Hamartoma/*genetics/pathology MH - Humans MH - In Situ Hybridization, Fluorescence PMC - PMC6885368 OTO - NOTNLM OT - HMGA2 rearrangement OT - Myoid hamartoma of the breast OT - RNA sequencing OT - Sanger sequencing OT - chromosome translocation OT - cytogenetics OT - fluorescence in situ hybridization OT - reverse transcription polymerase chain reaction COIS- The authors declare that they have no potential conflicts of interest in regard to this study. EDAT- 2019/10/30 06:00 MHDA- 2020/03/12 06:00 PMCR- 2019/11/03 CRDT- 2019/10/30 06:00 PHST- 2019/08/31 00:00 [received] PHST- 2019/09/23 00:00 [revised] PHST- 2019/09/26 00:00 [accepted] PHST- 2019/10/30 06:00 [entrez] PHST- 2019/10/30 06:00 [pubmed] PHST- 2020/03/12 06:00 [medline] PHST- 2019/11/03 00:00 [pmc-release] AID - 16/6/563 [pii] AID - 10.21873/cgp.20158 [doi] PST - ppublish SO - Cancer Genomics Proteomics. 2019 Nov-Dec;16(6):563-568. doi: 10.21873/cgp.20158.