Format

Send to

Choose Destination
Cancer Genomics Proteomics. 2019 Nov-Dec;16(6):563-568. doi: 10.21873/cgp.20158.

Genetic Characterization of Myoid Hamartoma of the Breast.

Author information

1
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ioannis.panagopoulos@rr-research.no.
2
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
3
Department of Pathology, Oslo University Hospital, Oslo, Norway.
4
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.

Abstract

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.

KEYWORDS:

HMGA2 rearrangement; Myoid hamartoma of the breast; RNA sequencing; Sanger sequencing; chromosome translocation; cytogenetics; fluorescence in situ hybridization; reverse transcription polymerase chain reaction

PMID:
31659109
DOI:
10.21873/cgp.20158

Supplemental Content

Full text links

Icon for HighWire
Loading ...
Support Center