Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors.

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Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors. / Gebre-Medhin, Samuel; Hansén Nord, Karolin; Möller, Emely; Mandahl, Nils; Magnusson, Linda; Nilsson, Jenny; Jo, Vickie Y; Vult von Steyern, Fredrik; Brosjö, Otte; Larsson, Olle; Domanski, Henryk; Sciot, Raf; Debiec-Rychter, Maria; Fletcher, Christopher D M; Mertens, Fredrik.

I: American Journal of Pathology, Vol. 181, Nr. 3, 2012, s. 1069-1077.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Harvard

Gebre-Medhin, S, Hansén Nord, K, Möller, E, Mandahl, N, Magnusson, L, Nilsson, J, Jo, VY, Vult von Steyern, F, Brosjö, O, Larsson, O, Domanski, H, Sciot, R, Debiec-Rychter, M, Fletcher, CDM & Mertens, F 2012, 'Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors.', American Journal of Pathology, vol. 181, nr. 3, s. 1069-1077. https://doi.org/10.1016/j.ajpath.2012.05.030

APA

CBE

Gebre-Medhin S, Hansén Nord K, Möller E, Mandahl N, Magnusson L, Nilsson J, Jo VY, Vult von Steyern F, Brosjö O, Larsson O, Domanski H, Sciot R, Debiec-Rychter M, Fletcher CDM, Mertens F. 2012. Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors. American Journal of Pathology. 181(3):1069-1077. https://doi.org/10.1016/j.ajpath.2012.05.030

MLA

Vancouver

Author

Gebre-Medhin, Samuel ; Hansén Nord, Karolin ; Möller, Emely ; Mandahl, Nils ; Magnusson, Linda ; Nilsson, Jenny ; Jo, Vickie Y ; Vult von Steyern, Fredrik ; Brosjö, Otte ; Larsson, Olle ; Domanski, Henryk ; Sciot, Raf ; Debiec-Rychter, Maria ; Fletcher, Christopher D M ; Mertens, Fredrik. / Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors. I: American Journal of Pathology. 2012 ; Vol. 181, Nr. 3. s. 1069-1077.

RIS

TY - JOUR

T1 - Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors.

AU - Gebre-Medhin, Samuel

AU - Hansén Nord, Karolin

AU - Möller, Emely

AU - Mandahl, Nils

AU - Magnusson, Linda

AU - Nilsson, Jenny

AU - Jo, Vickie Y

AU - Vult von Steyern, Fredrik

AU - Brosjö, Otte

AU - Larsson, Olle

AU - Domanski, Henryk

AU - Sciot, Raf

AU - Debiec-Rychter, Maria

AU - Fletcher, Christopher D M

AU - Mertens, Fredrik

N1 - The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000), Department of Orthopaedics (Lund) (013028000), Division of Clinical Genetics (013022003)

PY - 2012

Y1 - 2012

N2 - Ossifying fibromyxoid tumor (OFMT) is a soft tissue tumor of unknown lineage. Although most cases are histologically and clinically benign, some show malignant morphological features and local recurrences are not uncommon; a few may even metastasize. In the present study, cytogenetic analysis identified different structural rearrangements of chromosome band 6p21 in tumor cells from three cases of OFMT, including one with typical, one with atypical, and one with malignant morphological features. Mapping of the 6p21 breakpoint by fluorescence in situ hybridization (FISH) indicated that the PHF1 gene was rearranged in all three cases. Further FISH, 5'-rapid amplification of cDNA ends, and RT-PCR analyses disclosed an EP400/PHF1 fusion transcript in one of the cases. Interphase FISH on tumor sections from 13 additional cases of OFMT showed rearrangement of the PHF1 locus in four of four typical, two of three atypical, and one of six malignant lesions. Thus, the PHF1 gene, previously shown to be the 3'-partner of fusion genes in endometrial stromal tumors, is also recurrently involved in the pathogenesis of OFMTs, irrespective of whether they are diagnosed as typical, atypical, or malignant lesions. The PHF1 protein interacts with the polycomb-repressive complex 2 (PRC2), which, in turn, regulates the expression of a variety of developmental genes. Thus, the results indicate that deregulation of PRC2 target genes is crucial for OFMT development.

AB - Ossifying fibromyxoid tumor (OFMT) is a soft tissue tumor of unknown lineage. Although most cases are histologically and clinically benign, some show malignant morphological features and local recurrences are not uncommon; a few may even metastasize. In the present study, cytogenetic analysis identified different structural rearrangements of chromosome band 6p21 in tumor cells from three cases of OFMT, including one with typical, one with atypical, and one with malignant morphological features. Mapping of the 6p21 breakpoint by fluorescence in situ hybridization (FISH) indicated that the PHF1 gene was rearranged in all three cases. Further FISH, 5'-rapid amplification of cDNA ends, and RT-PCR analyses disclosed an EP400/PHF1 fusion transcript in one of the cases. Interphase FISH on tumor sections from 13 additional cases of OFMT showed rearrangement of the PHF1 locus in four of four typical, two of three atypical, and one of six malignant lesions. Thus, the PHF1 gene, previously shown to be the 3'-partner of fusion genes in endometrial stromal tumors, is also recurrently involved in the pathogenesis of OFMTs, irrespective of whether they are diagnosed as typical, atypical, or malignant lesions. The PHF1 protein interacts with the polycomb-repressive complex 2 (PRC2), which, in turn, regulates the expression of a variety of developmental genes. Thus, the results indicate that deregulation of PRC2 target genes is crucial for OFMT development.

U2 - 10.1016/j.ajpath.2012.05.030

DO - 10.1016/j.ajpath.2012.05.030

M3 - Article

VL - 181

SP - 1069

EP - 1077

JO - American Journal of Pathology

T2 - American Journal of Pathology

JF - American Journal of Pathology

SN - 1525-2191

IS - 3

ER -