Detection of MEAF6-PHF1 translocation in an endometrial stromal nodule.
MEAF6
PHF1
endometrial stromal nodule
fusion
next generation sequencing
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
20 Aug 2020
20 Aug 2020
Historique:
received:
31
05
2020
revised:
06
08
2020
accepted:
17
08
2020
pubmed:
21
8
2020
medline:
21
8
2020
entrez:
22
8
2020
Statut:
aheadofprint
Résumé
Endometrial stromal nodule (ESN) and low-grade endometrial stromal sarcoma (LG-ESS) are rare uterine tumors known as endometrial stromal tumors (ESTs). In addition to their similarity in morphological features, recent studies have shown that these two tumors share common genetic alterations. In particular, JAZF1-SUZ12 fusion is found with high frequency in both ESN and LG-ESS. In LG-ESS, some minor fusions have also been described, which include rearrangements involving PHF1 and its partner genes, such as JAZF1, EPC1, MEAF6, BRD8, EPC2, and MBTD1. Because of the rarity of ESN, genetic alterations other than JAZF1 fusion have not been investigated in detail. In this study, we performed a next-generation sequencing-based analysis in a case of ESN with peripheral metaplastic bone formation and detected MEAF6-PHF1 fusion, which has been reported in a small subset of uterine LG-ESSs and soft tissue ossifying fibromyxoid tumors. The finding that MEAF6-PHF1 fusion is a background genetic abnormality detected both in ESN and LG-ESS, along with JAZF1-SUZ12, provides further support for the similarity and continuum between these two types of ESTs. Furthermore, the association between metaplastic bone formation and MEAF6-PHF1 fusion may not be limited to soft tissue tumors.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : JSPS KAKENHI
ID : 19K07433 [DM]
Organisme : Osaka University Program for the Support of Networking among Present and Future Researchers
Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
Tavassoli FA, Norris HJ. Mesenthymal tumors of the uterus . VII. A Clinicopathological study of 60 endometrial stromal nodules. Histopathology. 1981;5(1):1-10.
Kurman RJ, Carcangiu ML, Herrington CS, Young RH, eds. WHO Classification of Tumours of Female Reproductive Organs. 4th ed. Lyon: IARC; 2014.
Dickson BC, Childs TJ, Colgan TJ, et al. Uterine tumor resembling ovarian sex cord tumor A distinct entity characterized by recurrent NCOA2/3 gene fusions. American J Surg Pathol. 2019;43(2):178-186.
Conklin CMJ, Longacre TA. Endometrial stromal tumors: the new WHO classification. Adv Anat Pathol. 2014;21(6):383-393.
Koontz JI, Soreng AL, Nucci M, et al. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. Proc Natl Acad Sci U S A. 2001;98(11):6348-6353.
Micci F, Walter CU, Teixeira MR, et al. Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17). Cancer Genet Cytogenet. 2003;144(2):119-124.
Huang HY, Ladanyi M, Soslow RA. Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology - evidence for genetic heterogeneity. American J Surg Pathol. 2004;28(2):224-232.
Hrzenjak A, Moinfar F, Tavassoli FA, et al. JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas - molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue. J Mol Diagnos. 2005;7(3):388-395.
Micci F, Panagopoulos I, Bjerkehagen B, Heim S. Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. Cancer Res. 2006;66(1):107-112.
Oliva E, de Leval L, Soslow RA, Herens C. High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection. American J Surg Pathol. 2007;31(8):1277-1284.
Nucci MR, Harburger D, Koontz J, Dal Cin P, Sklar J. Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. American J Surg Pathol. 2007;31(1):65-70.
Kurihara S, Oda Y, Ohishi Y, et al. Endometrial stromal sarcomas and related high-grade sarcomas: immunohistochemical and molecular genetic study of 31 cases. American J Surg Pathol. 2008;32(8):1228-1238.
Kurihara S, Oda Y, Ohishi Y, et al. Coincident expression of beta-catenin and cyclin D1 in endometrial stromal tumors and related high-grade sarcomas. Mod Pathol. 2010;23(2):225-234.
Li H, Ma XY, Wang JL, Koontz J, Nucci M, Sklar J. Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival. Proc Natl Acad Sci U S A. 2007;104(50):20001-20006.
D'Angelo E, Ali RH, Espinosa I, et al. Endometrial stromal sarcomas with sex cord differentiation are associated with PHF1 rearrangement. American J Surg Pathol. 2013;37(4):514-521.
Isphording A, Ali RH, Irving J, et al. YWHAE-FAM22 endometrial stromal sarcoma: diagnosis by reverse transcription-polymerase chain reaction in formalin-fixed, paraffin-embedded tumor. Hum Pathol. 2013;44(5):837-843.
Hrzenjak A. JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas. Orphanet J Rare Dis. 2016;11:15.
Ferreira J, Felix A, Lennerz JK, Oliva E. Recent advances in the histological and molecular classification of endometrial stromal neoplasms. Virchows Arch. 2018;473(6):665-678.
Micci F, Gorunova L, Gatius S, et al. MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma. Cancer Lett. 2014;347(1):75-78.
Panagopoulos I, Micci F, Thorsen J, et al. Novel fusion of MYST/Esa1-associated factor 6 and PHF1 in endometrial stromal sarcoma. Plos One. 2012;7(6):e39354.
Antonescu CR, Sung YS, Chen CL, et al. Novel ZC3H7B-BCOR, MEAF6- PHF1, and EPC1-PHF1 fusions in ossifying Fibromyxoid tumors-molecular characterization shows genetic overlap with endometrial stromal sarcoma. Genes Chromosomes Cancer. 2014;53(2):183-193.
A Chenchik YY, Zhu L, Diatchenko R, et al. Zhu. Generation and use of high-quality cDNA from small amounts of total RNA by SMART PCR. In: Siebert PD, Larrick JW, eds. Gene Cloning and Analysis by RT-PCR. Natick, MA: BioTechniques Books; 1998:305-319.
Lin XJ, Qiu LH, Song X, Hou JY, Chen WZ, Zhao J. A comparative analysis of RNA sequencing methods with ribosome RNA depletion for degraded and low-input total RNA from formalin-fixed and paraffin-embedded samples. BMC Genomics. 2019;20(1):831.
Sarantopoulou D, Tang SY, Ricciotti E, et al. Comparative evaluation of RNA-Seq library preparation methods for strand-specificity and low input. Sci Rep. 2019;9:13477.
Panagopoulos I, Mertens F, Griffin CA. An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera. Cancer Genet Cytogenet. 2008;185(2):74-77.
Micci F, Brunetti M, Dal Cin P, et al. Fusion of the genes BRD8 and PHF1 in endometrial stromal sarcoma. Genes Chromosomes Cancer. 2017;56(12):841-845.
Han L, Liu YJ, Ricciotti RW, Mantilla JG. A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: a case report and literature review. Genes Chromosomes Cancer. 2020;59(7):428-432.
Makise N, Sekimizu M, Kobayashi E, et al. Low-grade endometrial stromal sarcoma with a novel MEAF6-SUZ12 fusion. Virchows Arch. 2019;475(4):527-531.
Gebre-Medhin S, Nord KH, Moller E, et al. Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors. American J Pathol. 2012;181(3):1069-1077.
Graham RP, Weiss SW, Sukov WR, et al. PHF1 rearrangements in ossifying Fibromyxoid tumors of soft parts A fluorescence in situ hybridization study of 41 cases with emphasis on the malignant variant. American J Surg Pathol. 2013;37(11):1751-1755.
Endo M, Kohashi K, Yamamoto H, et al. Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene. Hum Pathol. 2013;44(11):2603-2608.
Suurmeijer AJH, Song WZ, Sung YS, et al. Novel recurrent PHF1-TFE3 fusions in ossifying fibromyxoid tumors. Genes Chromosomes Cancer. 2019;58(9):643-649.
Schneider N, Fisher C, Thway K. Ossifying fibromyxoid tumor: morphology, genetics, and differential diagnosis. Ann Diagn Pathol. 2016;20:52-58.
Di Croce L, Helin K. Transcriptional regulation by Polycomb group proteins. Nat Struct Mol Biol. 2013;20(10):1147-1155.
Avvakumov N, Cote J. The MYST family of histone acetyltransferases and their intimate links to cancer. Oncogene. 2007;26(37):5395-5407.