Updates on the cytogenetics and molecular cytogenetics of benign and intermediate soft tissue tumors (Review)
- Authors:
- Jun Nishio
-
Affiliations: Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka 814-0180, Japan - Published online on: October 30, 2012 https://doi.org/10.3892/ol.2012.1002
- Pages: 12-18
This article is mentioned in:
Abstract
Fletcher CDM, Unni KK and Mertens F: World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press; Lyon, France: 2002 | |
Bridge JA and Cushman-Vokoun AM: Molecular diagnostics of soft tissue tumors. Arch Pathol Lab Med. 135:588–601. 2011.PubMed/NCBI | |
Weiss SW and Goldblum JR: Enzinger and Weiss’s: Soft Tissue Tumors. Mosby; Philadelphia: 2008 | |
Sawyer JR, Sammartino G, Baker GF and Bell JM: Clonal chromosome aberrations in a case of nodular fasciitis. Cancer Genet Cytogenet. 76:154–156. 1994. View Article : Google Scholar : PubMed/NCBI | |
Birdsall SH, Shipley JM, Summersgill BM, et al: Cytogenetic findings in a case of nodular fasciitis of the breast. Cancer Genet Cytogenet. 81:166–168. 1995. View Article : Google Scholar : PubMed/NCBI | |
Weibolt VM, Buresh CJ, Roberts CA, et al: Involvement of 3q21 in nodular fasciitis. Cancer Genet Cytogenet. 106:177–179. 1998. View Article : Google Scholar : PubMed/NCBI | |
Donner LR, Silva T and Dobin SM: Clonal rearrangement of 15p11.2, 16p11.2 and 16p13.3 in a case of nodular fasciitis: additional evidence favoring nodular fasciitis as a benign neoplasm and not a reactive tumefaction. Cancer Genet Cytogenet. 139:138–140. 2002. View Article : Google Scholar | |
Velagaleti GVN, Tapper JK, Panova NE, Miettinen M and Gatalica Z: Cytogenetic findings in a case of nodular fasciitis of subclavicular region. Cancer Genet Cytogenet. 141:160–163. 2003. View Article : Google Scholar : PubMed/NCBI | |
Meng GZ, Zhang HY, Zhang Z, Wei B and Bu H: Myofibroblastic sarcoma vs nodular fasciitis: a comparative study of chromosomal imbalances. Am J Clin Pathol. 131:701–709. 2009. View Article : Google Scholar : PubMed/NCBI | |
Bacac M, Migliavacca E, Stehle JC, et al: A gene expression signature that distinguishes desmoid tumours from nodular fasciitis. J Pathol. 208:543–553. 2006. View Article : Google Scholar : PubMed/NCBI | |
Erickson-Johnson MR, Chou MM, Evers BR, et al: Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Lab Invest. 91:1427–1433. 2011. View Article : Google Scholar : PubMed/NCBI | |
Oliveira AM, Hsi BL, Weremowicz S, et al: USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res. 64:1920–1923. 2004. View Article : Google Scholar : PubMed/NCBI | |
Sukov WR, Franco MF, Erickson-Johnson M, et al: Frequency of USP6 rearrangements in myositis ossificans, brown tumor and cherubism: molecular cytogenetic evidence that a subset of ‘myositis ossificans-like lesions’ are the early phases in the formation of soft-tissue aneurysmal bone cyst. Skeletal Radiol. 37:321–327. 2008.PubMed/NCBI | |
Thway K, Flora RS and Fisher C: Chondroid lipoma: an update and review. Ann Diagn Pathol. 16:230–234. 2012. View Article : Google Scholar : PubMed/NCBI | |
Nishio J: Contributions of cytogenetics and molecular cytogenetics to the diagnosis of adipocytic tumors. J Biomed Biotechnol 2011. 5240672011.PubMed/NCBI | |
Nishio J, Iwasaki H, Nabeshima K and Naito M: Cytogenetics and molecular genetics of myxoid soft-tissue sarcomas. Genet Res Int. 2011:4971482011.PubMed/NCBI | |
Gisselsson D, Domanski HA, Höglund M, et al: Unique cytological features and chromosome aberrations in chondroid lipoma: a case report based on fine-needle aspiration cytology, histopathology, electron microscopy, chromosome banding and molecular cytogenetics. Am J Surg Pathol. 23:1300–1304. 1999. View Article : Google Scholar | |
Thomson TA, Horsman D and Bainbridge TC: Cytogenetic and cytologic features of chondroid lipoma of soft tissue. Mod Pathol. 12:88–91. 1999.PubMed/NCBI | |
Ballaux F, Debiec-Rychter M, De Wever I and Sciot R: Chondroid lipoma is characterized by t(11;16)(q13;p12–13). Virchows Arch. 444:208–210. 2004.PubMed/NCBI | |
Huang D, Sumegi J, Dal Cin P, et al: C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. Genes Chromosomes Cancer. 49:810–818. 2010.PubMed/NCBI | |
Evans HL: Desmoplastic fibroblastoma: a report of seven cases. Am J Surg Pathol. 19:1077–1081. 1995. View Article : Google Scholar | |
Magro G and Venti C: Childhood desmoplastic fibroblastoma (collagenous fibroma) with a 12-year follow-up. Pediatr Dev Pathol. 2:62–64. 1999.PubMed/NCBI | |
Nishio J, Iwasaki H, Nishijima T and Kikuchi M: Collagenous fibroma (desmoplastic fibroblastoma) of the finger in a child. Pathol Int. 52:322–325. 2002. View Article : Google Scholar : PubMed/NCBI | |
Sciot R, Samson I, Van Den Berghe H, Van Damme B and Dal Cin P: Collagenous fibroma (desmoplastic fibroblastoma): genetic link with fibroma of tendon sheath? Mod Pathol. 12:565–568. 1999.PubMed/NCBI | |
Bernal K, Nelson M, Neff JR, Nielsen SM and Bridge JA: Translocation (2;11)(q31;q12) is recurrent in collagenous fibroma (desmoplastic fibroblastoma). Cancer Genet Cytogenet. 149:161–163. 2004. View Article : Google Scholar : PubMed/NCBI | |
Sakamoto A, Yamamoto H, Yoshida T, et al: Desmoplastic fibroblastoma (collagenous fibroma) with a specific breakpoint of 11q12. Histopathology. 51:859–860. 2007. View Article : Google Scholar : PubMed/NCBI | |
Maghari A, Ma N, Aisner S, Benevenia J and Hameed M: Collagenous fibroma (desmoplastic fibroblastoma) with a new translocation involving 11q12: a case report. Cancer Genet Cytogenet. 192:73–75. 2009. View Article : Google Scholar : PubMed/NCBI | |
Nishio J, Akiho S, Iwasaki H and Naito M: Translocation t(2;11) is characteristic of collagenous fibroma (desmoplastic fibroblastoma). Cancer Genet. 204:569–571. 2011. View Article : Google Scholar : PubMed/NCBI | |
Macchia G, Trombetta D, Möller E, et al: FOSL1 as a candidate target gene for 11q12 rearrangements in desmoplastic fibroblastoma. Lab Invest. 92:735–743. 2012. View Article : Google Scholar : PubMed/NCBI | |
Dal Cin P, Sciot R, De Smet L and Van Den Berghe H: Translocation 2;11 in a fibroma of tendon sheath. Histopathology. 32:433–435. 1998.PubMed/NCBI | |
Young MR and Colburn NH: Fra-1 a target for cancer prevention or intervention. Gene. 379:1–11. 2006. View Article : Google Scholar : PubMed/NCBI | |
Ray RA, Morton CC, Lipinski KK, Corson JM and Fletcher JA: Cytogenetic evidence of clonality in a case of pigmented villonodular synovitis. Cancer. 67:121–125. 1991. View Article : Google Scholar : PubMed/NCBI | |
Fletcher JA, Henkle C, Atkins L, Rosenberg AE and Morton CC: Trisomy 5 and trisomy 7 are nonrandom aberrations in pigmented villonodular synovitis: confirmation of trisomy 7 in uncultured cells. Genes Chromosomes Cancer. 4:264–266. 1992. View Article : Google Scholar : PubMed/NCBI | |
Mertens F, Orndal C, Mandahl N, et al: Chromosome aberrations in tenosynovial giant cell tumors and nontumorous synovial tissue. Genes Chromosomes Cancer. 6:212–217. 1993. View Article : Google Scholar : PubMed/NCBI | |
Rowlands CG, Roland B, Hwang WS and Sevick RJ: Diffusevariant tenosynovial giant cell tumor: a rare and aggressive lesion. Hum Pathol. 25:423–425. 1994. View Article : Google Scholar : PubMed/NCBI | |
Dal Cin P, Sciot R, Samson I, et al: Cytogenetic characterization of tenosynovial giant cell tumors (nodular tenosynovitis). Cancer Res. 54:3986–3987. 1994. | |
Choong PF, Willen H, Nilbert M, et al: Pigmented villonodular synovitis. Monoclonality and metastasis - a case for neoplastic origin? Acta Orthop Scand. 66:64–68. 1995. View Article : Google Scholar : PubMed/NCBI | |
Gonzalez-Campora R, Salas Herrero E, Otal-Salaverri C, et al: Diffuse tenosynovial giant cell tumor of soft tissues: report of a case with cytologic and cytogenetic findings. Acta Cytol. 39:770–776. 1995.PubMed/NCBI | |
Dal Cin P, Sciot R, De Smet L, Van Damme B and Van Den Berghe H: A new cytogenetic subgroup in tenosynovial giant cell tumors (nodular tenosynovitis) is characterized by involvement of 16q24. Cancer Genet Cytogenet. 87:85–87. 1996.PubMed/NCBI | |
Ohjimi Y, Iwasaki H, Ishiguro M, et al: Short arm of chromosome 1 aberration recurrently found in pigmented villonodular synovitis. Cancer Genet Cytogenet. 90:80–85. 1996. View Article : Google Scholar : PubMed/NCBI | |
Sciot R, Rosai J, Dal Cin P, et al: Analysis of 35 cases of localized and diffuse tenosynovial giant cell tumor: a report from the chromosomes and morphology (CHAMP) study group. Mod Pathol. 12:576–579. 1999.PubMed/NCBI | |
Nilsson M, Hoglund M, Panagopoulos I, et al: Molecular cytogenetic mapping of recurrent chromosomal breakpoints in tenosynovial giant cell tumors. Virchows Arch. 441:475–480. 2002. View Article : Google Scholar : PubMed/NCBI | |
Ferrer J, Namiq A, Carda C, Lopez-Gines C, Tawfik O and Llombart-Bosch A: Diffuse type of giant-cell tumor of tendon sheath: an ultrastructural study of two cases with cytogenetic support. Ultrastruct Pathol. 26:15–21. 2002. View Article : Google Scholar : PubMed/NCBI | |
Brandal P, Bjerkehagen B and Heim S: Molecular cytogenetic characterization of tenosynovial giant cell tumors. Neoplasia. 6:578–583. 2004. View Article : Google Scholar : PubMed/NCBI | |
Occhipinti E, Heinrich SD and Craver R: Giant cell tumor of tendon sheath arising in the toe. Fetal Pediatr Pathol. 23:171–179. 2004. View Article : Google Scholar : PubMed/NCBI | |
West RB, Rubin BP, Miller MA, et al: A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells. Proc Natl Acad Sci USA. 103:690–695. 2006. View Article : Google Scholar : PubMed/NCBI | |
Moller E, Mandahl N, Mertens F and Panagopoulos I: Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors. Genes Chromosomes Cancer. 47:21–25. 2008. View Article : Google Scholar : PubMed/NCBI | |
Blay JY, El Sayadi H, Thiesse P, Garret J and Ray-Coquard I: Complete response to imatinib in relapsing pigmented villonodular synovitis/tenosynovial giant cell tumor (PVNS/TGCT). Ann Oncol. 19:821–822. 2008. View Article : Google Scholar : PubMed/NCBI | |
Cassier PA, Gelderblom H, Stacchiotti S, et al: Efficacy of imatinib mesylate for the treatment of locally advanced and/or metastatic tenosynovial giant cell tumor/pigmented villonodular synovitis. Cancer. 118:1649–1655. 2012. View Article : Google Scholar : PubMed/NCBI | |
Mariño-Enríquez A and Fletcher CDM: Angiofibroma of soft tissue: clinicopathologic characterization of a distinctive benign fibrovascular neoplasm in a series of 37 cases. Am J Surg Pathol. 36:500–508. 2012.PubMed/NCBI | |
Jin Y, Möller E, Nord KH, et al: Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes. Genes Chromosomes Cancer. 51:510–520. 2012. View Article : Google Scholar : PubMed/NCBI | |
Schoolmeester JK, Sukov WR, Aubry MC and Folpe AL: Angiofibroma of soft tissue: core needle biopsy diagnosis, with cytogenetic confirmation. Am J Surg Pathol. 36:1421–1423. 2012. View Article : Google Scholar : PubMed/NCBI | |
Sumegi J, Streblow R, Frayer RW, et al: Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. Genes Chromosomes Cancer. 49:224–236. 2010. | |
Wang L, Motoi T, Khanin R, et al: Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data. Genes Chromosomes Cancer. 51:127–139. 2012. View Article : Google Scholar : PubMed/NCBI | |
Montgomery EA, Devaney KO, Giordano TJ and Weiss SW: Inflammatory myxohyaline tumor of distal extremities with virocyte or Reed-Sternberg-like cells: a distinctive lesion with features simulating inflammatory conditions, Hodgkin’s disease and various sarcomas. Mod Pathol. 11:384–391. 1998. | |
Meis-Kindblom JM and Kindblom LG: Acral myxoinflammatory fibroblastic sarcoma: a low-grade tumor of the hands and feet. Am J Surg Pathol. 22:911–924. 1998. View Article : Google Scholar : PubMed/NCBI | |
Lambert I, Debiec-Rychter M, Guelinckx P, Hagemeijer A and Sciot R: Acral myxoinflammatory fibroblastic sarcoma with unique clonal chromosomal changes. Virchows Arch. 438:509–512. 2001. View Article : Google Scholar : PubMed/NCBI | |
Mansoor A, Fidda N, Himoe E, Payne M, Lawce H and Magenis RE: Myxoinflammatory fibroblastic sarcoma with complex supernumerary ring chromosomes composed of chromosome 3 segments. Cancer Genet Cytogenet. 152:61–65. 2004. View Article : Google Scholar : PubMed/NCBI | |
Ida CM, Rolig KA, Hulshizer RL, et al: Myxoinflammatory fibroblastic sarcoma showing t(2;6)(q31;p21.3) as a sole cytogenetic abnormality. Cancer Genet Cytogenet. 177:139–142. 2007. View Article : Google Scholar : PubMed/NCBI | |
Gonzalez-Cámpora R, Ríos-Martín JJ, Solórzano-Amoretti A, et al: Fine needle aspiration cytology of an acral myxoinflammatory fibroblastic sarcoma: case report with cytological and cytogenetic findings. Cytopathology. 19:118–123. 2008.PubMed/NCBI | |
Hallor KH, Sciot R, Staaf J, et al: Two genetic pathways, t(1;10) and amplification of 3p11–12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour and morphologically similar lesions. J Pathol. 217:716–727. 2009.PubMed/NCBI | |
Elco CP, Mariño-Enríquez A, Abraham JA, Dal Cin P and Hornick JL: Hybrid myxoinflammatory fibroblastic sarcoma/hemosiderotic fibrolipomatous tumor: report of a case providing further evidence for a pathogenetic link. Am J Surg Pathol. 34:1723–1727. 2010. | |
Antonescu CR, Zhang L, Nielsen GP, Rosenberg AE, Dal Cin P and Fletcher CD: Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor. Genes Chromosomes Cancer. 50:757–764. 2011. View Article : Google Scholar : PubMed/NCBI | |
Wettach GR, Boyd LJ, Lawce HJ, Magenis RE and Mansoor A: Cytogenetic analysis of a hemosiderotic fibrolipomatous tumor. Cancer Genet Cytogenet. 182:140–143. 2008. View Article : Google Scholar : PubMed/NCBI | |
Baumhoer D, Glatz K, Schulten HJ, et al: Myxoinflammatory fibroblastic sarcoma: investigations by comparative genomic hybridization of two cases and review of the literature. Virchows Arch. 451:923–928. 2007. View Article : Google Scholar : PubMed/NCBI | |
Hélias-Rodzewicz Z, Pérot G, Chibon F, et al: YAP1 and VGLL3, encoding two cofactors of TEAD transcription factors, are amplified and overexpressed in a subset of soft tissue sarcomas. Genes Chromosomes Cancer. 49:1161–1171. 2010.PubMed/NCBI | |
Mattila MM and Härkönen PL: Role of fibroblast growth factor 8 in growth and progression of hormonal cancer. Cytokine Growth Factor Rev. 18:257–266. 2007. View Article : Google Scholar : PubMed/NCBI | |
Folpe AL and Weiss SW: Ossifying fibromyxoid tumor of soft parts: a clinicopathologic study of 70 cases with emphasis on atypical and malignant variants. Am J Surg Pathol. 27:421–431. 2003. View Article : Google Scholar : PubMed/NCBI | |
Miettinen M, Finnell V and Fetsch JF: Ossifying fibromyxoid tumor of soft parts - a clinicopathologic and immunohistochemical study of 104 cases with long-term follow-up and a critical review of the literature. Am J Surg Pathol. 32:996–1005. 2008. View Article : Google Scholar : PubMed/NCBI | |
Graham RP, Dry S, Li X, et al: Ossifying fibromyxoid tumor of soft parts: a clinicopathologic, proteomic and genomic study. Am J Surg Pathol. 35:1615–1625. 2011. View Article : Google Scholar : PubMed/NCBI | |
Sovani V, Velagaleti GVN, Filipowicz E, Gatalica Z and Knisely AS: Ossifying fibromyxoid tumor of soft parts: report of a case with novel cytogenetic findings. Cancer Genet Cytogenet. 127:1–6. 2001. View Article : Google Scholar : PubMed/NCBI | |
Nishio J, Iwasaki H, Ohjimi Y, et al: Ossifying fibromyxoid tumor of soft parts: cytogenetic findings. Cancer Genet Cytogenet. 133:124–128. 2002. View Article : Google Scholar : PubMed/NCBI | |
Kawashima H, Ogose A, Umezu H, et al: Ossifying fibromyxoid tumor of soft parts with clonal chromosomal aberrations. Cancer Genet Cytogenet. 176:156–160. 2007. View Article : Google Scholar : PubMed/NCBI | |
Gebre-Medhin S, Nord KH, Möller E, et al: Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors. Am J Pathol. 181:1069–1077. 2012. View Article : Google Scholar : PubMed/NCBI |