Molecular Cytogenetic Characterization of Tenosynovial Giant Cell Tumors

Overview

Journal Neoplasia

Publisher Elsevier

Specialty Oncology

Date 2004 Nov 19

PMID 15548367

Citations 13

Authors

Petter Brandal

Bodil Bjerkehagen

Sverre Heim

Affiliations

Soon will be listed here.

Abstract

Tenosynovial giant cell tumor (TSGCT) is a disease of disputed etiology and pathogenesis. Some investigations indicate a neoplastic origin of the tumors; others indicate that they are polyclonal and inflammatory. The cytogenetic and molecular genetic features of TSGCTs are largely unknown, as only some 20 localized and 30 diffuse tumors with cytogenetic aberrations have been reported. The most common karyotypic aberrations have been trisomy for chromosomes 5 and 7 and translocations involving chromosomal area 1p11-13. We decided to screen the genomes of TSGCTs by comparative genomic hybridization (CGH) to perform interphase fluorescence in situ hybridization (IP-FISH), looking for numerical aberrations of chromosomes 1, 5, and 7, and to analyze the tumors for microsatellite instability. Except for two diffuse TSGCTs that came fresh to us, and which, by karyotyping, exhibited t(1;22)(p13;q12) and a t(1;1)(q21;p11) and +7, respectively, all studies had to be performed on formalin-fixed, paraffin-embedded material. DNA was extracted from 51 localized and nine diffuse TSGCTs. CGH was successful for 24 tumors, but none of them showed copy number changes. The IP-FISH studies showed trisomy 7 in 56% of the tumors (15/27), whereas chromosomes 1 and 5 seemed to be disomic in all TSGCTs. All informative tumors were wild-type by microsatellite instability analysis.

Citing Articles

Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation.

Panagopoulos I, Heim S Cancer Genomics Proteomics. 2022; 19(6):647-672.

PMID: 36316036 PMC: 9620447. DOI: 10.21873/cgp.20349.

t(1;2)-Positive Localized Tenosynovial Giant Cell Tumor With Bone Invasion.

Nakayama S, Nishio J, Aoki M, Nabeshima K, Yamamoto T In Vivo. 2022; 36(5):2525-2529.

PMID: 36099115 PMC: 9463902. DOI: 10.21873/invivo.12989.

Giant cell tumour of EHL tendon sheath in young: a rare case report and review of the literature.

Pathak S, Salunke A, Virk J, Kumar N BMJ Case Rep. 2021; 14(9).

PMID: 34544702 PMC: 8454440. DOI: 10.1136/bcr-2021-242980.

Does CSF1 overexpression or rearrangement influence biological behaviour in tenosynovial giant cell tumours of the knee?.

Mastboom M, Hoek D, Bovee J, van de Sande M, Szuhai K Histopathology. 2018; 74(2):332-340.

PMID: 30152874 PMC: 7379608. DOI: 10.1111/his.13744.

Giant cell tumour of tendon sheath and synovial membrane: A review of 26 cases.

Kant K, Manav A, Kumar R, Abhinav , Sinha V, Sharma A J Clin Orthop Trauma. 2018; 8(Suppl 2):S96-S99.

PMID: 29339850 PMC: 5761697. DOI: 10.1016/j.jcot.2017.06.014.

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