Chromosome translocation (2;13) (q37;q14) in a disseminated alveolar rhabdomyosarcoma

Engel, Rosel; Ritterbach, J.; Schwabe, Dirk; Lampert, F.

doi:10.1007/bf00441819

Cited by 19 publications

(7 citation statements)

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“…This abnormality was first described by Seidal et al (1982) who found three copies of a marker, identified as t(2;13)(2pter-t2q37::13q14+13qter), in one of seven cases in which banding studies were possible. Numerous other authors have now reported the same translocation in a large number of cases of alveolar RMS (Turc-Care1 et al, 1986;Douglass et al, 1987;Lai et al, 1987;Lizard-Nacol et al, 1987;Rowe et al, 1987;Engel et al, 1988Wang-Wuu et al, 1988Vagner et al, 1989;Valentine et al, 1989;Nojima et al, 1990;Mitchell et al, 1991) ?p25 t(2;13)(p25;q14),t( 1;13)(q21;q14) (other than t with 2q o r 2p) t(1;13)(p36;q14) t(1;13)(p21;q14) t(8;13)(p21;q14) t(8; I l)(q22;q I3),t(X; I l)(q28;q 13) t(l;I l)(p13;q13) t(2; I l)(q37;q 13) t( I 1;22) t( I I ;22)(q24;q I2),ins t(5; 13) on chromosome 2 or 13: one case of t(2;11)(q37;q13) (Whang-Peng et al, 1986), one case of t(1;13)(p21;q14) (Douglass et al, 1987), one case of t(8;13)(p2l;q14) (Douglass et al, 1991), and four cases of t(1;13)(p36;q14) (Biegel et al, 1991;Douglass et al, 1991; patient JM, present work). The total percentage of cases with breakpoints at 2q37 is 68%, and at 13q14 it is 86%.…”

Section: Discussionmentioning

confidence: 82%

“…G-banding of alveolar RMS was first reported in 1982 when Seidel et al observed three identical 2q markers, identified as t(2;13)(2pter+2q37::13q14-+13qter), in one of their seven cases of RMS-A. Since then, additional cases of the 2;13 translocation have been reported and this abnormality is commonly considered to be associated with RMS-A (Trent et al, 1985;Clayton et al, 1986Garvin et al, 1986Moriyama et al, 1986;Turc-Carel et al, 1986;Douglass et al, 1987;Lai et al, 1987;Lizard-Nacol et al, 1987;Rowe et al, 1987;Engel et al, 1988;Hayashi et al, 1988;Wang-Wuu et al, 1988).…”

Section: Introductionmentioning

confidence: 98%

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Cytogenetic studies in subgroups of rhabdomyosarcoma

Whang‐Peng

Knutsen

Theil

et al. 1992

Genes Chromosomes & Cancer

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Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood and accounts for 10% of all solid tumors in children. There are three different histologic forms of this tumor: embryonal (RMS-E), alveolar (RMS-A), and primitive (RMS-P). Among these, the embryonal form has responded well to chemotherapy. Identification of the correct subtype is important for both the management and treatment of this malignancy. However, the histopathologic classification of RMS is sometimes difficult and distinguishing between the embryonic and primitive forms can present a diagnostic dilemma. Chromosomal abnormalities have been observed in all subtypes. We present the cytogenetic findings in six cases of RMS or related sarcoma. All four cases with RMS-A had both numerical and structural abnormalities in the tumor and involved bone marrow specimens. Three patients had a common marker, t(2;13)(q37;q14), and one patient had a variant marker involving 13q14, t(1;13) (p36;q14), and double minutes (dmin). The single embryonal RMS patient had modal chromosome numbers in the hypertriploid range and extensive structural abnormalities; the t(2;13) was not present, but translocation of 13q to both 1q and 2p was observed, der(1)t(1;13)(q21;q14) and der(2)t(2;13)(p25;q14). The patient with primitive type RMS had a hypodiploid line with several markers, including a complex translocation involving chromosomes 5 and 13 with a breakpoint at 13q14, and t(11;12)(q24;q12), a chromosome marker heretofore found only in Ewing's sarcoma and related tumors. This patient had atypical RMS with mixed neural and myogenic elements. The significance of these chromosomal markers and their importance in the characterization of childhood tumors are discussed, along with a review of the literature.

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Section: Discussionmentioning

confidence: 82%

Section: Introductionmentioning

confidence: 98%

Cytogenetic studies in subgroups of rhabdomyosarcoma

Whang‐Peng

Knutsen

Theil

et al. 1992

Genes Chromosomes & Cancer

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“…Rearrangements of 2q, particularly t(2; 13) (q35+37;q14), are commonly observed in rhabdomyosarcoma (Seidal et al, 1982;Potluri and Gilbert, 1985;Garvin et al, 1986;Turc-Carel et al, 1986;Douglas et al, 1987;Lai et al, 1987;Lizard-Narcol et al, 1987;Rowe et al, 1987;Engel et al, 1988;Wang Wuu et al, 1988;Mitelman, 1991;Whang-Peng et al, 1992;Gladstone et a]., 1993). Abnormalities of the long arm of chromosome 2 were observed in both of the presented cases of malignant triton tumor.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic findings in malignant triton tumor

Travis

Bridge

Neff

et al. 1994

Genes Chromosomes & Cancer

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Malignant triton tumor is a rare histologic variant of malignant schwannoma that shows both neural and skeletal muscle differentiation. In this study, cytogenetic analysis of a recurrent malignant triton tumor of the forearm from a 26-year-old female and a primary paraspinal malignant triton tumor from a 27-year-old female revealed complex karyotypes displaying multiple numerical and structural abnormalities. Abnormalities shared by both tumors included three copies of chromosome 22 and structural rearrangements of chromosomes 2, 7, and 21 at identical or closely located breakpoints.

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“…Alveolar histology was assigned based on morphology and upon identification of the t(2;13)(q37;q14) translocation, expressing the resulting PAX3-FOXO1 (formerly known as PAX3-FKHR) fusion protein (55). Although there was a time that the 2q breakpoint was assigned to q35 or q37, this has now been resolved as a q35 breakpoint, so that the translocation would now more correctly be stated as t(2;13)(q35;q14).…”

Section: Alveolar Rms Cell Linesmentioning

confidence: 99%

Human Rhabdomyosarcoma Cell Lines for Rhabdomyosarcoma Research: Utility and Pitfalls

Hinson¹,

Jones²,

Crose³

et al. 2013

Front. Oncol.

168

143

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Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood and adolescence. Despite intergroup clinical trials conducted in Europe and North America, outcomes for high risk patients with this disease have not significantly improved in the last several decades, and survival of metastatic or relapsed disease remains extremely poor. Accrual into new clinical trials is slow and difficult, so in vitro cell-line research and in vivo xenograft models present an attractive alternative for preclinical research for this cancer type. Currently, 30 commonly used human RMS cell lines exist, with differing origins, karyotypes, histologies, and methods of validation. Selecting an appropriate cell line for RMS research has important implications for outcomes. There are also potential pitfalls in using certain cell lines including contamination with murine stromal cells, cross-contamination between cell lines, discordance between the cell line and its associated original tumor, imposter cell lines, and nomenclature errors that result in the circulation of two or more presumed unique cell lines that are actually from the same origin. These pitfalls can be avoided by testing for species-specific isoenzymes, microarray analysis, assays for subtype-specific fusion products, and short tandem repeat analysis.

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Chromosome translocation (2;13) (q37;q14) in a disseminated alveolar rhabdomyosarcoma

Cited by 19 publications

References 4 publications

Cytogenetic studies in subgroups of rhabdomyosarcoma

Cytogenetic studies in subgroups of rhabdomyosarcoma

Cytogenetic findings in malignant triton tumor

Human Rhabdomyosarcoma Cell Lines for Rhabdomyosarcoma Research: Utility and Pitfalls

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