t(6;12)(q23;q13) and t(10;16)(q22;p11) in a phyllodes tumor of breast

Birdsall, Sandra; MacLennan, Kenneth; Gusterson, Barry A.

doi:10.1016/0165-4608(92)90236-2

Cited by 28 publications

(13 citation statements)

References 16 publications

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“…Using interphase FISH with differentially labeled probes for the pericentric region of chromosome 1 and a single copy marker distal to this, the presence of i(1q) was deduced in 4 of the 7 samples with gain of 1q (data not shown). Other rearrangements may result in extra copies of 1q for example, the add(14) chromosome described in case 5 (Birdsall et al, 1992) is consistent with the additional 1q material found by CGH.…”

Section: Discussionsupporting

confidence: 65%

“…Data from five or more high quality metaphases were used, and average profiles of the red-to-green fluorescence ratio were produced. (Birdsall et al, 1992(Birdsall et al, , 1995 …”

Section: Cgh and Digital Image Analysismentioning

confidence: 98%

“…Only 11 cases of cytogenetically investigated phyllodes tumors of the breast have been reported (Birdsall et al, 1992(Birdsall et al, , 1995Dietrich et al, 1994;Dal Cin et al, 1995;Warso et al, 1995). The changes were variable and complex suggesting that the approach of comparative genomic hybridization (CGH) would be appropriate to identify consistent gains and losses of chromosomal material (Kallioniemi et al, 1992;du Manoir et al, 1993).…”

Section: Introductionmentioning

confidence: 93%

“…The available clinical details are also shown in Table 1. Sample 5 had been previously karyotyped and a representative karyotype was 46,XX,t(6;12)(q23; q13), t(10;16)(q22;p11),t(13;22)(p11;q11),add(14) (p11) (Birdsall et al, 1992). Samples 3 and 4 were the primary and recurrent samples from the same patient and the karyotype of these was predominantly 45,XX,ϩ1,dic(1;10)(q10;q24),-21 and 46,XX, ϩi(1)(q10),-21, respectively.…”

Section: Tumor Specimensmentioning

confidence: 99%

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Phyllodes tumors of the breast analyzed by comparative genomic hybridization and association of increased 1q copy number with stromal overgrowth and recurrence

Lu¹,

Birdsall²,

Osin³

et al. 1997

Genes Chromosomes & Cancer

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Phyllodes tumors are rare neoplasms of the breast. Although they contain both epithelial and stromal components they are considered to be stromally derived lesions. The chromosomal copy number changes were determined in 19 well characterized samples from 18 patients using comparative genomic hybridization. Most chromosomes were involved and generally the gains and losses were similar to those found in breast cancer with the exception that the phyllodes tumors showed no evidence of genomic amplification. The one recurrent sample analyzed had the same imbalances as the original tumor. Frequent changes were gain of 1q (7/18) and loss of 3p (6/18), followed by gain of 7q (4/18) and loss of 6q (4/18) and 3q (3/18). Gain of 1q material was significantly associated with histologically defined stromal overgrowth (P = 0.011). In addition, all the cases with gain of 1q material, without 1p gain, had a clinical history of recurrence. Only one case without 1q gain had a recurrence and this had loss of the X chromosome as the sole abnormality. Increased copy number of 1q material in the phyllodes tumors studied, in one case restricted to 1q24–32, was associated with recurrence (P = 0.00365) and might therefore be considered as an indicator of local aggressiveness requiring more radical treatment. Genes Chromosomes Cancer 20:275–281, 1997. © 1997 Wiley‐Liss, Inc.

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Section: Discussionsupporting

confidence: 65%

“…Data from five or more high quality metaphases were used, and average profiles of the red-to-green fluorescence ratio were produced. (Birdsall et al, 1992(Birdsall et al, , 1995 …”

Section: Cgh and Digital Image Analysismentioning

confidence: 98%

Section: Introductionmentioning

confidence: 93%

Section: Tumor Specimensmentioning

confidence: 99%

See 2 more Smart Citations

Phyllodes tumors of the breast analyzed by comparative genomic hybridization and association of increased 1q copy number with stromal overgrowth and recurrence

Lu¹,

Birdsall²,

Osin³

et al. 1997

Genes Chromosomes & Cancer

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“…1 At present, genetic changes that characterize the course of phyllodes tumors are poorly understood. Conventional cytogenetic studies showed variable and complex changes, [8][9][10][11][12][13][14] the significance and prognostic relevance of which remains unclear. No chromosomal aberrations specific to phyllodes tumors have been identified so far.…”

mentioning

confidence: 99%

Phyllodes tumors of the breast segregate in two groups according to genetic criteria

et al. 2007

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Phyllodes tumors are rare fibroepithelial tumors of the breast. The pathologic grading of phyllodes tumors based on the aspect of the stromal component, is divided into 2 or 3 grades according to the system used. To determine whether genetic markers could be of use for improving the classification of phyllodes tumors and to provide a better knowledge of the genetic alterations in these tumors, we analyzed chromosomal changes detected by comparative genomic hybridization (CGH) in comparison with histological data, in a series of 30 cases. Recurrent chromosome imbalances were observed in 55, 91 and 100% of benign, borderline and malignant phyllodes tumors, respectively. The mean number of chromosome changes was one in benign, six in borderline, and six in malignant phyllodes tumors. Most frequent genetic imbalances were þ 1q (12/30), À13q (7/30), À6q (9/30), þ 5 (9/30) and À10p (8/30). Gains of 1q, present in only one of nine benign tumors, were found in 11/21 (51%) borderline or malignant tumors. Losses of 13q have 13q14.2 as smallest region of overlap, suggesting that the RB1 gene could be the target of deletions. Amplifications of 12q14, involving the MDM2 locus, and of 8p24, involving the MYC gene, were observed in one case each. Borderline and malignant phyllodes tumors could not be differentiated on the basis of their genomic imbalances (presence and number of chromosomal changes, presence of 1q gain and/or 13q loss). Conversely, benign tumors could be significantly differentiated from the group composed of borderline and malignant tumors (Po0.01). This study reveals two distinct patterns of genomic imbalance in phyllodes tumors: benign, with none or a few chromosome changes and malignant, with numerous recurrent chromosomal changes, in particular 1q gain and 13q loss. Helpful additional pathological criteria for differentiating the two genetic groups of phyllodes tumors are the nuclear size and the mitotic rate. Modern Pathology (2007) 20, 435-444.

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Novel formation and amplification of thePAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma

Weber-Hall

McManus

Anderson

et al. 1996

Genes Chromosom. Cancer

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t(6;12)(q23;q13) and t(10;16)(q22;p11) in a phyllodes tumor of breast

Cited by 28 publications

References 16 publications

Phyllodes tumors of the breast analyzed by comparative genomic hybridization and association of increased 1q copy number with stromal overgrowth and recurrence

Phyllodes tumors of the breast analyzed by comparative genomic hybridization and association of increased 1q copy number with stromal overgrowth and recurrence

Phyllodes tumors of the breast segregate in two groups according to genetic criteria

Novel formation and amplification of thePAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma

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