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High-resolution genomic copy number profiling of primary intraocular lymphoma by single nucleotide polymorphism microarrays.

Wang L, Sato-Otsubo A, Sugita S, Takase H, Mochizuki M, Usui Y, Goto H, Koyama T, Akiyama H, Miura O, Ogawa S, Arai A - Cancer Sci. (2014)

Bottom Line: Large CN loss in 6q was detected in three of four PIOL patients who had early CNS development and short survival periods, whereas long-term survivors did not have such deletions.The results suggest that IOCNSL is a highly malignant form of PIOL that infiltrates into the CNS at an early stage.They also indicate that genetic differences between PIOL and primary CNS lymphoma need to be clarified.

View Article: PubMed Central - PubMed

Affiliation: Department of Hematology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

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Outputs of deletions of 6q22.33 and 9p21.3 in each type of intraocular lymphoma (IOL), generated by CNAG software. The CNAG software is freely available (http://www.genome.umin.jp/). (a) Chromosome 6q22.33 shows recurrent copy number (CN) loss in IOL with a central nervous system lesion at diagnosis (IOCNSL). The frequency in IOCNSL was 50% (6/12). (b) Chromosome 6q22.33 shows recurrent CN loss in primary IOL (PIOL). The frequency in PIOL was 25% (4/16). (c) Chromosome 9p21.3 shows recurrent CN loss in IOCNSL. The frequency in IOCNSL was 50% (6/12). (d) Chromosome 9p21.3 shows recurrent CN loss in PIOL. The frequency in PIOL was 25% (4/16). In figure parts (a–d), each horizontal line represents a CN loss found in a single case. (e,f) CNAG outputs of homozygous deletions of 9p21.3 in IOCNSL-9 (e) and IOCNSL-12 (f). Presence of homozygous deletions is indicated by the biallelic reduction of allele-specific CN (AsCN). tCN, total CN.
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fig03: Outputs of deletions of 6q22.33 and 9p21.3 in each type of intraocular lymphoma (IOL), generated by CNAG software. The CNAG software is freely available (http://www.genome.umin.jp/). (a) Chromosome 6q22.33 shows recurrent copy number (CN) loss in IOL with a central nervous system lesion at diagnosis (IOCNSL). The frequency in IOCNSL was 50% (6/12). (b) Chromosome 6q22.33 shows recurrent CN loss in primary IOL (PIOL). The frequency in PIOL was 25% (4/16). (c) Chromosome 9p21.3 shows recurrent CN loss in IOCNSL. The frequency in IOCNSL was 50% (6/12). (d) Chromosome 9p21.3 shows recurrent CN loss in PIOL. The frequency in PIOL was 25% (4/16). In figure parts (a–d), each horizontal line represents a CN loss found in a single case. (e,f) CNAG outputs of homozygous deletions of 9p21.3 in IOCNSL-9 (e) and IOCNSL-12 (f). Presence of homozygous deletions is indicated by the biallelic reduction of allele-specific CN (AsCN). tCN, total CN.

Mentions: Some genes that affect the prognosis of lymphoma have already been described. It has been reported that PCNSL with deletion of 6q22.33, which contains PTPRK, revealed an aggressive clinical course.15 As shown in Figure3(a,b), loss of 6q22.33 was detected in 50% (6/12) of IOCNSLs and in 25% (4/16) of PIOLs. In addition, loss of 9p21.3, which contains CDKN2A (p16), was detected in 6/12 (50%) IOCNSLs (Fig.3c), whereas it was deleted in 4/16 (25%) PIOLs (Fig.3d). Among them, homozygous deletion of CDKN2A had occurred in two IOCNSL patients (Fig.3e,f). Although statistical difference was not identified between them, loss of 6q22.33 and loss of 9p21.3 in IOCNSL seemed to be more common than that in PIOL.


High-resolution genomic copy number profiling of primary intraocular lymphoma by single nucleotide polymorphism microarrays.

Wang L, Sato-Otsubo A, Sugita S, Takase H, Mochizuki M, Usui Y, Goto H, Koyama T, Akiyama H, Miura O, Ogawa S, Arai A - Cancer Sci. (2014)

Outputs of deletions of 6q22.33 and 9p21.3 in each type of intraocular lymphoma (IOL), generated by CNAG software. The CNAG software is freely available (http://www.genome.umin.jp/). (a) Chromosome 6q22.33 shows recurrent copy number (CN) loss in IOL with a central nervous system lesion at diagnosis (IOCNSL). The frequency in IOCNSL was 50% (6/12). (b) Chromosome 6q22.33 shows recurrent CN loss in primary IOL (PIOL). The frequency in PIOL was 25% (4/16). (c) Chromosome 9p21.3 shows recurrent CN loss in IOCNSL. The frequency in IOCNSL was 50% (6/12). (d) Chromosome 9p21.3 shows recurrent CN loss in PIOL. The frequency in PIOL was 25% (4/16). In figure parts (a–d), each horizontal line represents a CN loss found in a single case. (e,f) CNAG outputs of homozygous deletions of 9p21.3 in IOCNSL-9 (e) and IOCNSL-12 (f). Presence of homozygous deletions is indicated by the biallelic reduction of allele-specific CN (AsCN). tCN, total CN.
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fig03: Outputs of deletions of 6q22.33 and 9p21.3 in each type of intraocular lymphoma (IOL), generated by CNAG software. The CNAG software is freely available (http://www.genome.umin.jp/). (a) Chromosome 6q22.33 shows recurrent copy number (CN) loss in IOL with a central nervous system lesion at diagnosis (IOCNSL). The frequency in IOCNSL was 50% (6/12). (b) Chromosome 6q22.33 shows recurrent CN loss in primary IOL (PIOL). The frequency in PIOL was 25% (4/16). (c) Chromosome 9p21.3 shows recurrent CN loss in IOCNSL. The frequency in IOCNSL was 50% (6/12). (d) Chromosome 9p21.3 shows recurrent CN loss in PIOL. The frequency in PIOL was 25% (4/16). In figure parts (a–d), each horizontal line represents a CN loss found in a single case. (e,f) CNAG outputs of homozygous deletions of 9p21.3 in IOCNSL-9 (e) and IOCNSL-12 (f). Presence of homozygous deletions is indicated by the biallelic reduction of allele-specific CN (AsCN). tCN, total CN.
Mentions: Some genes that affect the prognosis of lymphoma have already been described. It has been reported that PCNSL with deletion of 6q22.33, which contains PTPRK, revealed an aggressive clinical course.15 As shown in Figure3(a,b), loss of 6q22.33 was detected in 50% (6/12) of IOCNSLs and in 25% (4/16) of PIOLs. In addition, loss of 9p21.3, which contains CDKN2A (p16), was detected in 6/12 (50%) IOCNSLs (Fig.3c), whereas it was deleted in 4/16 (25%) PIOLs (Fig.3d). Among them, homozygous deletion of CDKN2A had occurred in two IOCNSL patients (Fig.3e,f). Although statistical difference was not identified between them, loss of 6q22.33 and loss of 9p21.3 in IOCNSL seemed to be more common than that in PIOL.

Bottom Line: Large CN loss in 6q was detected in three of four PIOL patients who had early CNS development and short survival periods, whereas long-term survivors did not have such deletions.The results suggest that IOCNSL is a highly malignant form of PIOL that infiltrates into the CNS at an early stage.They also indicate that genetic differences between PIOL and primary CNS lymphoma need to be clarified.

View Article: PubMed Central - PubMed

Affiliation: Department of Hematology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Show MeSH
Related in: MedlinePlus