Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia
Chronic myeloid leukemia (CML) is a hematopoietic stem cell disorder included in the broader diagnostic category of myeloproliferative neoplasms, associated with fusion by BCR gene at chromosome 22q11 to ABL1 gene at chromosome 9q34 with the formation of the Philadelphia (Ph) chromosome. In 2–10% o...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/691630 |
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| author | F. Malvestiti C. Agrati S. Chinetti A. Di Meco S. Cirrincione M. Oggionni B. Grimi F. Maggi G. Simoni F. R. Grati |
| author_facet | F. Malvestiti C. Agrati S. Chinetti A. Di Meco S. Cirrincione M. Oggionni B. Grimi F. Maggi G. Simoni F. R. Grati |
| author_sort | F. Malvestiti |
| collection | DOAJ |
| description | Chronic myeloid leukemia (CML) is a hematopoietic stem cell disorder included in the broader diagnostic category of myeloproliferative neoplasms, associated with fusion by BCR gene at chromosome 22q11 to ABL1 gene at chromosome 9q34 with the formation of the Philadelphia (Ph) chromosome. In 2–10% of CML cases, the fusion gene arises in connection with a variant translocation, involving chromosomes 9, 22, and one or more different chromosomes; consequently, the Ph chromosome could be masked within a complex chromosome rearrangement. In cases with variant Ph translocation a deletion on der(9) may be more frequently observed than in cases with the classical one. Herein we describe a novel case of CML with complex variant Ph translocation involving chromosomes 9, 12, and 22. We present the hematologic response and cytogenetic response after Imatinib treatment. We also speculated the mechanism which had originated the chromosome rearrangement. |
| format | Article |
| id | doaj-art-618676cf07c048ae9d9e6db9bbad16bf |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-618676cf07c048ae9d9e6db9bbad16bf2025-02-03T07:23:34ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/691630691630Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid LeukaemiaF. Malvestiti0C. Agrati1S. Chinetti2A. Di Meco3S. Cirrincione4M. Oggionni5B. Grimi6F. Maggi7G. Simoni8F. R. Grati9Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street, 21052 Busto Arsizio, Varese, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street, 21052 Busto Arsizio, Varese, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street, 21052 Busto Arsizio, Varese, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street, 21052 Busto Arsizio, Varese, ItalyTreviglio Caravaggio Hospital, 1 Pittori Cavenaghi Square, 24043 Caravaggio, Bergamo, ItalyTreviglio Caravaggio Hospital, 1 Pittori Cavenaghi Square, 24043 Caravaggio, Bergamo, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street, 21052 Busto Arsizio, Varese, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street, 21052 Busto Arsizio, Varese, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street, 21052 Busto Arsizio, Varese, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street, 21052 Busto Arsizio, Varese, ItalyChronic myeloid leukemia (CML) is a hematopoietic stem cell disorder included in the broader diagnostic category of myeloproliferative neoplasms, associated with fusion by BCR gene at chromosome 22q11 to ABL1 gene at chromosome 9q34 with the formation of the Philadelphia (Ph) chromosome. In 2–10% of CML cases, the fusion gene arises in connection with a variant translocation, involving chromosomes 9, 22, and one or more different chromosomes; consequently, the Ph chromosome could be masked within a complex chromosome rearrangement. In cases with variant Ph translocation a deletion on der(9) may be more frequently observed than in cases with the classical one. Herein we describe a novel case of CML with complex variant Ph translocation involving chromosomes 9, 12, and 22. We present the hematologic response and cytogenetic response after Imatinib treatment. We also speculated the mechanism which had originated the chromosome rearrangement.http://dx.doi.org/10.1155/2014/691630 |
| spellingShingle | F. Malvestiti C. Agrati S. Chinetti A. Di Meco S. Cirrincione M. Oggionni B. Grimi F. Maggi G. Simoni F. R. Grati Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia Case Reports in Genetics |
| title | Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia |
| title_full | Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia |
| title_fullStr | Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia |
| title_full_unstemmed | Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia |
| title_short | Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia |
| title_sort | complex variant of philadelphia translocation involving chromosomes 9 12 and 22 in a case with chronic myeloid leukaemia |
| url | http://dx.doi.org/10.1155/2014/691630 |
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