Use of mate-pair sequencing to characterize a complex cryptic
Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in B...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Peterson, Jess F. [verfasserIn] Pitel, Beth A. [verfasserIn] Smoley, Stephanie A. [verfasserIn] Smadbeck, James B. [verfasserIn] Johnson, Sarah H. [verfasserIn] Vasmatzis, George [verfasserIn] Kearney, Hutton M. [verfasserIn] Greipp, Patricia T. [verfasserIn] Hoppman, Nicole L. [verfasserIn] Baughn, Linda B. [verfasserIn] Ketterling, Rhett P. [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2018 |
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| Schlagwörter: |
Chronic myeloid leukemia (CML) |
|---|
| Übergeordnetes Werk: |
Enthalten in: Human pathology - New York, NY [u.a.] : Elsevier, 1970, 89, Seite 109-114 |
|---|---|
| Übergeordnetes Werk: |
volume:89 ; pages:109-114 |
| DOI / URN: |
10.1016/j.humpath.2018.09.010 |
|---|
| Katalog-ID: |
ELV002581434 |
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| 520 | |a Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. | ||
| 650 | 4 | |a Mate-pair sequencing (MPseq) | |
| 650 | 4 | |a Chronic myeloid leukemia (CML) | |
| 650 | 4 | |a t(9;22)(q34;q11.2) | |
| 650 | 4 | |a Fluorescence in situ hybridization (FISH) | |
| 650 | 4 | |a Conventional chromosome analysis | |
| 700 | 1 | |a Pitel, Beth A. |e verfasserin |4 aut | |
| 700 | 1 | |a Smoley, Stephanie A. |e verfasserin |4 aut | |
| 700 | 1 | |a Smadbeck, James B. |e verfasserin |4 aut | |
| 700 | 1 | |a Johnson, Sarah H. |e verfasserin |4 aut | |
| 700 | 1 | |a Vasmatzis, George |e verfasserin |4 aut | |
| 700 | 1 | |a Kearney, Hutton M. |e verfasserin |4 aut | |
| 700 | 1 | |a Greipp, Patricia T. |e verfasserin |4 aut | |
| 700 | 1 | |a Hoppman, Nicole L. |e verfasserin |4 aut | |
| 700 | 1 | |a Baughn, Linda B. |e verfasserin |4 aut | |
| 700 | 1 | |a Ketterling, Rhett P. |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Human pathology |d New York, NY [u.a.] : Elsevier, 1970 |g 89, Seite 109-114 |h Online-Ressource |w (DE-627)326644784 |w (DE-600)2041481-X |w (DE-576)094477272 |x 1532-8392 |7 nnns |
| 773 | 1 | 8 | |g volume:89 |g pages:109-114 |
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2018 |
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2018 |
| allfields |
10.1016/j.humpath.2018.09.010 doi (DE-627)ELV002581434 (ELSEVIER)S0046-8177(18)30372-1 DE-627 ger DE-627 rda eng 610 DE-600 44.46 bkl 44.47 bkl Peterson, Jess F. verfasserin aut Use of mate-pair sequencing to characterize a complex cryptic 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. Mate-pair sequencing (MPseq) Chronic myeloid leukemia (CML) t(9;22)(q34;q11.2) Fluorescence in situ hybridization (FISH) Conventional chromosome analysis Pitel, Beth A. verfasserin aut Smoley, Stephanie A. verfasserin aut Smadbeck, James B. verfasserin aut Johnson, Sarah H. verfasserin aut Vasmatzis, George verfasserin aut Kearney, Hutton M. verfasserin aut Greipp, Patricia T. verfasserin aut Hoppman, Nicole L. verfasserin aut Baughn, Linda B. verfasserin aut Ketterling, Rhett P. verfasserin aut Enthalten in Human pathology New York, NY [u.a.] : Elsevier, 1970 89, Seite 109-114 Online-Ressource (DE-627)326644784 (DE-600)2041481-X (DE-576)094477272 1532-8392 nnns volume:89 pages:109-114 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.46 Klinische Pathologie 44.47 Pathologie Medizin AR 89 109-114 |
| spelling |
10.1016/j.humpath.2018.09.010 doi (DE-627)ELV002581434 (ELSEVIER)S0046-8177(18)30372-1 DE-627 ger DE-627 rda eng 610 DE-600 44.46 bkl 44.47 bkl Peterson, Jess F. verfasserin aut Use of mate-pair sequencing to characterize a complex cryptic 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. Mate-pair sequencing (MPseq) Chronic myeloid leukemia (CML) t(9;22)(q34;q11.2) Fluorescence in situ hybridization (FISH) Conventional chromosome analysis Pitel, Beth A. verfasserin aut Smoley, Stephanie A. verfasserin aut Smadbeck, James B. verfasserin aut Johnson, Sarah H. verfasserin aut Vasmatzis, George verfasserin aut Kearney, Hutton M. verfasserin aut Greipp, Patricia T. verfasserin aut Hoppman, Nicole L. verfasserin aut Baughn, Linda B. verfasserin aut Ketterling, Rhett P. verfasserin aut Enthalten in Human pathology New York, NY [u.a.] : Elsevier, 1970 89, Seite 109-114 Online-Ressource (DE-627)326644784 (DE-600)2041481-X (DE-576)094477272 1532-8392 nnns volume:89 pages:109-114 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.46 Klinische Pathologie 44.47 Pathologie Medizin AR 89 109-114 |
| allfields_unstemmed |
10.1016/j.humpath.2018.09.010 doi (DE-627)ELV002581434 (ELSEVIER)S0046-8177(18)30372-1 DE-627 ger DE-627 rda eng 610 DE-600 44.46 bkl 44.47 bkl Peterson, Jess F. verfasserin aut Use of mate-pair sequencing to characterize a complex cryptic 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. Mate-pair sequencing (MPseq) Chronic myeloid leukemia (CML) t(9;22)(q34;q11.2) Fluorescence in situ hybridization (FISH) Conventional chromosome analysis Pitel, Beth A. verfasserin aut Smoley, Stephanie A. verfasserin aut Smadbeck, James B. verfasserin aut Johnson, Sarah H. verfasserin aut Vasmatzis, George verfasserin aut Kearney, Hutton M. verfasserin aut Greipp, Patricia T. verfasserin aut Hoppman, Nicole L. verfasserin aut Baughn, Linda B. verfasserin aut Ketterling, Rhett P. verfasserin aut Enthalten in Human pathology New York, NY [u.a.] : Elsevier, 1970 89, Seite 109-114 Online-Ressource (DE-627)326644784 (DE-600)2041481-X (DE-576)094477272 1532-8392 nnns volume:89 pages:109-114 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.46 Klinische Pathologie 44.47 Pathologie Medizin AR 89 109-114 |
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10.1016/j.humpath.2018.09.010 doi (DE-627)ELV002581434 (ELSEVIER)S0046-8177(18)30372-1 DE-627 ger DE-627 rda eng 610 DE-600 44.46 bkl 44.47 bkl Peterson, Jess F. verfasserin aut Use of mate-pair sequencing to characterize a complex cryptic 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. Mate-pair sequencing (MPseq) Chronic myeloid leukemia (CML) t(9;22)(q34;q11.2) Fluorescence in situ hybridization (FISH) Conventional chromosome analysis Pitel, Beth A. verfasserin aut Smoley, Stephanie A. verfasserin aut Smadbeck, James B. verfasserin aut Johnson, Sarah H. verfasserin aut Vasmatzis, George verfasserin aut Kearney, Hutton M. verfasserin aut Greipp, Patricia T. verfasserin aut Hoppman, Nicole L. verfasserin aut Baughn, Linda B. verfasserin aut Ketterling, Rhett P. verfasserin aut Enthalten in Human pathology New York, NY [u.a.] : Elsevier, 1970 89, Seite 109-114 Online-Ressource (DE-627)326644784 (DE-600)2041481-X (DE-576)094477272 1532-8392 nnns volume:89 pages:109-114 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.46 Klinische Pathologie 44.47 Pathologie Medizin AR 89 109-114 |
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10.1016/j.humpath.2018.09.010 doi (DE-627)ELV002581434 (ELSEVIER)S0046-8177(18)30372-1 DE-627 ger DE-627 rda eng 610 DE-600 44.46 bkl 44.47 bkl Peterson, Jess F. verfasserin aut Use of mate-pair sequencing to characterize a complex cryptic 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. Mate-pair sequencing (MPseq) Chronic myeloid leukemia (CML) t(9;22)(q34;q11.2) Fluorescence in situ hybridization (FISH) Conventional chromosome analysis Pitel, Beth A. verfasserin aut Smoley, Stephanie A. verfasserin aut Smadbeck, James B. verfasserin aut Johnson, Sarah H. verfasserin aut Vasmatzis, George verfasserin aut Kearney, Hutton M. verfasserin aut Greipp, Patricia T. verfasserin aut Hoppman, Nicole L. verfasserin aut Baughn, Linda B. verfasserin aut Ketterling, Rhett P. verfasserin aut Enthalten in Human pathology New York, NY [u.a.] : Elsevier, 1970 89, Seite 109-114 Online-Ressource (DE-627)326644784 (DE-600)2041481-X (DE-576)094477272 1532-8392 nnns volume:89 pages:109-114 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.46 Klinische Pathologie 44.47 Pathologie Medizin AR 89 109-114 |
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Enthalten in Human pathology 89, Seite 109-114 volume:89 pages:109-114 |
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Enthalten in Human pathology 89, Seite 109-114 volume:89 pages:109-114 |
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Mate-pair sequencing (MPseq) Chronic myeloid leukemia (CML) t(9;22)(q34;q11.2) Fluorescence in situ hybridization (FISH) Conventional chromosome analysis |
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Peterson, Jess F. @@aut@@ Pitel, Beth A. @@aut@@ Smoley, Stephanie A. @@aut@@ Smadbeck, James B. @@aut@@ Johnson, Sarah H. @@aut@@ Vasmatzis, George @@aut@@ Kearney, Hutton M. @@aut@@ Greipp, Patricia T. @@aut@@ Hoppman, Nicole L. @@aut@@ Baughn, Linda B. @@aut@@ Ketterling, Rhett P. @@aut@@ |
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2018-01-01T00:00:00Z |
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610 DE-600 44.46 bkl 44.47 bkl Use of mate-pair sequencing to characterize a complex cryptic Mate-pair sequencing (MPseq) Chronic myeloid leukemia (CML) t(9;22)(q34;q11.2) Fluorescence in situ hybridization (FISH) Conventional chromosome analysis |
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Peterson, Jess F. Pitel, Beth A. Smoley, Stephanie A. Smadbeck, James B. Johnson, Sarah H. Vasmatzis, George Kearney, Hutton M. Greipp, Patricia T. Hoppman, Nicole L. Baughn, Linda B. Ketterling, Rhett P. |
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use of mate-pair sequencing to characterize a complex cryptic |
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Use of mate-pair sequencing to characterize a complex cryptic |
| abstract |
Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. |
| abstractGer |
Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. |
| abstract_unstemmed |
Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid leukemia with 2 cryptic insertional events resulting in BCR/ABL1 fusion on the derivative chromosome 9 and FNBP1/BCR fusion on the derivative chromosome 22. These insertional events were misinterpreted as a typical balanced BCR/ABL1 translocation by interphase fluorescence in situ hybridization studies and were cryptic by conventional chromosome analysis, resulting in a “normal” karyotype. Mate-pair sequencing, a novel next-generation sequencing technology that can detect and characterize structural variants with significantly higher resolution and precision compared with traditional cytogenetic methodologies, identified 2 insertional events and resolved the seemingly discrepant chromosome and fluorescence in situ hybridization results. This case demonstrates the complexities of genetic abnormalities unappreciable by traditional cytogenetic methodologies and highlights the clinical utility of mate-pair sequencing. |
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Use of mate-pair sequencing to characterize a complex cryptic |
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Pitel, Beth A. Smoley, Stephanie A. Smadbeck, James B. Johnson, Sarah H. Vasmatzis, George Kearney, Hutton M. Greipp, Patricia T. Hoppman, Nicole L. Baughn, Linda B. Ketterling, Rhett P. |
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| score |
7.4019375 |