A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12)
We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Brassesco, María Sol [verfasserIn] Valera, Elvis Terci [verfasserIn] Meyer, Claus [verfasserIn] Marschalek, Rolf [verfasserIn] Lopes, Bruno Almeida [verfasserIn] Queiroz, Rosane Gomes de Paula [verfasserIn] Calado, Rodrigo de Tocantins [verfasserIn] Scrideli, Carlos Alberto [verfasserIn] Tone, Luiz Gonzaga [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Cancer genetics - Amsterdam [u.a.] : Elsevier Science, 2011, 228, Seite 110-114 |
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| Übergeordnetes Werk: |
volume:228 ; pages:110-114 |
| DOI / URN: |
10.1016/j.cancergen.2018.10.006 |
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| Katalog-ID: |
ELV00124955X |
|---|
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| 100 | 1 | |a Brassesco, María Sol |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) |
| 264 | 1 | |c 2018 | |
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| 520 | |a We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. | ||
| 650 | 4 | |a MLL | |
| 650 | 4 | |a pro-B ALL | |
| 650 | 4 | |a Complex translocation | |
| 650 | 4 | |a Chromosome X | |
| 650 | 4 | |a WDR45 | |
| 700 | 1 | |a Valera, Elvis Terci |e verfasserin |4 aut | |
| 700 | 1 | |a Meyer, Claus |e verfasserin |4 aut | |
| 700 | 1 | |a Marschalek, Rolf |e verfasserin |4 aut | |
| 700 | 1 | |a Lopes, Bruno Almeida |e verfasserin |4 aut | |
| 700 | 1 | |a Queiroz, Rosane Gomes de Paula |e verfasserin |4 aut | |
| 700 | 1 | |a Calado, Rodrigo de Tocantins |e verfasserin |4 aut | |
| 700 | 1 | |a Scrideli, Carlos Alberto |e verfasserin |4 aut | |
| 700 | 1 | |a Tone, Luiz Gonzaga |e verfasserin |0 (orcid)0000-0001-8821-4211 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Cancer genetics |d Amsterdam [u.a.] : Elsevier Science, 2011 |g 228, Seite 110-114 |h Online-Ressource |w (DE-627)646517635 |w (DE-600)2594323-6 |w (DE-576)338208038 |x 2210-7770 |7 nnns |
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2018 |
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10.1016/j.cancergen.2018.10.006 doi (DE-627)ELV00124955X (ELSEVIER)S2210-7762(18)30340-5 DE-627 ger DE-627 rda eng 610 DE-600 44.81 bkl Brassesco, María Sol verfasserin aut A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. MLL pro-B ALL Complex translocation Chromosome X WDR45 Valera, Elvis Terci verfasserin aut Meyer, Claus verfasserin aut Marschalek, Rolf verfasserin aut Lopes, Bruno Almeida verfasserin aut Queiroz, Rosane Gomes de Paula verfasserin aut Calado, Rodrigo de Tocantins verfasserin aut Scrideli, Carlos Alberto verfasserin aut Tone, Luiz Gonzaga verfasserin (orcid)0000-0001-8821-4211 aut Enthalten in Cancer genetics Amsterdam [u.a.] : Elsevier Science, 2011 228, Seite 110-114 Online-Ressource (DE-627)646517635 (DE-600)2594323-6 (DE-576)338208038 2210-7770 nnns volume:228 pages:110-114 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_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 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_2232 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 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 44.81 Onkologie AR 228 110-114 |
| spelling |
10.1016/j.cancergen.2018.10.006 doi (DE-627)ELV00124955X (ELSEVIER)S2210-7762(18)30340-5 DE-627 ger DE-627 rda eng 610 DE-600 44.81 bkl Brassesco, María Sol verfasserin aut A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. MLL pro-B ALL Complex translocation Chromosome X WDR45 Valera, Elvis Terci verfasserin aut Meyer, Claus verfasserin aut Marschalek, Rolf verfasserin aut Lopes, Bruno Almeida verfasserin aut Queiroz, Rosane Gomes de Paula verfasserin aut Calado, Rodrigo de Tocantins verfasserin aut Scrideli, Carlos Alberto verfasserin aut Tone, Luiz Gonzaga verfasserin (orcid)0000-0001-8821-4211 aut Enthalten in Cancer genetics Amsterdam [u.a.] : Elsevier Science, 2011 228, Seite 110-114 Online-Ressource (DE-627)646517635 (DE-600)2594323-6 (DE-576)338208038 2210-7770 nnns volume:228 pages:110-114 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_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 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_2232 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 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 44.81 Onkologie AR 228 110-114 |
| allfields_unstemmed |
10.1016/j.cancergen.2018.10.006 doi (DE-627)ELV00124955X (ELSEVIER)S2210-7762(18)30340-5 DE-627 ger DE-627 rda eng 610 DE-600 44.81 bkl Brassesco, María Sol verfasserin aut A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. MLL pro-B ALL Complex translocation Chromosome X WDR45 Valera, Elvis Terci verfasserin aut Meyer, Claus verfasserin aut Marschalek, Rolf verfasserin aut Lopes, Bruno Almeida verfasserin aut Queiroz, Rosane Gomes de Paula verfasserin aut Calado, Rodrigo de Tocantins verfasserin aut Scrideli, Carlos Alberto verfasserin aut Tone, Luiz Gonzaga verfasserin (orcid)0000-0001-8821-4211 aut Enthalten in Cancer genetics Amsterdam [u.a.] : Elsevier Science, 2011 228, Seite 110-114 Online-Ressource (DE-627)646517635 (DE-600)2594323-6 (DE-576)338208038 2210-7770 nnns volume:228 pages:110-114 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_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 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_2232 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 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 44.81 Onkologie AR 228 110-114 |
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10.1016/j.cancergen.2018.10.006 doi (DE-627)ELV00124955X (ELSEVIER)S2210-7762(18)30340-5 DE-627 ger DE-627 rda eng 610 DE-600 44.81 bkl Brassesco, María Sol verfasserin aut A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. MLL pro-B ALL Complex translocation Chromosome X WDR45 Valera, Elvis Terci verfasserin aut Meyer, Claus verfasserin aut Marschalek, Rolf verfasserin aut Lopes, Bruno Almeida verfasserin aut Queiroz, Rosane Gomes de Paula verfasserin aut Calado, Rodrigo de Tocantins verfasserin aut Scrideli, Carlos Alberto verfasserin aut Tone, Luiz Gonzaga verfasserin (orcid)0000-0001-8821-4211 aut Enthalten in Cancer genetics Amsterdam [u.a.] : Elsevier Science, 2011 228, Seite 110-114 Online-Ressource (DE-627)646517635 (DE-600)2594323-6 (DE-576)338208038 2210-7770 nnns volume:228 pages:110-114 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_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 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_2232 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 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 44.81 Onkologie AR 228 110-114 |
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10.1016/j.cancergen.2018.10.006 doi (DE-627)ELV00124955X (ELSEVIER)S2210-7762(18)30340-5 DE-627 ger DE-627 rda eng 610 DE-600 44.81 bkl Brassesco, María Sol verfasserin aut A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. MLL pro-B ALL Complex translocation Chromosome X WDR45 Valera, Elvis Terci verfasserin aut Meyer, Claus verfasserin aut Marschalek, Rolf verfasserin aut Lopes, Bruno Almeida verfasserin aut Queiroz, Rosane Gomes de Paula verfasserin aut Calado, Rodrigo de Tocantins verfasserin aut Scrideli, Carlos Alberto verfasserin aut Tone, Luiz Gonzaga verfasserin (orcid)0000-0001-8821-4211 aut Enthalten in Cancer genetics Amsterdam [u.a.] : Elsevier Science, 2011 228, Seite 110-114 Online-Ressource (DE-627)646517635 (DE-600)2594323-6 (DE-576)338208038 2210-7770 nnns volume:228 pages:110-114 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_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 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_2232 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 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 44.81 Onkologie AR 228 110-114 |
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Enthalten in Cancer genetics 228, Seite 110-114 volume:228 pages:110-114 |
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Brassesco, María Sol @@aut@@ Valera, Elvis Terci @@aut@@ Meyer, Claus @@aut@@ Marschalek, Rolf @@aut@@ Lopes, Bruno Almeida @@aut@@ Queiroz, Rosane Gomes de Paula @@aut@@ Calado, Rodrigo de Tocantins @@aut@@ Scrideli, Carlos Alberto @@aut@@ Tone, Luiz Gonzaga @@aut@@ |
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Brassesco, María Sol |
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Brassesco, María Sol ddc 610 bkl 44.81 misc MLL misc pro-B ALL misc Complex translocation misc Chromosome X misc WDR45 A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) |
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610 DE-600 44.81 bkl A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) MLL pro-B ALL Complex translocation Chromosome X WDR45 |
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Brassesco, María Sol Valera, Elvis Terci Meyer, Claus Marschalek, Rolf Lopes, Bruno Almeida Queiroz, Rosane Gomes de Paula Calado, Rodrigo de Tocantins Scrideli, Carlos Alberto Tone, Luiz Gonzaga |
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a new complex rearrangement in infant all: t(x;11;17)(p11.2;q23;q12) |
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A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) |
| abstract |
We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. |
| abstractGer |
We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. |
| abstract_unstemmed |
We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. |
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A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12) |
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Valera, Elvis Terci Meyer, Claus Marschalek, Rolf Lopes, Bruno Almeida Queiroz, Rosane Gomes de Paula Calado, Rodrigo de Tocantins Scrideli, Carlos Alberto Tone, Luiz Gonzaga |
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| score |
7.399906 |