A case of therapy-related acute lymphoblastic leukemia with t(11;19) (q23;p13.3) and MLL/MLLT1 gene rearrangement

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Abstract

Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11 q23 abnormalities are the most common karyotypic alterations in t-ALL.The t(11;19)(q23;p13) aberration is extremely rare and has not been confirmed at the molecular genetic level. Here, we report a case of t-ALL with t(11;19)(q23;p133) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer. A 40-yr-old woman developed acute leukemia 15 months after undergoing 6 cycles of adjuvant chemotherapy (doxorubicin 60 mg/m2 and cyclophosphamide 600 mg/m2), radiation therapy (dose, 5,900 cGy), and anticancer endocrine therapy with tamoxifen. The complete blood cell counts and bone marrow examination showed increased blasts and the blasts showed B lineage immunophenotype (positive for CD19, CD34, and cytoplasmic CD79a). Cytogenetic analysis revealed the karyotype 47,XX,+X,t(11;19)(q23;p133)[4]/46,XX[16]. FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the Mi-Mil? gene rearrangement. The patient underwent induction chemotherapy with fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone (Hyper-CVAD) and achieved complete remission. Subsequently, she underwent consolidation chemotherapy, but died of brain ischemia in the pons and the region of the middle cerebral artery. To our knowledge, this is the first case report of t-ALL with t(11;19)(q23;p133) and the MLL-MLLT1 gene rearrangement.

Original languageEnglish
Pages (from-to)13-17
Number of pages5
JournalKorean Journal of Laboratory Medicine
Volume31
Issue number1
DOIs
Publication statusPublished - 2011 Jan 1

Fingerprint

Chemotherapy
Gene Rearrangement
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Genes
Radiotherapy
Transcription
Doxorubicin
Cyclophosphamide
Blood Cell Count
Cytogenetic Analysis
DNA Sequence Analysis
Reverse Transcription
DNA
Leukemia
Vincristine
Tamoxifen
Therapeutics
Aberrations
Consolidation Chemotherapy
Consolidation

Keywords

  • Breast cancer
  • MLL gene rearrangement
  • Secondary leukemia
  • Therapy-related ALL

ASJC Scopus subject areas

  • Biochemistry, medical
  • Clinical Biochemistry

Cite this

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title = "A case of therapy-related acute lymphoblastic leukemia with t(11;19) (q23;p13.3) and MLL/MLLT1 gene rearrangement",
abstract = "Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11 q23 abnormalities are the most common karyotypic alterations in t-ALL.The t(11;19)(q23;p13) aberration is extremely rare and has not been confirmed at the molecular genetic level. Here, we report a case of t-ALL with t(11;19)(q23;p133) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer. A 40-yr-old woman developed acute leukemia 15 months after undergoing 6 cycles of adjuvant chemotherapy (doxorubicin 60 mg/m2 and cyclophosphamide 600 mg/m2), radiation therapy (dose, 5,900 cGy), and anticancer endocrine therapy with tamoxifen. The complete blood cell counts and bone marrow examination showed increased blasts and the blasts showed B lineage immunophenotype (positive for CD19, CD34, and cytoplasmic CD79a). Cytogenetic analysis revealed the karyotype 47,XX,+X,t(11;19)(q23;p133)[4]/46,XX[16]. FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the Mi-Mil? gene rearrangement. The patient underwent induction chemotherapy with fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone (Hyper-CVAD) and achieved complete remission. Subsequently, she underwent consolidation chemotherapy, but died of brain ischemia in the pons and the region of the middle cerebral artery. To our knowledge, this is the first case report of t-ALL with t(11;19)(q23;p133) and the MLL-MLLT1 gene rearrangement.",
keywords = "Breast cancer, MLL gene rearrangement, Secondary leukemia, Therapy-related ALL",
author = "Yoo, {Byong Joon} and Myung-Hyun Nam and Sung, {Hwa Jung} and Lim, {Chae Seung} and Lee, {Chang Kyu} and Yunjung Cho and Lee, {Kap No} and Soo-Young Yoon",
year = "2011",
month = "1",
day = "1",
doi = "10.3343/kjlm.2011.31.1.13",
language = "English",
volume = "31",
pages = "13--17",
journal = "Annals of Laboratory Medicine",
issn = "2234-3806",
publisher = "Seoul National University",
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T1 - A case of therapy-related acute lymphoblastic leukemia with t(11;19) (q23;p13.3) and MLL/MLLT1 gene rearrangement

AU - Yoo, Byong Joon

AU - Nam, Myung-Hyun

AU - Sung, Hwa Jung

AU - Lim, Chae Seung

AU - Lee, Chang Kyu

AU - Cho, Yunjung

AU - Lee, Kap No

AU - Yoon, Soo-Young

PY - 2011/1/1

Y1 - 2011/1/1

N2 - Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11 q23 abnormalities are the most common karyotypic alterations in t-ALL.The t(11;19)(q23;p13) aberration is extremely rare and has not been confirmed at the molecular genetic level. Here, we report a case of t-ALL with t(11;19)(q23;p133) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer. A 40-yr-old woman developed acute leukemia 15 months after undergoing 6 cycles of adjuvant chemotherapy (doxorubicin 60 mg/m2 and cyclophosphamide 600 mg/m2), radiation therapy (dose, 5,900 cGy), and anticancer endocrine therapy with tamoxifen. The complete blood cell counts and bone marrow examination showed increased blasts and the blasts showed B lineage immunophenotype (positive for CD19, CD34, and cytoplasmic CD79a). Cytogenetic analysis revealed the karyotype 47,XX,+X,t(11;19)(q23;p133)[4]/46,XX[16]. FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the Mi-Mil? gene rearrangement. The patient underwent induction chemotherapy with fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone (Hyper-CVAD) and achieved complete remission. Subsequently, she underwent consolidation chemotherapy, but died of brain ischemia in the pons and the region of the middle cerebral artery. To our knowledge, this is the first case report of t-ALL with t(11;19)(q23;p133) and the MLL-MLLT1 gene rearrangement.

AB - Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11 q23 abnormalities are the most common karyotypic alterations in t-ALL.The t(11;19)(q23;p13) aberration is extremely rare and has not been confirmed at the molecular genetic level. Here, we report a case of t-ALL with t(11;19)(q23;p133) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer. A 40-yr-old woman developed acute leukemia 15 months after undergoing 6 cycles of adjuvant chemotherapy (doxorubicin 60 mg/m2 and cyclophosphamide 600 mg/m2), radiation therapy (dose, 5,900 cGy), and anticancer endocrine therapy with tamoxifen. The complete blood cell counts and bone marrow examination showed increased blasts and the blasts showed B lineage immunophenotype (positive for CD19, CD34, and cytoplasmic CD79a). Cytogenetic analysis revealed the karyotype 47,XX,+X,t(11;19)(q23;p133)[4]/46,XX[16]. FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the Mi-Mil? gene rearrangement. The patient underwent induction chemotherapy with fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone (Hyper-CVAD) and achieved complete remission. Subsequently, she underwent consolidation chemotherapy, but died of brain ischemia in the pons and the region of the middle cerebral artery. To our knowledge, this is the first case report of t-ALL with t(11;19)(q23;p133) and the MLL-MLLT1 gene rearrangement.

KW - Breast cancer

KW - MLL gene rearrangement

KW - Secondary leukemia

KW - Therapy-related ALL

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U2 - 10.3343/kjlm.2011.31.1.13

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