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A Case of Therapy-related Acute Lymphoblastic Leukemia with t(11;19) (q23;p13.3) and MLL/MLLT1 Gene Rearrangement

이창규|조윤정|남명현|윤수영|임채승|이갑노|성화정|유병준
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2011.01|Annals of Laboratory Medicine|제31권 제1호|pp. 13-17

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키워드

Breast cancerMLL gene rearrangementSecondary leukemiaTherapy-related ALL
주제분류병리학

초록

Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11q23 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;p13.3) 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;p13.3)[4]/46,XX[16]. FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the MLL-MLLT1 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;p13.3) and the 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 11q23 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;p13.3) 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;p13.3)[4]/46,XX[16]. FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the MLL-MLLT1 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;p13.3) and the MLL-MLLT1 gene rearrangement.

참고문헌 (21)

  1. Zhang Y, "Secondary acute leukaemias with 11q23 rearrangement: clinical, cytogenetic, FISH and FICTION studies", Br J Haematol, 92, pp.673~680 (1996)
  2. Ishizawa S, "High frequency of pro-B acute lymphoblastic leukemia in adults with secondary leukemia with 11q23 abnormalities", Leukemia, 17, pp.1091~1095 (2003)
  3. Pagano L, "Clinical and epidemiological features of acute lymphoblastic leukemia following a previous malignancy", Leuk Lymphoma, 39, pp.465~475 (2000)
  4. Secker-Walker LM, "Secondary acute leukemia and myelodysplastic syndrome with 11q23 abnormalities", EU Concerted Action 11q23 Workshop, pp.840~844 (1998)
  5. Chen W, "Therapy-related acute lymphoblastic leukemia without 11q23 abnormality: report of six cases and a literature review", Am J Clin Pathol, 133, pp.75~82 (2010)
  6. Hrusák O, "Antigen expression patterns reflecting genotype of acute leukemias", Leukemia, 16, pp.1233~1258 (2002)
  7. Andersen MK, "Therapy-related acute lymphoblastic leukaemia with MLL rearrangements following DNA topoisomerase II inhibitors, an increasing problem: report on two new cases and review of the literature since 1992", Br J Haematol, 114, pp.539~543 (2001)
  8. 조진희, "A Case of Therapy-related ALL with MLL Gene Rearrangement Following Treatment of Breast Cancer", Annals of Laboratory Medicine, 30(3), pp.255~259 (2010), 대한진단검사의학회
  9. Thandla S, "Therapy-related T cell lymphoblastic lymphoma with t(11;19)(q23;p13) and MLL gene rearrangement", Leukemia, 13, pp.2116~2118 (1999)
  10. Kobayashi Y, "HRX gene rearrangement in acute lymphoblastic leukemia after adjuvant chemotherapy of breast cancer", Blood, 82, pp.3220~3221 (1993)
  11. Burmeister T, "The MLL recombinome of adult CD10-negative B-cell precursor acute lymphoblastic leukemia: results from the GMALL study group", Blood, 113, pp.4011~4015 (2009)
  12. Huret JL, "Cytogenetic heterogeneity in t(11;19) acute leukemia: clinical, hematological and cytogenetic analyses of 48 patients--updated published cases and 16 new observations", Leukemia, 7, pp.152~160 (1993)
  13. Mitani K, "Heterogeneity in the breakpoints of chromosome 19 among acute leukemic patients with the t(11;19)(q23;p13) translocation", Am J Hematol, 31, pp.253~257 (1989)
  14. Hudson MM, "Childhood acute leukemia with t(11;19) (q23;p13)", Leukemia, 5, pp.1064~1068 (1991)
  15. Moorman AV, "The translocations, t(11;19)(q23;p13.1) and t(11;19)(q23;p13.3): a cytogenetic and clinical profile of 53 patients", European 11q23 Workshop participants, pp.805~810 (1998)
  16. Fu JF, "Analysis of acute leukemias with MLL", ENL fusion transcripts: identification of two novel breakpoints in ENL, 2007, pp.127, 24~30
  17. Rubnitz JE, "Childhood acute lymphoblastic leukemia with the MLL-ENL fusion and t(11;19)(q23;p13.3) translocation", J Clin Oncol, 17, pp.191~196 (1999)
  18. Pui CH, "11q23", MLL rearrangement confers a poor prognosis in infants with acute lymphoblastic leukemia, 1994, pp.12, 909~915
  19. Rubnitz JE, "Frequency and prognostic significance of HRX rearrangements in infant acute lymphoblastic leukemia: a Pediatric Oncology Group study", Blood, 84, pp.570~573 (1994)
  20. Schoch C, "AML with 11q23", MLL abnormalities as defined by the WHO classification: incidence, partner chromosomes, FAB subtype, age distribution, and prognostic impact in an unselected series of 1897 cytogenetically analyzed AML cases, 2003, pp.102, 2395~2402
  21. Pui CH, "Clinical heterogeneity in childhood acute lymphoblastic leukemia with 11q23 rearrangements", Leukemia, 17, pp.700~706 (2003)

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