Dic (17;20) (p11;q11) Preceded MLL Gene Amplification in a Patient with de novo Mixed-Lineage Leukemia

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概要

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• We report a case of acute mixed-lineage leukemia, as seen in a 65 year-old female with MLL gene amplification and biallelic loss of wild type p53 gene. The diagnosis was based on the findings that her bone marrow (BM) blasts expressed cytoplasmic CD3 (cyCD3), B-lineage antigens and myeloid antigens accompanied by clonal rearrangements of IgH gene. The BM blasts consisted of small-sized peroxidase-negative blasts (97%) and large-sized peroxidase-positive blasts (3%). The BM blasts showed a complex “karyotype,” including dic(17;20) (p11;q11), -5 and add (11q23). Add (11q23) abnormality was found in sideline karyotypes as well as the stemline abnormality of dic(17;20) (p11;q11). For the p53 gene, which is located at 17p13, fluorescence in situ hybridization analysis showed the loss of one of two p53 alleles. Furthermore, polymerase chain reaction-single-strand conformation polymorphism and following nucleotide sequencing showed that the p53 gene was mutated at codon 215, leading to an amino acid substitution from Ser to Arg. For the MLL gene, southern blot analysis showed that the MLL gene locus was amplified but not rearranged at its breakpoint cluster region, which is usually rearranged in balanced translocations with many partner genes. These findings suggest that MLL gene amplification may in this case be based on the genetic instability caused by the preceding biallelic loss of the wild type p53 gene. [J Clin Exp Hematopathol 50(1) : 51-58, 2010]

• 2010-05-01

著者

• MORI SHINICHIRO

  First Department of Surgery, Kagoshima University School of Medicine

• KAWANO Seiji

  Department of Clinical Laboratory, Kobe University Hospital

• AMAKAWA Ryuichi

  First Department of Internal Medicine, Kansai Medical University

• HIRAMOTO Nobuhiro

  First Department of Internal Medicine, Kansai Medical University

• HYO Akira

  First Department of Internal Medicine, Kansai Medical University

• NAKAMICHI Naoto

  First Department of Internal Medicine, Kansai Medical University

• TAJIMA Kenichiro

  First Department of Internal Medicine, Kansai Medical University

• ITO Tomoki

  First Department of Internal Medicine, Kansai Medical University

• KISHIMOTO Yuji

  First Department of Internal Medicine, Kansai Medical University

• FUKUHARA Shirou

  First Department of Internal Medicine, Kansai Medical University

• Kishimoto Yuji

  First Department Of Internal Medicine Kansai Medical University

• Kishimoto Yuji

  浜松医科大学 内科学第3

• Ito T

  First Department Of Internal Medicine Kansai Medical University

• Ito Tomoki

  関西医科大学 内科学第一講座

• Hyo Akira

  First Department Of Internal Medicine Kansai Medical University

• Ito Tomoki

  First Department Of Internal Medicine Kansai Medical University

• Kawano Seiji

  Department Of Clinical Laboratory Kobe University Hospital

• Amakawa R

  Kansai Medical Univ. Osaka Jpn

• Amakawa Ryuichi

  First Department Of Internal Medicine Kansai Medical University

• Amakawa Ryuichi

  Division Of Hematology Tenri Hospital

• Fukuhara Shirou

  First Department Of Internal Medicine Kansai Medical University

• Fukuhara Shirou

  The 1st Department Of Internal Medicine Kansai Medical University

• Nakamichi Naoto

  First Department Of Internal Medicine Kansai Medical University

• Tajima Kenichirou

  First Department Of Internal Medicine Kansai Medical University

• Hiramoto Nobuhiro

  First Department Of Internal Medicine Kansai Medical University

• Fukuhara S

  First Department Of Internal Medicine Kansai Medical University

• Kishimoto Yuji

  Kansai Medical Univ. Takii Hospital Moriguchi Jpn

• Mori Shinichiro

  First Department Of Internal Medicine Kansai Medical University

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