Two more inv(16) acute myeloid leukemia cases with infrequent CBFbeta-MYH11 fusion transcript: clinical and molecular findings.

نویسندگان

  • Giovanni Martinelli
  • Emanuela Ottaviani
  • Silvia Buonamici
  • Alessandro Isidori
  • Michele Malagola
  • Pierpaolo Piccaluga
  • Michele Baccarani
چکیده

1. Imamura T, Fujita S, Ohta Y, Hanada M, Yanase T. Hemoglobin Yoshizuka (G10(108) β asparagine → aspartic acid): a new variant with a reduced oxygen affinity from a Japanese family. J Clin Invest 1969; 48:2341–8. 2. Moo-Penn WF, Wolff JA, Simon G, Vacek M, Jue DL, Johnson MH. Hemoglobin Presbyterian: β108 (G10) asparagine leads to lysine, a hemoglobin variant with low oxygen affinity. FEBS Lett 1978; 92:53–6. 3. Kohne E, Behnken LJ, Leupold D, Rogge H, Martin H, Kleihauer E. Hemoglobin Presbyterian [β108 (G10) Asn replaced by Lys] in a German family. Hemoglobin 1979; 3:365–70. 4. Horst J, Oehme R, Kleihauer E, Kohne E. DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian β-globin gene. Hum Genet 1983; 64:2636. 5. Huisman THT, Carver MFH, Efremov GD. A Syllabus of Human Hemoglobin Variants. The Sickle Cell Anemia Foundation, Augusta, GA, USA; 1996. p. 240–1. 6. Frischknecht H, Spcich R, Bloch KE, Fehr J, Tuchschmid P, Jenni R. Hb Schlierbach or β108(G10)Asn→Ile: A new variant with low oxygen affinity detected in a Swiss family. Hemoglobin 1999; 23:83–7. 7. Harano K, Harano T, Shibata S, Mori H, Ueda S, Imai K, Seki M. Hemoglobin Presbyterian [β108 (G10) Asn→Lys] found in Japan. Hemoglobin 1984; 8:407–11. 8. Tsai C-H, Shen TJ, Ho NT, Ho C. Effects of substitutions of lysine and aspartic acid for asparagine at β108 and of tryptophan for valine at α96 on the structural and functional properties of human normal adult hemoglobin: roles of α1β1 and α1β2 subunit interfaces in the cooperative oxygenation process. Biochemistry 1999; 38:8751–61. 9. O’Donnell JK, Birch P, Parsons CT, White SP, Okabe J, Martin MJ, et al. Influence of the chemical nature of side chain at β108 of hemoglobin A on the modulation of the oxygen affinity by chloride ions. J Biol Chem 1994; 269:27692–9. 10. Ma SK, Ha SY, Chan AYY, Chan GCF, Lau YL, Chan LC. Two novel β-thalassemia alleles in the Chinese: the IVS-II-2 (–T) and nucleotide +8 (C→T) β-globin gene mutations. Hemoglobin 2000; 24:327–32. 11. Villegas A, Wilson JB, Chen SS, Calero F, Reinares L, Huisman THJ, et al. Haemoglobin Presbyterian [β 108 (G10) Asn →Lys] in a Spanish family. Acta Haematologica 1986; 76: 161–3. Two more inv(16) acute myeloid leukemia cases with infrequent CBFβ-MYH11 fusion transcript: clinical and molecular findings

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Human CD34+ cells expressing the inv(16) fusion protein exhibit a myelomonocytic phenotype with greatly enhanced proliferative ability.

The t(16:16) and inv(16) are associated with FAB M4Eo myeloid leukemias and result in fusion of the CBFB gene to the MYH11 gene (encoding smooth muscle myosin heavy chain [SMMHC]). Knockout of CBFbeta causes embryonic lethality due to lack of definitive hematopoiesis. Although knock-in of CBFB-MYH11 is not sufficient to cause disease, expression increases the incidence of leukemia when combined...

متن کامل

Transcriptional repression of the RUNX3/AML2 gene by the t(8;21) and inv(16) fusion proteins in acute myeloid leukemia.

RUNX3/AML2 is a Runt domain transcription factor like RUNX1/AML1 and RUNX2/AML3. Regulated by 2 promoters P1 and P2, RUNX3 is frequently inactivated by P2 methylation in solid tumors. Growing evidence has suggested a role of this transcription factor in hematopoiesis. However, genetic alterations have not been reported in blood cancers. In this study on 73 acute myeloid leukemia (AML) patients ...

متن کامل

Role of Cbfb in hematopoiesis and perturbations resulting from expression of the leukemogenic fusion gene Cbfb-MYH11.

Core-binding factor beta (CBFbeta) and CBFalpha2 form a heterodimeric transcription factor that plays an important role in hematopoiesis. The genes encoding either CBFbeta or CBFalpha2 are involved in chromosomal rearrangements in more than 30% of cases of acute myeloid leukemia (AML), suggesting that CBFbeta and CBFalpha2 play important roles in leukemogenesis. Inv(16)(p13;q22) is found in alm...

متن کامل

Acute myeloid leukemia with cryptic CBFB-MYH11 type D.

A 77 year-old female was found with FAB M4Eo acute myeloid leukemia. Although CBFB-MYH11 mRNA was detected in RT-PCR, the conventional cytogenetic analysis failed to reveal inv(16). Fluorescence in situ hybridization (FISH) and the sequence analysis revealed a fusion between the exon 5 of CBFB and the exon 8 of MYH11, resulting in a minor variant fusion product previously reported as type D. In...

متن کامل

FLT3-ITD cooperates with inv(16) to promote progression to acute myeloid leukemia.

The inversion of chromosome 16 in the inv(16)(p13q22) is one of the most frequent cytogenetic abnormalities observed in acute myeloid leukemia (AML). The inv(16) fuses the core binding factor (CBF) beta subunit with the coiled-coil rod domain of smooth muscle myosin heavy chain (SMMHC). Expression of CBFbeta-SMMHC in mice does not promote AML in the absence of secondary mutations. Patient sampl...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Haematologica

دوره 87 5  شماره 

صفحات  -

تاریخ انتشار 2002