OJBD  Vol.4 No.4 , December 2014
New Variant Translocation (8;9;21)(q22;p24;q22) in a Patient with Granulocytic Sarcoma Concurrent with Acute Myeloid Leukemia
ABSTRACT
Granulocytic sarcoma is a form of acute myeloid leukemia which may occur in any anatomical site. Isolated pancreatic granulocytic sarcoma is however, extremely rare. Translocation t(8;21) is the most common cytogenetic abnormality found in leukemia patients with granulocytic sarcoma and is associated with a relatively good prognosis when treated with chemotherapy. Variants of the t(8;21) are uncommon and account for approximately 3% to 4% of acute myeloid leukemia associated with t(8;21) and are rarely described in acute myeloid leukemia cases associated with granulocytic sarcoma. We report here a patient with acute myeloid leukemia and a novel variant t(8;9;21)(q22;p24;q22) with suspected granulocytic sarcoma in pancreas. A dual-color fluorescence in situ hybridization analysis with RUNX1T1 and RUNX1 probes, revealed the presence of an RUNX1/RUNX1T1 fusion signal in this translocation. To the best of our knowledge, a variant of t(8;21) in GS was rarely described and the involvement of the 9q22 region is the first time described here even in isolated AML-M2. We conclude that further accumulation of similar cases is needed and that genetic exploring of variants of t(8;21) may be helpful for a better understanding of molecular pathogenetic mechanism.

Cite this paper
Abir, G. , Ines, W. , Sondes, M. , Ramzi, J. , Balkis, M. , Ali, S. and Hlima, S. (2014) New Variant Translocation (8;9;21)(q22;p24;q22) in a Patient with Granulocytic Sarcoma Concurrent with Acute Myeloid Leukemia. Open Journal of Blood Diseases, 4, 43-49. doi: 10.4236/ojbd.2014.44006.
References
[1]   Neiman, R.S., Barcos, M., Berard, C., Bonner, H., Mann, R., Rydell, R.E. and Bennett, J.M. (1981) Granulocytic Sarcoma: A Clinicopathologic Study of 61 Biopsied Cases. Cancer, 48, 1426-1437.
http://dx.doi.org/10.1002/1097-0142(19810915)48:6<1426::AID-CNCR2820480626>3.0.CO;2-G

[2]   Rong, Y., Wang, D., Lou, W., Kuang, T. and Jin, D. (2010) Granulocytic Sarcoma of the Pancreas: A Case Report and Review of the Literatures. BMC Gastroenterology, 10, 80.
http://dx.doi.org/10.1186/1471-230X-10-80

[3]   Tallman, M.S., Hakimian, D., Shaw, J.M., Lissner, G.S., Russell, E.J. and Variakojis, D. (1993) Granulocytic Sarcoma Is Associated with the 8;21 Translocation in Acute Myeloid Leukemia. Journal of Clinical Oncology, 11, 690-697.

[4]   Ishii, Y., Sashida, G., Takaku, T.I., Sumi, M., Nakajima, A. and Ohyashiki, K. (2005) Cryptic Chromosomal Anomaly in a Patient with Acute Myeloid Leukaemia Leading to AML1-ETO Fusion with Unfavourable Prognostic Factors. Cancer Genetics and Cytogenetics, 160, 94-95.
http://dx.doi.org/10.1016/j.cancergencyto.2004.11.006

[5]   Ishida, F., Ueno, M., Tanaka, H., Makishima, H., Suzawa, K., Hosaka, S., Hidaka, E., Ishikawa, M., Yamauchi, K., Kitano, K. and Kiyosawa, K. (2002) t(8;21;14)(q22;q22;q24) Is a Novel Variant of t(8;21) with Chimeric Transcripts of AML1-ETO in Acute Myelogenous Leukemia. Cancer Genetics and Cytogenetics, 32, 133-135.
http://dx.doi.org/10.1016/S0165-4608(01)00550-7

[6]   Xue, Y., Xu, L., Chen, S., Fu, J., Guo, Y., Li, J., Wu, Y., Pan, J. and Lu, D. (2001) t(8;21;8)(p23;q22;q22): A New Variant Form of t(8;21) Translocation in Acute Myeloblastic Leukemia with Maturation. Leukemia/Lymphoma, 42, 533-537.
http://dx.doi.org/10.3109/10428190109064613

[7]   Nucifora, G. and Rowley, J.D. (1995) AML1 and the 8;21 and 3;21 Translocations in Acute and Chronic Myeloid Leukemia. Blood, 86, 1-14.

[8]   Piccaluga, P.P., Ascani, S., Agostinelli, C., Paolini, S., Laterza, C., Papayannidis, C., Martinelli, G., Visani, G., Baccarani, M. and Pileri, S.A. (2007) Myeloid Sarcoma of Liver: An Unusual Cause of Jaundice. Report of Three Cases and Review of Literature. Histopathology, 50, 802-805.
http://dx.doi.org/10.1111/j.1365-2559.2007.02645.x

[9]   Sennana, S.H., Elghezal, H., Temmi, H., Gribaa, M., Laatiri, A., Ben Abid, H., Ben Abdeladhime, A., Elloumi, M., Hafsia, A. and Saad, A. (2002) Cytogenetic Analysis in 139 Tunisian Patients with de Novo Acute Myeloid Leukemia. Annals of Genetics, 45, 29-32.
http://dx.doi.org/10.1016/S0003-3995(02)01098-5

[10]   Mitelman, F. (2009) An International System for Human Cytogenetic Nomenclature (ISCN): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. S. Karger, Basel.

[11]   Gmidène, A., Elghezal, H., Sennana, H., Ben Youssef, Y., Meddeb, B., Elloumi, M., Khlif, A. and Saad, A. (2009) ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia. Advances in Hematology, 2009, Article ID: 924301.

[12]   Servin-Abad, L., Caldera, H., Cardenas, R. and Casillas, J. (2003) Granulocytic Sarcoma of the Pancreas. A Report of One Case and Review of the Literature. Acta Haematologica, 110, 188-192.
http://dx.doi.org/10.1159/000074223

[13]   Dimicoli, S., Feugier, P., Delaby, P., Cannard, L., Bland, V., Witz, F., Hulin, C., Guerci, A., Labouyrie, E. and Lederlin, P. (2002) Granulocyte Sarcoma of the Pancreas without Extra-Pancreatic Location. Presse Medicale, 31, 1024-1026.

[14]   Zhang, J.H., Liu, Z.G., Shao, H., Ma, Y., Tong, H.X. and Wang, Y.X. (2008) Laboratory Study of a Complex Translocation t(2;8;21)(p12;q22;q22) in a Patient with Acute Myelogenous Leukaemia. Leukemia & Lymphoma, 49, 1925-1928.
http://dx.doi.org/10.1080/10428190802311383

[15]   Kawakami, K., Nishii, K., Hyou, R., Watanabe, Y., Nakao, M., Mitani, H., Murata, T., Monma, F., Yamamori, S., Hosokai, N. and Miura, I. (2008) A Case of Acute Myeloblastic Leukemia with a Novel Variant of t(8;21)(q22;q22). International Journal of Hematology, 87, 78-82.
http://dx.doi.org/10.1007/s12185-007-0010-2

[16]   Gmidène, A., Frikha, R., Sennana, H., Elghezal, H., Elloumi, M. and Saad, A. (2011) T(1;21;8)(p34;q22;q22): A Novel Variant of t(8;21) in Acute Myeloblastic Leukemia with Maturation. Medical Oncology, 28, 509-512.
http://dx.doi.org/10.1007/s12032-010-9703-0

[17]   Giles, F.J., Kanemaki, T.J., Schreck, R.R., Qasabian, L., Fuerst, M.P. and Lim, S.W. (1998) Translocation (3;21;8)(q21;q22;q22) in a Patient with Acute Myeloid Leukemia: A Case Report and Review of Prognostic Indicators. Cancer Genetics and Cytogenetics, 104, 66-69.
http://dx.doi.org/10.1016/S0165-4608(97)00438-X

[18]   Maseki, N., Miyoshi, H., Shimizu, K., Homma, C., Ohki, M., Sakurai, M. and Kaneko, Y. (1993) The 8;21 Chromosome Translocation in Acute Myeloid Leukemia Is Always Detectable by Molecular Analysis Using AML1. Blood, 81, 1573-1579.

[19]   Kikuchi, A., Hanada, R. and Yamamoto, K. (1999) Novel Three-Way Translocation t(5;8;21) in Acute Myeloblastic Leukemia (M2) with Chloroma. Journal of Pediatric Hematology/Oncology, 21, 452-454.
http://dx.doi.org/10.1097/00043426-199909000-00024

[20]   Shinagawa, A., Komatsu, T. and Ninomiya, H. (1999) Complex Translocation (6;21;8), a Variant of t(8;21), with Trisomy 4 in a Patient with Acute Myelogenous Leukemia (M2). Cancer Genetics and Cytogenetics, 109, 72-75.
http://dx.doi.org/10.1016/S0165-4608(98)00121-6

[21]   Gallego, M., Carroll, A.J., Gad, G.S., Pappo, A., Head, D., Behm, F., Ravindranath, Y. and Raimondi, S.C. (1994) Variant t(8;21) Rearrangements in Acute Myeloblastic Leukemia of Childhood. Cancer Genetics and Cytogenetics, 75, 139-144.
http://dx.doi.org/10.1016/0165-4608(94)90166-X

[22]   Lee, J.Y., Kern, W.F., Cain, J.B., Mulvihill, J.J. and Li, S.B. (2005) A Variant t(8;10;21) in a Patient with Pathological Features Mimicking Atypical Chronic Myeloid Leukemia. Cancer Genetics and Cytogenetics, 159, 79-83.
http://dx.doi.org/10.1016/j.cancergencyto.2004.10.002

[23]   Minamihisamatsu, M. and Ishihara, T. (1988) Translocation (8;21) and Its Variants in Acute Nonlymphocytic Leukemia: The Relative Importance of Chromosomes 8 and 21 to the Genesis of the Disease. Cancer Genetics and Cytogenetics, 33, 161-173.
http://dx.doi.org/10.1016/0165-4608(88)90026-X

[24]   Farra, C., Awwad, J., Valent, A., Lozach, F. and Bernheim, A. (2004) Complex Translocation (8;12;21): A New Variant of t(8;21) in Acute Myeloid Leukaemia. Cancer Genetics and Cytogenetics, 155, 138-142.
http://dx.doi.org/10.1016/j.cancergencyto.2004.03.016

[25]   Udayakumar, A.M., Alkindi, S., Pathare, A.V. and Raeburn, J.A. (2008) Complex t(8;13;21)(q22;q14;q22): A Novel Variant of t(8;21) in a Patient with Acute Myeloid Leukemia (AML-M2). Archives of Medical Research, 39, 252-256.
http://dx.doi.org/10.1016/j.arcmed.2007.09.002

[26]   Takahashi, T., Maruyama, Y., Satoh, Y., Yoshimoto, M. and Tsujisaki, M. (2004) Complex t(8;14;21)(q22;q13;q22), a Variant of t(8;21), with t(15;21)(q15;p11) in a Patient with Acute Myelogenous Leukemia (M1). Cancer Genetics and Cytogenetics, 155, 152-153.
http://dx.doi.org/10.1016/j.cancergencyto.2004.03.009

[27]   Watanabe, A., Koike, K., Fukushima, T., Izumi, I., Ohba, K. and Tsuchida, M. (2001) Complex Translocation (8;15;21)(q22;p12;q22) in a Child with AMLM2 Showing de Novo Appearance of the Short Form of AML1 MTG8 Chimeric mRNA during the Course. Rinsho Ketsueki, 42, 110-114.

[28]   Vieira, L., Oliveira, V., Ambrosio, A.P., Marques, B., Pereira, A.M., Hagemeijer, A. and Boavida, M.G. (2001) Translocation (8;17;15;21)(q22;q23;q15;q22) in Acute Myeloid Leukemia (M2): A Four-Way Variant of t(8;21). Cancer Genetics and Cytogenetics, 128, 104-107.
http://dx.doi.org/10.1016/S0165-4608(01)00404-6

[29]   Harrison, C.J., Radford-Weiss, I., Ross, F., Rack, K., le Guyader, G., Vekemans, M. and Macintyre, E. (1999) Fluorescence in Situ Hybridization Analysis of Masked (8;21)(q22;q22) Translocations. Cancer Genetics and Cytogenetics, 112, 15-20.
http://dx.doi.org/10.1016/S0165-4608(98)00244-1

[30]   Wong, K.F., Kwong, Y.L. and So, C.C. (1998) Translocation (8;20;21)(q22;q13;q22) in Acute Myeloblastic Leukemia with Maturation: A Variant Form of t(8;21). Cancer Genetics and Cytogenetics, 101, 39-41.
http://dx.doi.org/10.1016/S0165-4608(97)00033-2

[31]   Kokate, P., Ahmad, F., Dalvi, R., Das, B.R. and Mandava, S. (2008) Molecular Cytogenetic Investigations in a Novel Complex Variant of t(8;21)(q22;q22) with ins(15;21)(q15;q22.2q22.3) in a Patient with AML-M2 Subtype. Cancer Genet Cytogenet, 184, 52-56.
http://dx.doi.org/10.1016/j.cancergencyto.2008.03.008

[32]   Lee, J.W., Kim, Y.G., Soung, Y.H., Han, K.J., Kim, S.Y., Rhim, H.S., Min, W.S., Nam, S.W., Park, W.S., Lee, J.Y., Yoo, N.J. and Lee, S.H. (2006) The JAK2 V617F Mutation in de Novo Acute Myelogenous Leukemias. Oncogenomics, 25, 1434-1436.
http://dx.doi.org/10.1038/sj.onc.1209163

[33]   Pallis, M., Seedhouse, C., Grundy, M. and Russell, N. (2003) Flow Cytometric Measurement of Phosphorylated STAT5 in AML: Lack of Specific Association with FLT3 Internal Tandem Duplications. Leukemia Research, 27, 803-805.
http://dx.doi.org/10.1016/S0145-2126(03)00012-2

[34]   Verma, A., Kambhampati, S., Parmar, S. and Platanias, L.C. (2003) Jak Family of Kinases in Cancer. Cancer and Metastasis Reviews, 22, 423-434.
http://dx.doi.org/10.1023/A:1023805715476

[35]   Vicente, C., Vázquez, I., Marcotegui, N., Conchillo, A., Carranza, C., Rivell, G., Bandrés, E., Cristobal, I., Lahortiga, I., Calasanz, M.J. and Odero, M.D. (2007) JAK2-V617F Activating Mutation in Acute Myeloid Leukemia: Prognostic Impact and Association with Other Molecular Markers. Leukemia, 21, 2386-2390.
http://dx.doi.org/10.1038/sj.leu.2404812

[36]   Steensma, D.P., McClure, R.F., Karp, J.E., Tefferi, A., Lasho, T.L., Powell, H.L., DeWald, G.W. and Kaufmann, S.H. (2006) JAK2 V617F Is a Rare Finding in de Novo Acute Myeloid Leukemia, but STAT3 Activation Is Common and Remains Unexplained. Leukemia, 20, 971-978.
http://dx.doi.org/10.1038/sj.leu.2404206

 
 
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