1. Department of Haematology, Qilu Hospital, Shandong University, Jinan 250012, China 2. Department of Haematology, The Affiliated Hospital of Qingdao University, Qingdao 266000, China 3. PET/CT Center, The Affiliated Hospital of Qingdao University, Qingdao 266000, China 4. Department of Hepatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266000, China 5. Department of Haematology, Qingdao University Medical College, Qingdao 266071, China
Philadelphia chromosome-positive acute myeloid leukemia is controversial and difficult to distinguish from the blast phase of chronic myeloid leukemia. As a myeloid neoplasm, rare cases of this leukemia manifest multiple soft-tissue tumors or bone lytic lesions. In this paper, we describe a 49-year-old male patient who had an abrupt onset with sharp chest pain, fever, fatigue, emaciation, and splenomegaly. 18F-fluoro-deoxy-glucose positron emission tomography/computed tomography (18F-FDG PET/CT) result showed diffuse and uneven hypermetabolic lesions in the bone marrow with peripheral bone marrow expansion, multiple soft tissue neoplasms with high 18F-FDG uptake, and lytic bone lesions. Bone marrow smear and biopsy detected aberrant blast cells expressing myeloid rather than lymphoid immunophenotype marker. For the existence of Philadelphia chromosome and BCR-ABL1 fusion gene together with complex chromosome abnormalities, a diagnosis of Philadelphia-positive acute myeloid leukemia was made, although the type (de novo or blast crisis) remained unclear.
Frankfurt O, Platanias LC. Philadelphia chromosome positive acute myeloid leukemia or de novo chronic myeloid leukemia-blast phase? Leuk Lymphoma 2013; 54(1): 1–2 https://doi.org/10.3109/10428194.2012.713105
pmid: 22891690
2
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC, 2008
3
Dutta S, Kumari P, Natraj KS, Mandal PK, Saha S, Bagchi B, Choudhuri S, Dolai TK. Philadelphia chromosome-positive myelodysplastic syndrome: is it a distinct entity? Acta Haematol 2013; 129(4): 215–217 https://doi.org/10.1159/000345263
pmid: 23295538
Soupir CP, Vergilio JA, Dal Cin P, Muzikansky A, Kantarjian H, Jones D, Hasserjian RP. Philadelphia chromosome-positive acute myeloid leukemia: a rare aggressive leukemia with clinicopathologic features distinct from chronic myeloid leukemia in myeloid blast crisis. Am J Clin Pathol 2007; 127(4): 642–650 https://doi.org/10.1309/B4NVER1AJJ84CTUU
pmid: 17369142
6
Cuneo A, Ferrant A, Michaux JL, Demuynck H, Boogaerts M, Louwagie A, Doyen C, Stul M, Cassiman JJ, Dal Cin P, Castoldi G, Van den Berghe H. Philadelphia chromosome-positive acute myeloid leukemia: cytoimmunologic and cytogenetic features. Haematologica 1996; 81(5): 423–427
pmid: 8952155
7
Keung YK, Beaty M, Powell BL, Molnar I, Buss D, Pettenati M. Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia-retrospective study and review of literature. Leuk Res 2004; 28(6): 579–586 https://doi.org/10.1016/j.leukres.2003.10.027
pmid: 15120934
8
Konoplev S, Yin CC, Kornblau SM, Kantarjian HM, Konopleva M, Andreeff M, Lu G, Zuo Z, Luthra R, Medeiros LJ, Bueso-Ramos CE. Molecular characterization of de novo Philadelphia chromosome-positive acute myeloid leukemia. Leuk Lymphoma 2013; 54(1): 138–144 https://doi.org/10.3109/10428194.2012.701739
pmid: 22691121
9
Nacheva EP, Grace CD, Brazma D, Gancheva K, Howard-Reeves J, Rai L, Gale RE, Linch DC, Hills RK, Russell N, Burnett AK, Kottaridis PD. Does BCR/ABL1 positive acute myeloid leukaemia exist? Br J Haematol 2013; 161(4): 541–550 https://doi.org/10.1111/bjh.12301
pmid: 23521501
10
Reboursiere E, Chantepie S, Gac AC, Reman O. Rare but authentic Philadelphia-positive acute myeloblastic leukemia: two case reports and a literature review of characteristics, treatment and outcome. Hematol Oncol Stem Cell Ther 2015; 8(1): 28–33 https://doi.org/10.1016/j.hemonc.2014.09.002
pmid: 25300567
11
Tucker D, Hamilton MS, Kerr JP, Wickham C, Hunter H. Lytic bone disease as the presenting feature of Philadelphia-positive monosomy 7 myelodysplasia progressing to acute myeloid leukaemia. Gene 2012; 501(2): 219–221 https://doi.org/10.1016/j.gene.2012.04.024
pmid: 22537673
12
Cribe AS, Steenhof M, Marcher CW, Petersen H, Frederiksen H, Friis LS. Extramedullary disease in patients with acute myeloid leukemia assessed by 18F-FDG PET. Eur J Haematol 2013; 90(4): 273–278 https://doi.org/10.1111/ejh.12085
pmid: 23470093
13
Vanderhoek M, Juckett MB, Perlman SB, Nickles RJ, Jeraj R. Early assessment of treatment response in patients with AML using [(18)F]FLT PET imaging. Leuk Res 2011; 35(3): 310–316 https://doi.org/10.1016/j.leukres.2010.06.010
pmid: 20832860
