Philadelphia chromosome-positive acute myeloid leukemia with masses and osteolytic lesions: finding of 18F-FDG PET/CT

Abstract

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.

Keywords

Philadelphia chromosome / acute myeloid leukemia / mass / osteolysis / positron emission tomography

References

[1] 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

[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

[4] Berger R. Differences between blastic chronic myeloid leukemia and Ph-positive acute leukemia. Leuk Lymphoma 1993; 11(Suppl 1): 235–237

[5] 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

[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

[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

[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

[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

[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

[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

[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

[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

Compliance with ethics guidelines

Zhan Su, Fengyu Wu, Weiyu Hu, Xiaodan Liu, Shaoling Wu, Xianqi Feng, Zhongguang Cui, Jie Yang, Zhenguang Wang, Hongzai Guan, Hongguo Zhao, Wei Wang, Chunting Zhao, and Jun Peng declare that they have no conflict of interest. Ethical board approval is not applicable in this case report.

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