Myeloproliferative neoplasms (MPNs) are traditionally separated into BCR-ABL-positive chronic myeloid leukemia (CML), and BCR-ABL-negative MPNs including primary myelofibrosis (PMF), essential thrombocythemia (ET), and so forth. One of the diagnostic requirements for PMF and ET is the absence of the Philadelphia chromosome, while its presence is almost universally indicative of CML. However, a diagnostic dilemma arises when Philadelphia chromosome-positive MPNs lack the majority of the typical features seen in CML. Some of these classic CML features include basophilIa, marked leukocytosis, neutrophils left-shift with myelocytes bulge, and “dwarf” megakaryocytes. Presented here is a case of a 32-year-old pregnant patient who did not have typical morphologic findings for CML, and yet the Philadelphia chromosome was positive. The patient demonstrated some pathologic features that are commonly presented in PMF that included bone marrow reticulin fibrosis, leukoerythroblastosis, splenomegaly, and increased serum lactate dehydrogenase. 1. Introduction Primary myelofibrosis (PMF) is a distinct, well-defined myeloproliferative neoplasm (MPN) characterized by megakaryocytic hyperplasia and subsequent fibrosis in the bone marrow, as well as leukoerythroblastosis and organomegaly. The presence of the , also known as the Philadelphia chromosome translocation, is used to demarcate chronic myelogenous leukemia (CML) from other MPNs including PMF. We describe an unusual case of a 32-year-old pregnant patient who presented with thrombocytosis and was found to have Philadelphia chromosome. The overall clinical presentation in this patient including bone marrow features were more commonly seen in a PMF, although other MPNs such as essential thrombocythemia (ET) were also considered. 2. Case Presentation The patient was a 32-year-old gravid 2 para 1 patient at 8 weeks gestation who presented to her obstetrician for diabetes management. She had a history of thrombocytosis in 2010 and was prescribed Plavix by her physician at an outside hospital. She denied any history of thrombosis but did complain of bleeding when she brushed her teeth. The physical examination was significant for hepatosplenomegaly which was later confirmed with abdominal imaging (Figure 1). Initial complete blood count (CBC) revealed a platelet count of 1,291 × 109/L (reference range 166–358 × 109/L), hemoglobin of 10.7？g/dL (reference range 11.6–15？g/dL), hematocrit 33.4% (reference range 35.7–45.2%), and a white blood cell (WBC) count of 15.7 × 109/L (reference range 4.3–11.1 × 109/L) with no
References
[1]
E. Jabbour and H. Kantarjian, “Chronic myeloid leukemia: 2012 update on diagnosis, monitoring, and management,” American Journal of Hematology, vol. 87, no. 11, pp. 1037–1045, 2012.
[2]
C. V. Cotta and C. E. Bueso-Ramos, “New insights into the pathobiology and treatment of chronic myelogenous leukemia,” Annals of Diagnostic Pathology, vol. 11, no. 1, pp. 68–78, 2007.
[3]
P. Mishra, M. Mahapatra, R. Kumar et al., “Philadelphia-chromosome positive thrombocythemia in a child,” European Journal of Haematology, vol. 75, no. 3, pp. 262–263, 2005.
[4]
L. Rice and U. Popat, “Every case of essential thrombocythemia should be tested for the Philadelphia chromosome,” American Journal of Hematology, vol. 78, no. 1, pp. 71–73, 2005.
[5]
S. Tulpule, S. Bewley, S. E. Robinson, D. Radia, C. Nelson-Piercy, and C. N. Harrison, “The management and outcome of four pregnancies in women with idiopathic myelofibrosis,” British Journal of Haematology, vol. 142, no. 3, pp. 480–482, 2008.
[6]
C. N. Harrison and S. E. Robinson, “Myeloproliferative disorders in pregnancy,” Hematology/Oncology Clinics of North America, vol. 25, no. 2, pp. 268–269, 2011.
[7]
F. Chen, C. Zhang, W. Wang et al., “A case of Philadelphia-chromosome positive chronic idiopathic myelofibrosis,” Leukemia Research, vol. 32, no. 4, pp. 665–667, 2008.
[8]
S. Bose, M. Deininger, J. Gora-Tybor, J. M. Goldman, and J. V. Melo, “The presence of typical and atypical BCR-ABL fusion genes in leukocytes of normal individuals: biologic significance and implications for the assessment of minimal residual disease,” Blood, vol. 92, no. 9, pp. 3362–3367, 1998.
[9]
M. Bornh？user, B. Mohr, U. Oelschlaegel et al., “Concurrent JAK2(V617F) mutation and BCR-ABL translocation within committed myeloid progenitors in myelofibrosis,” Leukemia, vol. 21, no. 8, pp. 1824–1826, 2007.
[10]
L. Jallades, S. Hayette, I. Tigaud et al., “Emergence of therapy-unrelated CML on a background of BCR-ABL-negative JAK2V617F-positive chronic idiopathic myelofibrosis,” Leukemia Research, vol. 32, no. 10, pp. 1608–1610, 2008.
[11]
S. Laibe, Z. Tadrist, C. Arnoulet, D. Sainty, and M. J. Mozziconacci, “A myeloproliferative disorder may hide another one,” Leukemia Research, vol. 33, no. 8, pp. 1133–1136, 2009.
[12]
V. Gupta, L. Foltz, S. Sirhan, L. Busque, and A. R. Turner, “Emerging therapeutic options for myelofibrosis: a Canadian perspective,” American Journal of Blood Research, vol. 2, no. 3, pp. 170–186, 2012.
[13]
A. V. Jones, S. Kreil, K. Zoi et al., “Widespread occurrence of the JAKsub>2 V617F mutation in chronic myeloproliferative disorders,” Blood, vol. 106, no. 6, pp. 2162–2168, 2005.
[14]
P. H. Y. Lily and G. M. Keating, “Ruxolitinib,” Drugs, vol. 72, no. 16, pp. 2117–2127, 2012.
[15]
T. Barbui and G. Finazzi, “Special issues in myeloproliferative neoplasms,” Current Hematologic Malignancy Reports, vol. 6, no. 1, pp. 28–35, 2011.
