An Unusual Case of Philadelphia Chromosome–Positive Chronic Myelogenous Leukemia With Trisomy 19 Presenting With Megakaryoblastosis and Myelofibrosis

Abstract

Initial identification of chronic myelogenous leukemia is very important since targeted therapy leads to life-saving remission. Rarely, chronic myelogenous leukemia presents with an unusual picture, making the diagnosis challenging. We describe such a case of chronic myelogenous leukemia in blast crisis in a previously healthy 61-year-old woman. The patient presented with fever, myalgias, and night sweats and was first worked up for an infectious etiology. Because of persistent anemia, a bone marrow biopsy was performed that revealed fibrosis with increased megakaryoblasts. Even though initial cytogenetic studies could not be performed because of "dry tap" aspirate, persistent efforts for cytogenetic studies were made, including a "squeeze preparation" from the core biopsy, which revealed t(9;22)(q34;q11.2) and trisomy 19. The patient was treated with tyrosine kinase inhibitors, chemotherapy, and subsequently an allogeneic stem cell transplant. She is in persistent remission. This case illustrates a complex presentation of chronic myelogenous leukemia and provides an overview of morphologic cues and the importance of performing cytogenetic studies that led to the diagnosis.

Acute Myeloid Leukemia with Isolated Trisomy 19 Associated with Diffuse Myelofibrosis and Osteosclerosis

“…Chromosome 19 abnormalities may be present in any of these entities and may also occur as a secondary abnormality with additional recurrent abnormalities such as t(9;22), trisomy 21, t(1;22), as well as numeric abnormalities and deletions in MDS [ 25 ]. On the other hand, an isolated trisomy 19 is a marker of myeloid disorders most commonly associated with AML-M7 both in cases that are de novo and secondary to evolved MDS [ 8 ].…”

Hodgkin's lymphoma associated with myelofibrosis: A case report

“…However, small lymph nodes (1-2 cm in diameter) remained in the neck and supraclavicular after 4 courses of chemotherapy. Therefore, the patient was treated with 2 courses of BEACOPP (bleomycin, 15 mg, day 8; etoposide, 200 mg, days 1-3; doxorubicin, 80 mg, day 1; cyclophosphamide, 1,200 mg, day 1; vincristine, 4 mg, day 8; procarbazine, 700 mg, days 1 and 15; and prednisone, 80 mg, days 1-14) combined with local radiotherapy (2 Gy, days [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. Residual lesions were not observed on CT scans, and a BM biopsy demonstrated recovery of hematopoiesis and a disappearance of fibrosis.…”

“…Clinical manifestations of myelofibrosis include cytopenias, profound splenomegaly, bone pain, night sweats, weight loss, and fatigue (4). Secondary MF (SMF) is often observed in a number of hematological malignancies, including acute megakaryoblastic leukemia (5), chronic myeloid leukemia (6) and hairy cell leukemia (7); however, SMF is rare in lymphoid neoplasms. The present study reported a case of reversible MF associated with Hodgkin's lymphoma (HL), which was resolved following remission of lymphoma.…”