NUP98 Rearrangement in Acute Myelomonocytic Leukemia With t(11;19)(p15;p12): The First Case Report Worldwide

2017-02-17 18:22:14

Annals of Laboratory Medicine; Diagnostig Hematology; Ann Lab Med 2017;37:285-287;

Hyeon-Ho Lim, M.D., Gyu-Dae An, M.D., Kwang-Sook Woo, M.D., Kyeong-Hee Kim, M.D., Jeong-Man Kim, M.D., Sung-Hyun Kim, M.D., and Jin-Yeong Han, M.D.


AML is a group of heterogeneous diseases derived from various cytogenetic and molecular abnormalities that are significant for diagnosis, treatment, and prognosis in many cases. We report a rare case of AML harboring t(11;19)(p15;p12) that was detected with whole-genome sequencing (WGS). A 33-yr-old woman was admitted to a local hospital with abdominal pain and diarrhea for five days. After conservative treatment, the symptoms improved. However, definite leukocytosis persisted; therefore, the patient visited our hospital for further evaluation. The initial complete blood count showed an Hb level of 7.6 g/dL, white blood cell (WBC) count of 29.48×109 /L, and platelet count of 53×109 /L. On the peripheral blood smear, differential counts revealed 15% segmented neutrophils, 16% lymphocytes, 60% monocytes, 1% eosinophils, 1% atypical lymphocytes, 1% promyelocytes, 6% blasts, and 4 nucleated red blood cells (RBCs) per 100 WBCs. RBCs were macrocytic and hyperchromic with mild polychromasia and anisocytosis. The bone marrow (BM) aspirate smear showed increased myeloblasts and monoblasts (7.6% and 42.0% of all nucleated cells, respectively) (Fig. 1A).

Empire Genomic's NUP98 Break Apart
FISH Probe was used in this publication.

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