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A novel case of extreme thrombocytosis in acute myeloid leukemia associated with isochromosome 17q and copy neutral loss of heterozygosity.

You E, Cho SY, Yang JJ, Lee HJ, Lee WI, Lee J, Cho KS, Cho EH, Park TS - Ann Lab Med (2015)

View Article: PubMed Central - PubMed

Affiliation: Department of Medicine, Graduate School, Kyung Hee University, Seoul, Korea. ; Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, Korea.

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Presented here is a case of AML with myelodysplasia-related changes (AML-MRC) with extreme thrombocytosis, 7q LOH, and i(17q)... The initial complete blood count (CBC) showed a Hb level of 8.9 g/dL, a platelet count of 1,746×10/L, and a white blood cell (WBC) count of 14.65×10/L with 43% blasts (Fig. 1A)... Focal fibrosis of the bone marrow was observed from the biopsy section... The results of BCR-ABL1, JAK2 V617F, MPL W515L/K, and CALR exon 9 mutation tests were all negative... The chromosome study showed a karyotype of 46,XY,i(17)(q10) in 18 out of 20 metaphase cells (Fig. 2A)... The patient was diagnosed as having AML-MRC... Marked thrombocytosis is rarely associated with AML, and thrombocytosis with a platelet count over 1.0×10/L is an extremely rare phenomenon, even for a patient with chromosome 3 abnormalities... Our patient had a platelet count of 1,746×10/L at diagnosis, but no abnormalities of chromosome 3 were found... To our knowledge, this is the first reported case of marked thromobocytosis with AML associated with i(17q) and not with chromosome 3... LOH 7q is common in AML and MDS and seems to play an important role in the phenotype and characteristics of these diseases... A recent study by Jerez et al. found a correlation between the presence of LOH 7q and diploid MDS/MPN... However, the finding of marked thromobocytosis and 7q LOH, seemed rather irrelevant and unrelated... A close follow-up of such unusual cases could provide further clinical information on AML-MRC with extreme thrombocytosis accompanied by i(17q) and 7q LOH, while additional studies are necessary to delineate and characterize the development of such unique cases.

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Related in: MedlinePlus

The findings of the peripheral blood (PB) smear and bone marrow (BM) aspiration. The PB smear shows leukemic blasts (horizontal arrow) (A). Dysplastic features were found on the PB smear such as marked anisopoikilocytosis in red blood cells (RBCs), pseudo-Pelger-Huet-like neutrophils (vertical arrow), and extreme thrombocytosis with giant and large platelets (B). The BM aspirate smear shows that hematopoietic components are barely visible owing to extreme thrombocytosis (C) and micromegakaryocytes display dyspoietic features of binucleation or non-lobulated shapes (D). Wright-Giemsa; ×200 (C), ×1,000 (A, B, D).
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Figure 1: The findings of the peripheral blood (PB) smear and bone marrow (BM) aspiration. The PB smear shows leukemic blasts (horizontal arrow) (A). Dysplastic features were found on the PB smear such as marked anisopoikilocytosis in red blood cells (RBCs), pseudo-Pelger-Huet-like neutrophils (vertical arrow), and extreme thrombocytosis with giant and large platelets (B). The BM aspirate smear shows that hematopoietic components are barely visible owing to extreme thrombocytosis (C) and micromegakaryocytes display dyspoietic features of binucleation or non-lobulated shapes (D). Wright-Giemsa; ×200 (C), ×1,000 (A, B, D).

Mentions: A 76-yr-old Korean male was referred for thrombocytosis. The initial complete blood count (CBC) showed a Hb level of 8.9 g/dL, a platelet count of 1,746×109/L, and a white blood cell (WBC) count of 14.65×109/L with 43% blasts (Fig. 1A). The dysplastic features observed on a peripheral blood smear were marked anisocytosis of red blood cells (RBCs), pseudo-Pelger-Huet-like neutrophils, and extreme thrombocytosis with giant and large platelets (Fig. 1B). Bone marrow aspiration smears displayed hardly visible hematopoietic components owing to extreme thrombocytosis and dyspoietic megakaryocytes (Fig. 1C). Micromegakaryocytes with the dyspoietic features of binucleation or non-lobulated shapes were observed (Fig. 1D). From visible fields located at the periphery of aspiration slides, 37.8% of leukemic blasts were seen. Focal fibrosis of the bone marrow was observed from the biopsy section. The results of BCR-ABL1, JAK2 V617F, MPL W515L/K, and CALR exon 9 mutation tests were all negative. Immunophenotyping revealed that the blasts were positive for CD34, CD13, HLA-DR (moderate), CD33, and CD38 (dim), which was consistent with AML. The chromosome study showed a karyotype of 46,XY,i(17)(q10) in 18 out of 20 metaphase cells (Fig. 2A). The patient was diagnosed as having AML-MRC.


A novel case of extreme thrombocytosis in acute myeloid leukemia associated with isochromosome 17q and copy neutral loss of heterozygosity.

You E, Cho SY, Yang JJ, Lee HJ, Lee WI, Lee J, Cho KS, Cho EH, Park TS - Ann Lab Med (2015)

The findings of the peripheral blood (PB) smear and bone marrow (BM) aspiration. The PB smear shows leukemic blasts (horizontal arrow) (A). Dysplastic features were found on the PB smear such as marked anisopoikilocytosis in red blood cells (RBCs), pseudo-Pelger-Huet-like neutrophils (vertical arrow), and extreme thrombocytosis with giant and large platelets (B). The BM aspirate smear shows that hematopoietic components are barely visible owing to extreme thrombocytosis (C) and micromegakaryocytes display dyspoietic features of binucleation or non-lobulated shapes (D). Wright-Giemsa; ×200 (C), ×1,000 (A, B, D).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4390708&req=5

Figure 1: The findings of the peripheral blood (PB) smear and bone marrow (BM) aspiration. The PB smear shows leukemic blasts (horizontal arrow) (A). Dysplastic features were found on the PB smear such as marked anisopoikilocytosis in red blood cells (RBCs), pseudo-Pelger-Huet-like neutrophils (vertical arrow), and extreme thrombocytosis with giant and large platelets (B). The BM aspirate smear shows that hematopoietic components are barely visible owing to extreme thrombocytosis (C) and micromegakaryocytes display dyspoietic features of binucleation or non-lobulated shapes (D). Wright-Giemsa; ×200 (C), ×1,000 (A, B, D).
Mentions: A 76-yr-old Korean male was referred for thrombocytosis. The initial complete blood count (CBC) showed a Hb level of 8.9 g/dL, a platelet count of 1,746×109/L, and a white blood cell (WBC) count of 14.65×109/L with 43% blasts (Fig. 1A). The dysplastic features observed on a peripheral blood smear were marked anisocytosis of red blood cells (RBCs), pseudo-Pelger-Huet-like neutrophils, and extreme thrombocytosis with giant and large platelets (Fig. 1B). Bone marrow aspiration smears displayed hardly visible hematopoietic components owing to extreme thrombocytosis and dyspoietic megakaryocytes (Fig. 1C). Micromegakaryocytes with the dyspoietic features of binucleation or non-lobulated shapes were observed (Fig. 1D). From visible fields located at the periphery of aspiration slides, 37.8% of leukemic blasts were seen. Focal fibrosis of the bone marrow was observed from the biopsy section. The results of BCR-ABL1, JAK2 V617F, MPL W515L/K, and CALR exon 9 mutation tests were all negative. Immunophenotyping revealed that the blasts were positive for CD34, CD13, HLA-DR (moderate), CD33, and CD38 (dim), which was consistent with AML. The chromosome study showed a karyotype of 46,XY,i(17)(q10) in 18 out of 20 metaphase cells (Fig. 2A). The patient was diagnosed as having AML-MRC.

View Article: PubMed Central - PubMed

Affiliation: Department of Medicine, Graduate School, Kyung Hee University, Seoul, Korea. ; Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, Korea.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Presented here is a case of AML with myelodysplasia-related changes (AML-MRC) with extreme thrombocytosis, 7q LOH, and i(17q)... The initial complete blood count (CBC) showed a Hb level of 8.9 g/dL, a platelet count of 1,746×10/L, and a white blood cell (WBC) count of 14.65×10/L with 43% blasts (Fig. 1A)... Focal fibrosis of the bone marrow was observed from the biopsy section... The results of BCR-ABL1, JAK2 V617F, MPL W515L/K, and CALR exon 9 mutation tests were all negative... The chromosome study showed a karyotype of 46,XY,i(17)(q10) in 18 out of 20 metaphase cells (Fig. 2A)... The patient was diagnosed as having AML-MRC... Marked thrombocytosis is rarely associated with AML, and thrombocytosis with a platelet count over 1.0×10/L is an extremely rare phenomenon, even for a patient with chromosome 3 abnormalities... Our patient had a platelet count of 1,746×10/L at diagnosis, but no abnormalities of chromosome 3 were found... To our knowledge, this is the first reported case of marked thromobocytosis with AML associated with i(17q) and not with chromosome 3... LOH 7q is common in AML and MDS and seems to play an important role in the phenotype and characteristics of these diseases... A recent study by Jerez et al. found a correlation between the presence of LOH 7q and diploid MDS/MPN... However, the finding of marked thromobocytosis and 7q LOH, seemed rather irrelevant and unrelated... A close follow-up of such unusual cases could provide further clinical information on AML-MRC with extreme thrombocytosis accompanied by i(17q) and 7q LOH, while additional studies are necessary to delineate and characterize the development of such unique cases.

No MeSH data available.


Related in: MedlinePlus