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Coexistence of p190 BCR/ABL Transcript and CALR 52-bp Deletion in Chronic Myeloid Leukemia Blast Crisis: A Case Report.

Seghatoleslami M, Ketabchi N, Ordo A, Asl JM, Golchin N, Saki N - Mediterr J Hematol Infect Dis (2016)

Bottom Line: RT-PCR assay detected the e1a2 BCR-ABL translocation resulting from rearrangement of the minor breakpoint cluster region (m-bcr) in BCR gene.Subsequent evaluation of the disease showed calreticulin (CALR) 52-bp deletion as well as the absence of JAK2 (V617F) heterozygous mutation in granulocyte population of peripheral blood using allele-specific PCR and bi-directional DNA sequencing.To our knowledge, this is the first case of a patient initially diagnosed as p190 BCR-ABL transcript positive CML in blast crisis characterized by a 52-bp deletion in CALR gene.

View Article: PubMed Central - PubMed

Affiliation: Health Research Institute, Research Center of Thalassemia and Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

ABSTRACT
We introduce a 78-year-old woman presented with thrombocytosis and high blast count who had a history of splenectomy. Her cytogenetic analysis revealed aberrant chromosomal rearrangements in different clonal populations harboring 46XX karyotype with t(9;22) (q34;q11). RT-PCR assay detected the e1a2 BCR-ABL translocation resulting from rearrangement of the minor breakpoint cluster region (m-bcr) in BCR gene. Subsequent evaluation of the disease showed calreticulin (CALR) 52-bp deletion as well as the absence of JAK2 (V617F) heterozygous mutation in granulocyte population of peripheral blood using allele-specific PCR and bi-directional DNA sequencing. To our knowledge, this is the first case of a patient initially diagnosed as p190 BCR-ABL transcript positive CML in blast crisis characterized by a 52-bp deletion in CALR gene.

No MeSH data available.


Related in: MedlinePlus

A, B: Increased blasts and platelets in BM examination of initial diagnosis. C, D: Chromosomal aberrations revealed in cytogenetic analysis. E: FISH indicated the rearrangement between ABL and BCR genes. F: Bi-directional sequencing for confirmation of CALR 52-bp mutation.
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f1-mjhid-8-1-e2016002: A, B: Increased blasts and platelets in BM examination of initial diagnosis. C, D: Chromosomal aberrations revealed in cytogenetic analysis. E: FISH indicated the rearrangement between ABL and BCR genes. F: Bi-directional sequencing for confirmation of CALR 52-bp mutation.

Mentions: A 78-year-old woman was admitted to our department in May 2015 with pallor, weakness and a remote history of splenectomy. Her peripheral blood (PB) revealed anemia with a hemoglobin concentration of 8.6 g/dL, thrombocytosis (789,000×103/μL), white blood cell (WBC) count of 68200/μL with 16% neutrophils, 1% eosinophils, 1% monocytes, 48% lymphocytes, 16% atypical lymphocytes and 18% blasts. Morphologic review of the PB smear revealed basket cells and nucleated red blood cells. BM aspirate smears showed hypercellular marrow with increased blasts (Figure 1A) and platelets (Figure 1B). Blasts showed a fine chromatin pattern, round nuclei, and scanty cytoplasm.


Coexistence of p190 BCR/ABL Transcript and CALR 52-bp Deletion in Chronic Myeloid Leukemia Blast Crisis: A Case Report.

Seghatoleslami M, Ketabchi N, Ordo A, Asl JM, Golchin N, Saki N - Mediterr J Hematol Infect Dis (2016)

A, B: Increased blasts and platelets in BM examination of initial diagnosis. C, D: Chromosomal aberrations revealed in cytogenetic analysis. E: FISH indicated the rearrangement between ABL and BCR genes. F: Bi-directional sequencing for confirmation of CALR 52-bp mutation.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4696471&req=5

f1-mjhid-8-1-e2016002: A, B: Increased blasts and platelets in BM examination of initial diagnosis. C, D: Chromosomal aberrations revealed in cytogenetic analysis. E: FISH indicated the rearrangement between ABL and BCR genes. F: Bi-directional sequencing for confirmation of CALR 52-bp mutation.
Mentions: A 78-year-old woman was admitted to our department in May 2015 with pallor, weakness and a remote history of splenectomy. Her peripheral blood (PB) revealed anemia with a hemoglobin concentration of 8.6 g/dL, thrombocytosis (789,000×103/μL), white blood cell (WBC) count of 68200/μL with 16% neutrophils, 1% eosinophils, 1% monocytes, 48% lymphocytes, 16% atypical lymphocytes and 18% blasts. Morphologic review of the PB smear revealed basket cells and nucleated red blood cells. BM aspirate smears showed hypercellular marrow with increased blasts (Figure 1A) and platelets (Figure 1B). Blasts showed a fine chromatin pattern, round nuclei, and scanty cytoplasm.

Bottom Line: RT-PCR assay detected the e1a2 BCR-ABL translocation resulting from rearrangement of the minor breakpoint cluster region (m-bcr) in BCR gene.Subsequent evaluation of the disease showed calreticulin (CALR) 52-bp deletion as well as the absence of JAK2 (V617F) heterozygous mutation in granulocyte population of peripheral blood using allele-specific PCR and bi-directional DNA sequencing.To our knowledge, this is the first case of a patient initially diagnosed as p190 BCR-ABL transcript positive CML in blast crisis characterized by a 52-bp deletion in CALR gene.

View Article: PubMed Central - PubMed

Affiliation: Health Research Institute, Research Center of Thalassemia and Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

ABSTRACT
We introduce a 78-year-old woman presented with thrombocytosis and high blast count who had a history of splenectomy. Her cytogenetic analysis revealed aberrant chromosomal rearrangements in different clonal populations harboring 46XX karyotype with t(9;22) (q34;q11). RT-PCR assay detected the e1a2 BCR-ABL translocation resulting from rearrangement of the minor breakpoint cluster region (m-bcr) in BCR gene. Subsequent evaluation of the disease showed calreticulin (CALR) 52-bp deletion as well as the absence of JAK2 (V617F) heterozygous mutation in granulocyte population of peripheral blood using allele-specific PCR and bi-directional DNA sequencing. To our knowledge, this is the first case of a patient initially diagnosed as p190 BCR-ABL transcript positive CML in blast crisis characterized by a 52-bp deletion in CALR gene.

No MeSH data available.


Related in: MedlinePlus