Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Mar;49(1):22-8.
doi: 10.5045/br.2014.49.1.22. Epub 2014 Mar 24.

Characteristics of hematologic malignancies with coexisting t(9;22) and inv(16) chromosomal abnormalities

Eunhee Han  1 , Hyeyoung Lee  1 , Myungshin Kim  1 , Yonggoo Kim  1 , Kyungja Han  1 , Sung-Eun Lee  2 , Hee-Je Kim  2 , Dong-Wook Kim  2
Affiliations

Characteristics of hematologic malignancies with coexisting t(9;22) and inv(16) chromosomal abnormalities

Eunhee Han et al. Blood Res. 2014 Mar.

Abstract

Background: The coexistence of t(9;22)(q34;q11.2) and inv(16)(p13q22) chromosomal abnormalities is extremely uncommon, and only a small number of such cases have been reported. Here, we characterized 7 cases of hematologic malignancy exhibiting t(9;22) and inv(16) coexistence.

Methods: We reviewed the cytogenetic data for hematologic malignancies treated at the Catholic Blood and Marrow Transplantation Center between January 2004 and June 2013. We identified 7 cases exhibiting t(9;22) and inv(16) coexistence. In addition, we analyzed mutations in the IKZF1, NPM1, FLT3, N-RAS, K-RAS, c-KIT, and TP53 genes.

Results: Four cases of chronic myelogenous leukemia (CML; 1 chronic phase, 2 accelerated phase, and 1 blast phase) and 3 cases of acute myeloid leukemia (AML; 1 de novo and 2 therapy-related) were identified. The percentages of circulating blasts and bone marrow eosinophils were higher in AML cases than in CML cases (53% vs. 5% and 30% vs. 5.5%, respectively). The proportions of each chromosomal abnormality were used along with follow-up karyotyping results to identify secondary changes. In BCR/ABL, a p210 fusion transcript was associated with CML, whereas a p190 fusion transcript was associated with AML. One patient with AML harbored 2 mutations: c-KIT D816V and TP53 E11Q. All patients except 1 with CML blast phase sustained clinical remission after treatment, which included an imatinib mesylate regimen.

Conclusion: This study shows that observations of bone marrow morphology, initial and follow-up cytogenetic studies, and karyotyping of BCR/ABL1 and CBFB/MYH11 provide valuable information for characterizing hematologic malignancies exhibiting t(9;22) and inv(16) coexistence.

Keywords: Acute myeloid leukemia; BCR/ABL1; CBFB/MYH11; Chronic myelogenous leukemia; inv(16); t(9;22).

PubMed Disclaimer

Conflict of interest statement

No potential s of interest relevant to this article were reported.

References

    1. Swerdlow SH, Campo E, Harris NL, et al., editors. WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon, France: IARC; 2008.
    1. Patel BB, Mohamed AN, Schiffer CA. "Acute myelogenous leukemia like" translocations in CML blast crisis: two new cases of inv(16)/t(16;16) and a review of the literature. Leuk Res. 2006;30:225–232. - PubMed
    1. Tirado CA, Valdez F, Klesse L, et al. Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3'CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review. Cancer Genet Cytogenet. 2010;200:54–59. - PubMed
    1. Roth CG, Contis L, Gupta S, Agha M, Safyan E. De novo acute myeloid leukemia with Philadelphia chromosome (BCR-ABL) and inversion 16 (CBFB-MYH11): report of two cases and review of the literature. Leuk Lymphoma. 2011;52:531–535. - PubMed
    1. Wu Y, Slovak ML, Snyder DS, Arber DA. Coexistence of inversion 16 and the Philadelphia chromosome in acute and chronic myeloid leukemias: report of six cases and review of literature. Am J Clin Pathol. 2006;125:260–266. - PubMed