“Acute myelogenous leukemia like” translocations in CML blast crisis: Two new cases of inv(16)/t(16;16) and a review of the literature

Patel, Bhaumik B.; Mohamed, Anwar N.; Schiffer, Charles A.

doi:10.1016/j.leukres.2005.06.008

Cited by 13 publications

(9 citation statements)

References 71 publications

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“…Therefore, a clear distinction of de novo AML and CML blast crisis remains challenging even in these inv(16)+ cases. The distribution of BCR-ABL p190 and p210 in inv(16)-CBF-AML was notably different from CML blast crisis: 53 % (9 cases) carried the p190 transcript in AML, whereas p190 was only found in one of 19 published cases of CML-AP/BC with inv (16) [18,19,[39][40][41][42][43][44][45][46][47][48]. Therefore, the detection of the minor BCR-ABL transcript in AML with inv(16) might be helpful in identifying de novo BCR-ABL+ AML.…”

Section: Characteristic Features Of Bcr-abl+ Amlmentioning

confidence: 99%

BCR-ABL-positive acute myeloid leukemia: a new entity? Analysis of clinical and molecular features

et al. 2016

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BCR-ABL-positive acute myeloid leukemia (AML) is a rare subtype of AML that is now included as a provisional entity in the 2016 revised WHO classification of myeloid malignancies. Since a clear distinction between de novo BCR-ABL+ AML and chronic myeloid leukemia (CML) blast crisis is challenging in many cases, the existence of de novo BCR-ABL+ AML has been a matter of debate for a long time. However, there is increasing evidence suggesting that BCR-ABL+ AML is in fact a distinct subgroup of AML. In this study, we analyzed all published cases since 1975 as well as cases from our institution in order to present common clinical and molecular features of this rare disease. Our analysis shows that BCR-ABL predominantly occurs in AML-NOS, CBF leukemia, and AML with myelodysplasia-related changes. The most common BCR-ABL transcripts (p190 and p210) are nearly equally distributed. Based on the analysis of published data, we provide a clinical algorithm for the initial differential diagnosis of BCR-ABL+ AML. The prognosis of BCR-ABL+ AML seems to depend on the cytogenetic and/or molecular background rather than on BCR-ABL itself. A therapy with tyrosine kinase inhibitors (TKIs) such as imatinib, dasatinib, or nilotinib is reasonable, but-due to a lack of systematic clinical data-their use cannot be routinely recommended in first-line therapy. Beyond first-line treatment of AML, the use of TKI remains an individual decision, both in combination with intensive chemotherapy and/or as a bridge to allogeneic stem cell transplantation. In each single case, potential benefits have to be weighed against potential risks.

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Section: Characteristic Features Of Bcr-abl+ Amlmentioning

confidence: 99%

BCR-ABL-positive acute myeloid leukemia: a new entity? Analysis of clinical and molecular features

et al. 2016

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“…Some authors have shown that AML M4 with +22 as the only aberration, usually has an undetected inv(16) . Other abnormalities are similar in inv(16) and t(8;21) including complex cytogenetic abnormalities (in 15%) , +8 (6–8%) and ‐7/7q‐ (5%) .There are few patients reported with CML who had 16q22 (t(16;16)(p13;q22) and inv(16)(p13;q22) at the time of blast crisis . These patients had extramedullary disease and poor outcome.…”

Section: Molecular Pathogenesismentioning

confidence: 99%

Core‐binding factor acute myeloid leukemia: Heterogeneity, monitoring, and therapy

et al. 2014

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Core binding factor acute myelogenous leukemia (CBF AML) constitutes 15% of adult AML and carries an overall good prognosis. CBF AML encodes two recurrent cytogentic abnormalities referred to as t(8;21) and inv (16). The two CBF AML entities are usually grouped together but there is a considerable clinical, pathologic and molecular heterogeneity within this group of diseases. Recent and ongoing studies are addressing the molecular heterogeneity, minimal residual disease and targeted therapies to improve the outcome of CBF AML. In this article, we present a comprehensive review about CBF AML with emphasis on molecular heterogeneity and new therapeutic options.

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“…AML with inv(16) has been defined as a distinctive morphologic subtype and is designated M4Eo by the French-American-British Cooperative Group. From a molecular standpoint, the inversion of chromosome 16 creates the pathologic fusion gene CBFB/MYH11 , which reportedly alters transcriptional regulation [2]. The BCR/ABL1 rearrangement, created by t(9;22)(q34;q11.2), is characteristic of chronic myelogenous leukemia (CML) but also occurs in precursor lymphoid neoplasm and AML [3].…”

Section: Introductionmentioning

confidence: 99%

“…The BCR/ABL1 rearrangement, created by t(9;22)(q34;q11.2), is characteristic of chronic myelogenous leukemia (CML) but also occurs in precursor lymphoid neoplasm and AML [3]. Coexistence of the t(9;22) and inv(16) chromosomal aberrations is a rare occurrence that has been described in CML (mainly the myeloid blast phase [CML-BP]), de novo AML, and a few cases of therapy-related AML (t-AML) [2, 3, 4, 5, 6]. Most of the de novo forms of AML with the t(9;22) and inv(16) chromosomal abnormalities have a favorable prognosis comparable to that of AML with inv(16) alone [6].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2014

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BackgroundThe 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.MethodsWe 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.ResultsFour 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.ConclusionThis 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.

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“Acute myelogenous leukemia like” translocations in CML blast crisis: Two new cases of inv(16)/t(16;16) and a review of the literature

Cited by 13 publications

References 71 publications

BCR-ABL-positive acute myeloid leukemia: a new entity? Analysis of clinical and molecular features

BCR-ABL-positive acute myeloid leukemia: a new entity? Analysis of clinical and molecular features

Core‐binding factor acute myeloid leukemia: Heterogeneity, monitoring, and therapy

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

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