Comparison of chromosome banding analysis, interphase- and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: a study on 350 cases

Schoch, Claudia; Schnittger, Susanne; Bursch, Sabina; Gerstner, Daniela; Hochhaus, Andreas; Berger, Ute; Hehlmann, Rüdiger; Hiddemann, Wolfgang; Haferlach, Torsten

doi:10.1038/sj.leu.2402329

Cited by 272 publications

(185 citation statements)

References 26 publications

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“…The diagnosis of typical CML is simple and consists of documenting, in the setting of persistent unexplained leukocytosis (or occasionally thrombocytosis), the presence of the Ph chromosome abnormality, the t(9;22)(q34;q11), by routine cytogenetics, or the Phrelated molecular BCR-ABL abnormalities by fluorescent in situ hybridization (FISH) or by molecular studies [12][13][14].…”

Section: Diagnosismentioning

confidence: 99%

Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management

2014

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Disease overview: Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm with an incidence of 1–2 cases per 100,000 adults, and accounts for ∼15% of newly diagnosed cases of leukemia in adults. Diagnosis: CML is characterized by a balanced genetic translocation, t(9;22)(q34;q11.2), involving a fusion of the Abelson oncogene (ABL) from chromosome 9q34 with the breakpoint cluster region (BCR) gene on chromosome 22q11.2. This rearrangement is known as the Philadelphia chromosome. The molecular consequence of this translocation is the generation of a BCR‐ABL fusion oncogene, which in turn translates into a Bcr‐Abl oncoprotein. Frontline therapy: Three tyrosine kinase inhibitors (TKIs), imatinib, nilotinib, and dasatinib have been approved by the US Food and Drug Administration for the first‐line treatment of patients with newly diagnosed CML in chronic phase (CML‐CP). Clinical trials with second generation TKIs reported significantly deeper and faster responses; their impact on long‐term survival remains to be determined. Salvage therapy: For patients who fail frontline therapy, second‐line options include second and third generation TKIs. Although second and third generation TKIs are potent and specific BCR‐ABL TKIs, they exhibit unique pharmacological profiles and response patterns relative to different patient characteristics, such as patients comorbidities, disease stage, and BCR‐ABL mutational status. Patients who develop the T315I “gatekeeper” mutation display resistance to all currently available TKIs except ponatinib. Allogeneic transplantation remains an important therapeutic option for CML‐CP who have failed at least 2 TKIs, and for all patients in advanced phase disease. Am. J. Hematol. 89:547–556, 2014. © 2014 Wiley Periodicals, Inc.

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Section: Diagnosismentioning

confidence: 99%

Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management

2014

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“…17 The chromosomes were interpreted according to the International System for Human Cytogenetic Nomenclature (ISCN, Basel, Switzerland, 2009 …”

Section: Cytogenetic Analysismentioning

confidence: 99%

Early allo-SCT for AML with a complex aberrant karyotype—results from a prospective pilot study

Schmid

Schleuning

Tischer

et al. 2011

Bone Marrow Transplant

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“…Cytogenetic response criteria have a central role in the evaluation of the response to therapy, 8,119 but sensitivity is limited in most cases to a maximum of 25 metaphases. The combination with interphase FISH allows evaluation of 100-500 cells, but molecular techniques offer the most sensitive quantification of the residual BCR-ABL load.…”

Section: CMLmentioning

confidence: 99%

Minimal residual disease diagnostics in myeloid malignancies in the post transplant period

Bacher

Zander

Haferlach

et al. 2008

Bone Marrow Transplant

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Allogeneic SCT is important in myelodysplastic syndrome, the BCR-ABL-negative chronic myeloproliferative diseases (CMPDs) and in poor-risk AML. Techniques to monitor the minimal residual disease, for example, by PCR or immunophenotyping gain increasing importance in the post transplantation period as basis for improved and earlier therapeutic interventions in impending relapse. Recent markers such as the NPM1 mutations in AML or the JAK2V617F mutation in the CMPD can be exactly quantified by real-time PCR and were evaluated for their prognostic value in the post transplantation phase and for their utility to plan adoptive immunotherapy in case of molecular relapse. With respect to chimerism, new and very sensitive methods were introduced, for example, quantitative assessment of genetic polymorphisms by realtime PCR, but also methods here are still highly individualized. Only in CML, where SCT focuses now on poor-risk cases or cases of tyrosine kinase inhibitor failure, follow-up schedules are standardized. Standardization of the different diagnostic techniques and of the intervals in the post transplantation period is urgently needed also in other myeloid malignancies and should be focus of future studies.

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Comparison of chromosome banding analysis, interphase- and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: a study on 350 cases

Cited by 272 publications

References 26 publications

Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management

Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management

Early allo-SCT for AML with a complex aberrant karyotype—results from a prospective pilot study

Minimal residual disease diagnostics in myeloid malignancies in the post transplant period

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