Cytogenetic polyclonality in hematologic malignancies

Johansson, Bertil; Billström, Rolf; Broberg, Karin; Fioretos, Thoas; Nilsson, Per‐Gunnar; Ahlgren, Tomas; Malm, Claes; Samuelsson, Bengt; Mitelman, Felix

doi:10.1002/(sici)1098-2264(199903)24:3<222::aid-gcc7>3.0.co;2-a

Cited by 27 publications

(3 citation statements)

References 29 publications

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“…As seen in Tables 2 and 3, the frequencies of T21s and ⁄ or T21all varied significantly among the AML, MDS, MPN, and MDS ⁄ MPN cases, among the AML and MPN subtypes, and in relation to the age of the AML, MDS, and MPN patients, whereas there were no 1 The karyotypes of cases 1 and 7 have previously been reported (30,31). 2 Whole chromosome gains ⁄ losses not listed.…”

Section: Significant Frequency Differences Of Trisomy 21 In Myeloid Mmentioning

confidence: 88%

Myeloid malignancies with acquired trisomy 21 as the sole cytogenetic change are clinically highly variable and display a heterogeneous pattern of copy number alterations and mutations*

Larsson

Lilljebjörn

Lassen

et al. 2011

European J of Haematology

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Section: Significant Frequency Differences Of Trisomy 21 In Myeloid Mmentioning

confidence: 88%

Myeloid malignancies with acquired trisomy 21 as the sole cytogenetic change are clinically highly variable and display a heterogeneous pattern of copy number alterations and mutations*

Larsson

Lilljebjörn

Lassen

et al. 2011

European J of Haematology

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“…The frequencies of cytogenetically independent clones found in an individual case are 4.3–6.5% in MDS and 1.1–3.7% in AML [ 1 , 11 ]. In most reported cases with cytogenetically unrelated clones in hematological malignancy, two clones were detected in one sample simultaneously by G-band analysis either in the initial disease [ 1 – 3 ] or relapsed disease [ 3 ] or in secondary MDS or AML [ 4 ]. Raimondi et al reported the appearance of an unrelated clone as relapsed leukemia 6–35 months after remission of the initial disease [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

Cytogenetically Unrelated Clones in Acute Myeloid Leukemia Showing Different Responses to Chemotherapy

Kasahara

Onozawa

Miyashita

et al. 2016

Case Reports in Hematology

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We report a case of acute myeloid leukemia (AML) with two cytogenetically unrelated clones. The patient was a 45-year-old male who was diagnosed with acute monoblastic leukemia (AMoL). Initial G-band analysis showed 51,XY,+6,+8,inv(9)(p12q13)c,+11,+13,+19[12]/52,idem,+Y[8], but G-band analysis after induction therapy showed 45,XY,-7,inv(9)(p12q13)c[19]/46,XY,inv(9)(p12q13)c[1]. Retrospective FISH analysis revealed a cryptic monosomy 7 clone in the initial AML sample. The clone with multiple trisomies was eliminated after induction therapy and never recurred, but a clone with monosomy 7 was still detected in myelodysplastic marrow with a normal blast percentage. Both clones were successfully eliminated after related peripheral blood stem cell transplantation, but the patient died of relapsed AML with monosomy 7. We concluded that one clone was de novo AMoL with chromosome 6, 8, 11, 13, and 19 trisomy and that the other was acute myeloid leukemia with myelodysplasia-related changes(AML-MRC) with chromosome 7 monosomy showing different responses to chemotherapy. Simultaneous onset of cytogenetically unrelated hematological malignancies that each have a different disease status is a rare phenomenon but is important to diagnose for a correct understanding of the disease status and for establishing an appropriate treatment strategy.

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“…Usually, this calculation is based on the method of Heim and Mitelman, 5 which was also used by developing the NCCSS. 4 The main problem of this approach is the fact that the number of abnormalities is calculated based on the most promi- 13 where four of the five patients with UC showed a combination of del(5q) and + 8.…”

Section: Prognostic Classification Of Unrelated Clonesmentioning

confidence: 99%

Clonal architecture in patients with myelodysplastic syndromes and double or minor complex abnormalities: Detailed analysis of clonal composition, involved abnormalities, and prognostic significance

Schanz

Solé

Mallo

et al. 2018

Genes Chromosomes & Cancer

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The study analyzes the clonal architecture and the abnormalities involved in a series of 191 patients with myelodysplastic syndromes (MDS) and 2‐3 clonal abnormalities. All patients were extracted from an international database. The patients were classified into six clonal subtypes (2A‐3C) based on the number of abnormalities and the presentation of unrelated clones (UC) and/or a clonal evolution. UC were detected in 23/191 patients (12%). The composition of UC showed great variability. The only recurrent combination of abnormalities was del(5q) and + 8 in 8 of 23 patients (35%). In patients with clonal evolution, the clone size of the primary and secondary clone varied: Patients with −7 and + 8 in the primary clone showed a larger primary and a smaller secondary clone (−7: median 74% vs 10%; +8 73% vs 18%) while patients with del(5q) in the primary clone showed a smaller primary and a larger secondary clone (33% vs 61%). Univariate and multivariate analyses showed no significant differences regarding overall or AML‐free survival between the clonal subtypes. Only the subtype 3C (3 abnormalities and clonal evolution) was an independent risk factor for developing AML (Hazard Ratio 5.5 as compared to subtype 2A, P < .05). Finally, our study confirms that the number of abnormalities clearly defines a significant risk factor for overall‐ as well as AML‐free survival. Importantly, in patients with more than one clone, the calculation of the number of abnormalities in the entire sample instead of the number of abnormalities per clone allows a higher prognostic accuracy.

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Cytogenetic polyclonality in hematologic malignancies

Cited by 27 publications

References 29 publications

Myeloid malignancies with acquired trisomy 21 as the sole cytogenetic change are clinically highly variable and display a heterogeneous pattern of copy number alterations and mutations*

Myeloid malignancies with acquired trisomy 21 as the sole cytogenetic change are clinically highly variable and display a heterogeneous pattern of copy number alterations and mutations*

Cytogenetically Unrelated Clones in Acute Myeloid Leukemia Showing Different Responses to Chemotherapy

Clonal architecture in patients with myelodysplastic syndromes and double or minor complex abnormalities: Detailed analysis of clonal composition, involved abnormalities, and prognostic significance

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