Blast Crisis of Ph-Positive Chronic Myeloid Leukemia with Isochromosome 17q: Report of 12 Cases and Review of the Literature

Hernandez-Boluda, JC; Cervantes, Francisco; Costa, Dolors; Carrió, Ana; Montserrat, Emilio

doi:10.3109/10428190009060321

Cited by 21 publications

(5 citation statements)

References 32 publications

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“…Generally, isochromosome formation is characterized by the loss of the entire short arm with subsequent duplication of the entire long arm, resulting in two homologous arms attached to a single centromere as mirror images [ 4 , 7 , 13 ]. There are two hypotheses to explain the formation of isochromosome, either by transverse instead of longitudinal division of the centromere or by chromatid exchange involving two homologous chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Isochromosome 17q in Chronic Lymphocytic Leukemia

Alhourani

Rinčić²,

Melo

et al. 2015

Leukemia Research and Treatment

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In chronic lymphocytic leukemia (CLL), presence of acquired cytogenetic abnormalities may help to estimate prognosis. However, deletion of TP53 gene, which is associated with an aggressive course of the disease and poor prognosis along with a lack of response to treatment, is one of the alterations which may escape cytogenetic diagnoses in CLL. Thus, other techniques have emerged such as interphase fluorescence in situ hybridization (iFISH). Deletion of TP53 may but must not go together with the formation of an isochromosome i(17q); surprisingly this subgroup of patients was not in the focus of CLL studies yet. This study was about if presence of i(17q) could be indicative for a new subgroup in CLL with more adverse prognosis. As a result, TP53 deletion was detected in 18 out of 150 (12%) here studied CLL cases. Six of those cases (~33%) had the TP53 deletion accompanied by an i(17q). Interestingly, the cases with i(17q) showed a tendency towards more associated chromosomal aberrations. These findings may be the bases for follow-up studies in CLL patients with TP53 deletion with and without i(17q); it may be suggested that the i(17q) presents an even more adverse prognostic marker than TP53 deletion alone.

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Section: Discussionmentioning

confidence: 99%

Isochromosome 17q in Chronic Lymphocytic Leukemia

Alhourani

Rinčić²,

Melo

et al. 2015

Leukemia Research and Treatment

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“…During the period of 2011 to 2017, we found 14 patients with i17q (either sole or with complex cytogenetic abnormalities) with a median survival of 10.4 months. Isochromosome 17q is often seen as a secondary evolution during blast crisis phase of CML and other myeloid neoplasms as reported in the literature and heralds an aggressive clinical course [3], [4] Isochromosome 17q is associated with a poor prognosis in patients with myeloid neoplasms. [5], [6] An improved survival trend was noted in our patients who underwent HSCT compared to those patients who were managed by traditional chemotherapy only.…”

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confidence: 90%

Clinical characteristics and treatment outcome of patients with isochromosome 17q (i17q) abnormality and myeloid neoplasms: A single center experience

Ganguly

Uvodich

Dias³

et al. 2018

Leukemia Research Reports

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“…In general, the secondary chromosomal changes, with the exception of the AML/MDS-related translocations and inversions, do not seem to confer any characteristic morphologic features, although i(17q) has been associated with marked basophilia and the presence of pseudo Pelger-Huët neutrophils [69, 83, 177, 184, 185, 186]. That the cytogenetic evolution generally does not determine the phenotypic differentiation during BC has also been shown by serial karyotypic investigations of a case of CML BC revealing cytogenetically distinct clones in phenotypically and immunogenetically identical lymphoblastic transformations [187].…”

Section: Secondary Aberrations In Relation To Morphologymentioning

confidence: 99%

Cytogenetic and Molecular Genetic Evolution of Chronic Myeloid Leukemia

2002

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Chronic myeloid leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL gene fusion on the derivative chromosome 22 called the Philadelphia (Ph) chromosome. In 2–10% of the cases, this chimeric gene is generated by variant rearrangements, involving 9q34, 22q11, and one or several other genomic regions. All chromosomes have been described as participating in these variants, but there is a marked breakpoint clustering to chromosome bands 1p36, 3p21, 5q13, 6p21, 9q22, 11q13, 12p13, 17p13, 17q21, 17q25, 19q13, 21q22, 22q12, and 22q13. Despite their genetically complex nature, available data indicate that variant rearrangements do not confer any specific phenotypic or prognostic impact as compared to CML with a standard Ph chromosome. In most instances, the t(9;22), or a variant thereof, is the sole chromosomal anomaly during the chronic phase (CP) of the disease, whereas additional genetic changes are demonstrable in 60–80% of cases in blast crisis (BC). The secondary chromosomal aberrations are clearly nonrandom, with the most common chromosomal abnormalities being +8 (34% of cases with additional changes), +Ph (30%), i(17q) (20%), +19 (13%), –Y (8% of males), +21 (7%), +17 (5%), and monosomy 7 (5%). We suggest that all these aberrations, occurring in >5% of CML with secondary changes, should be denoted major route abnormalities. Chromosome segments often involved in structural rearrangements include 1q, 3q21, 3q26, 7p, 9p, 11q23, 12p13, 13q11–14, 17p11, 17q10, 21q22, and 22q10. No clear-cut differences as regards type and prevalence of additional aberrations seem to exist between CML with standard t(9;22) and CML with variants, except for slightly lower frequencies of the most common changes in the latter group. The temporal order of the secondary changes varies, but the preferred pathway appears to start with i(17q), followed by +8 and +Ph, and then +19. Molecular genetic abnormalities preceding, or occurring during, BC include overexpression of the BCR/ABL transcript, upregulation of the EVI1 gene, increased telomerase activity, and mutations of the tumor suppressor genes RB1, TP53, and CDKN2A. The cytogenetic evolution patterns vary significantly in relation to treatment given during CP. For example, +8 is more common after busulfan than hydroxyurea therapy, and the secondary changes seen after interferon-alpha treatment or bone marrow transplantation are often unusual, seemingly random, and occasionally transient. Apart from the strong phenotypic impact of addition of acute myeloid leukemia/myelodysplasia-associated translocations and inversions, such as inv(3)(q21q26), t(3;21)(q26;q22), and t(15;17)(q22;q12–21), in CML BC, only a few significant differences between myeloid and lymphoid BC are discerned, with i(17q) and TP53 mutations being more common in myeloid BC and monosomy 7, hypodiploidy, and CDKN2A deletions being more frequent in lymphoid BC. The prognostic significance of the secondary genetic changes is not uniform, althoug...

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Blast Crisis of Ph-Positive Chronic Myeloid Leukemia with Isochromosome 17q: Report of 12 Cases and Review of the Literature

Cited by 21 publications

References 32 publications

Isochromosome 17q in Chronic Lymphocytic Leukemia

Isochromosome 17q in Chronic Lymphocytic Leukemia

Clinical characteristics and treatment outcome of patients with isochromosome 17q (i17q) abnormality and myeloid neoplasms: A single center experience

Cytogenetic and Molecular Genetic Evolution of Chronic Myeloid Leukemia

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