Case Report Case report of isochromosome 17q in acute myeloid leukemia with myelodysplasia-related changes after treatment with a hypomethylating agent

Sousa, Jorge Rodrigues de; Germano, Ricardo; Castro, Catarina; Magalhães, Sílvia Maria Meira; Pinheiro, Ronald Feitosa

doi:10.4238/2012.august.6.8

Cited by 3 publications

(4 citation statements)

References 14 publications

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“…It is considered as a marker of unfavourable prognosis [5] when it has been reported during AML transformation of typical or atypical CML, or MDS/ myeloproliferative neoplasm (MPN) [6,7]. The reported cases are related to the same features: adult patient, mixed chronic myeloproliferative-myelodysplastic features, severe hyposegmentation of neutrophil nuclei, high risk for progression to AML (64 % transformed) and median survival of 2.5 years [8].…”

Section: Dear Editormentioning

confidence: 81%

“…Since 2007, i(17)(q10) was reported also to patients with AML progression secondary to myelodysplastic/ myeloproliferative syndrome [2,5]. All patients had poor prognosis and short survival.…”

Section: Dear Editormentioning

confidence: 93%

“…Mihara et al have described a patient with AML and an isolated i(17)(q10) secondary to MPN/MDS while treated with anthracyclines [6]. Recently, it was reported a case of i(17)(q10) in AML with myelodysplasia-related changes after treatment with a hypomethylating agent [5]. Herein, we report the first case with i(17)(q10) with basophilia that occurred within 15 months of treatment with JAK2 inhibitor and after an initial response.…”

Section: Dear Editormentioning

confidence: 99%

“…Isochromosome 17q10 can occur as either a primary or secondary cytogenetic abnormality and is usually a part of a complex karyotype [2,5]. It is considered as a marker of unfavourable prognosis [5] when it has been reported during AML transformation of typical or atypical CML, or MDS/ myeloproliferative neoplasm (MPN) [6,7].…”

Section: Dear Editormentioning

confidence: 99%

See 3 more Smart Citations

Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor

et al. 2015

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Section: Dear Editormentioning

confidence: 81%

Section: Dear Editormentioning

confidence: 93%

Section: Dear Editormentioning

confidence: 99%

Section: Dear Editormentioning

confidence: 99%

See 2 more Smart Citations

Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor

et al. 2015

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The ubiquitin-proteasome system and chromosome 17 in cerebellar granule cells and medulloblastoma subgroups

Vriend

Marzban

2016

Cell. Mol. Life Sci.

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Chromosome 17 abnormalities are often observed in medulloblastomas (MBs), particularly those classified in the consensus Groups 3 and 4. Herein we review MB signature genes associated with chromosome 17 and the relationship of these signature genes to the ubiquitin-proteasome system. While clinical investigators have not focused on the ubiquitin-proteasome system in relation to MB, a substantial amount of data on the topic has been hidden in the form of supplemental datasets of gene expression. A supplemental dataset associated with the Thompson classification of MBs shows that a subgroup of MB with 17p deletions is characterized by reduced expression of genes for several core particle subunits of the beta ring of the proteasome (β1, β4, β5, β7). One of these genes (PSMB6, the gene for the β1 subunit) is located on chromosome 17, near the telomeric end of 17p. By comparison, in the WNT group of MBs only one core proteasome subunit, β6, associated with loss of a gene (PSMB1) on chromosome 6, was down-regulated in this dataset. The MB subgroups with the worst prognosis have a significant association with chromosome 17 abnormalities and irregularities of APC/C cyclosome genes. We conclude that the expression of proteasome subunit genes and genes for ubiquitin ligases can contribute to prognostic classification of MBs. The therapeutic value of targeting proteasome subunits and ubiquitin ligases in the various subgroups of MB remains to be determined separately for each classification of MB.

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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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Case Report Case report of isochromosome 17q in acute myeloid leukemia with myelodysplasia-related changes after treatment with a hypomethylating agent

Cited by 3 publications

References 14 publications

Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor

Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor

The ubiquitin-proteasome system and chromosome 17 in cerebellar granule cells and medulloblastoma subgroups

Isochromosome 17q in Chronic Lymphocytic Leukemia

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