Chromosomal abnormality inv(3)(q21q26) associated with multilineage hematopoietic progenitor cells in hematopoietic malignancies

Shi, Guangping; Weh, Hans-Josef; Zeller, W.; Hossfeld, Dieter K.

doi:10.1016/s0165-4608(96)00293-2

Cited by 36 publications

(28 citation statements)

References 20 publications

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“…[2][3][4][5]9,34,35 Inv(3)3/t(3;3) patients were old with a median age of 57 years and had a M:F ratio of 0.87. However, inv(3)/t(3;3) patients are slightly younger than the reported average age of adult AML or MDS in general.…”

Section: Discussionmentioning

confidence: 99%

“…Rogers et al 826 haematologica | 2014; 99(5) patients, as has been reported. 5,6,9,35 Dysplastic features were common, including the characteristic dysmegakaryopoiesis. While some laboratory or pathological features (WBC, BM cellularity, BM blast percentage, degree of dysplasia) differed between MDS and AML, these can be argued to be more a consequence of the definitions used for classification than a reflection of any true biological difference between MDS and AML with inv(3)/t (3;3).…”

Section: Discussionmentioning

confidence: 99%

“…Similarly, the prognosis of MDS with inv(3)/t(3;3) is also poor. 5,8,9 Indeed, the revised International Prognostic Scoring System (IPSS-R) for MDS includes inv(3)/t(3;3) among its poor risk cytogenetic abnormalities. 10,11 Inv(3)/t(3;3) abnormalities involve EVI1 and MDS1 at chromosome 3q26 and RPN1, GATA2 and other genes at chromosome 3q21.…”

Section: Introductionmentioning

confidence: 99%

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Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study

et al. 2014

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study

et al. 2014

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“…Patients with these karyotypes share clinical features, including multilineage involvement, in particular, erythroid and megakaryocytic dysplasia, with micromegakaryocytes that have hypolobulated nuclei, an elevated or normal (instead of low) platelet count, poor prognosis, with minimal or no response to chemotherapy, and a short survival (Bitter et al, 1985;Jenkins et al, 1989;Lee et al, 1990;Jotterand Bellomo et al, 1992;Grigg et al, 1993;Fonatsch et al, 1994;Secker-Walker et al, 1995;Shi et al, 1997;Testoni et al, 1999;Reiter et al, 2000). The chromosomal breakpoints (BPs) in 3q26 are scattered over several hundred kilobases (kb) either in the 5Ј or the 3Ј region of the EVI1 gene (Morishita et al, 1992;Levy et al, 1994;Suzukawa et al, 1994).…”

Section: Introductionmentioning

confidence: 99%

Molecular heterogeneity in AML/MDS patients with 3q21q26 rearrangements

Lahortiga

Vázquez

Agirre

et al. 2004

Genes Chromosomes & Cancer

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Patients with 3q21q26 rearrangements seem to share similar clinicopathologic features and a common molecular mechanism, leading to myelodysplasia or acute myeloid leukemia (AML). The ectopic expression of EVI1 (3q26) has been implicated in the dysplasia that characterizes this subset of myeloid neoplasias. However, lack of EVI1 expression has been reported in several cases, and overexpression of EVI1 was detected in 9% of AML cases without 3q26 abnormalities. We report the molecular characterization of seven patients with inv(3)(q21q26), t(3;3)(q21;q26) or related abnormalities. EVI1 expression was detected in only one case, and thus ectopic expression of this gene failed to explain all of these cases. GATA2 (3q21) was found to be overexpressed in 5 of the 7 patients. GATA2 is highly expressed in stem cells, and its expression dramatically decreases when erythroid and megakaryocytic differentiation proceeds. No mutations in GATA1 were found in any patient, excluding loss of function of GATA1 as the cause of GATA2 overexpression. We report finding molecular heterogeneity in patients with 3q21q26 rearrangements in both breakpoints and in the expression pattern of the genes near these breakpoints. Our data suggest that a unique mechanism is not likely to be involved in 3q21q26 rearrangements.

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“…myeloid antigens (CD13, CD33, CD117, and MPO) and uncommitted antigens, such as CD34, HLA-DR, and CD56 (Figure 1, B). 13,14 Acute myeloid leukemia with inv(3)/t(3;3) can be either de novo 6,12,15 or therapy related, 12,16 and typically has a very poor prognosis, 6,7,[12][13][14] with a reported overall survival of 7.9 months. 12 Notably, the 3q21q26 syndrome can also be associated with central diabetes insipidus.…”

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confidence: 99%

The New Clinicopathologic and Molecular Findings in Myeloid Neoplasms With inv(3)(q21q26)/t(3;3)(q21;q26.2)

Wang

Rashidi

2016

Archives of Pathology &Amp; Laboratory Medicine

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Context.-Inv(3)(q21q26)/t(3;3)(q21;q26.2) is the most common form of genetic abnormality of the so-called 3q21q26 syndrome. Myeloid neoplasms with 3q21q26 aberrancies include acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and blast crisis of myeloproliferative neoplasms. Recent advances on myeloid neoplasms with inv(3)/t(3;3) with regard to clinicopathologic features and novel molecular or genomic findings warrant a comprehensive review on this topic.Objective.-To review the clinicopathologic features and molecular as well as genomic alterations in myeloid neoplasms with inv(3)/t(3;3).Data Sources.-The data came from published articles in English-language literature.Conclusions.-At the clinicopathologic front, recent studies on MDS with inv(3)/t(3;3) have highlighted their overlapping clinicopathologic features with and similar overall survival to that of inv(3)/t(3;3)-harboring AML regardless of the percentage of myeloid blasts. On the molecular front, AML and MDS with inv(3)/t(3;3) exhibit gene mutations, which affect the RAS/receptor tyrosine kinase pathway. Furthermore, functional genomic studies using genomic editing and genome engineering have shown that the reallocation of the GATA2 distal hematopoietic enhancer to the proximity of the promoter of ectopic virus integration site 1 (EVI1) without the formation of a new oncogenic fusion transcript is the molecular mechanism underlying these inv(3)/t(3;3) myeloid neoplasms. Although the AML and MDS with inv(3)/t(3;3) are listed as a separate category of myeloid malignancies in the 2008 World Health Organization classification, the overlapping clinicopathologic features, similar overall survival, and identical patterns at the molecular and genomic levels between AML and MDS patients with inv(3)/t(3;3) may collectively favor a unification of AML and MDS with inv(3)/t(3;3) as AML or myeloid neoplasms with inv(3)/t(3;3) regardless of the blast count.(Arch Pathol Lab Med. 2016;140:1404-1410; doi: 10.5858/arpa.2016-0059-RA) B efore we review the recent advances of myeloid neoplasms with inv(3)(q21q26)/t(3;3)(q21;q26.2) [referred to as inv(3)/t(3;3) hereafter], the clinicopathologic features of inv(3)/t(3;3) are worth being mentioned here. The structural changes involving the long arm of chromosome 3 at bands 3q21 and 3q26.2 in the forms of inversion and translocation-namely, paracentric inversion [inv(3)(q21q26.2), referred to as inv (3) hereafter] and homologous translocations [t(3;3)(q21;q26.2), referred to as t(3;3) hereafter]-in myeloid neoplasms have long been recognized. [1][2][3][4][5] Together inv(3), t(3;3), and sometimes insertions (ins) [ins(3;3)(q26;q21q26)] or duplications (dup) [dup(3)(q21-q26)] of these chromosomal regions are collectively termed as a 3q21q26 syndrome.5 Myeloid neoplasms with 3q21q26 anomalies are not only seen in acute myeloid leukemias (AMLs), 6,7 but also in myelodysplastic syndromes (MDS) 5; blast crisis of myeloproliferative neoplasm (MPN), such as chronic myelogenous leukemia 8 or leukemic transformation of essen...

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Chromosomal abnormality inv(3)(q21q26) associated with multilineage hematopoietic progenitor cells in hematopoietic malignancies

Cited by 36 publications

References 20 publications

Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study

Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study

Molecular heterogeneity in AML/MDS patients with 3q21q26 rearrangements

The New Clinicopathologic and Molecular Findings in Myeloid Neoplasms With inv(3)(q21q26)/t(3;3)(q21;q26.2)

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