Myelodysplastic syndromes with deletions of chromosome 11q lack cryptic MLL rearrangement and exhibit characteristic clinicopathologic features

Wang, Sa A.; Abruzzo, Lynne V.; Zhang, Liping; Hu, Ying; Zhang, Yanpeng; Zhao, Ming; Galili, Naomi; Raza, Azar; Medeiros, L. Jeffrey; Miranda, Roberto N.

doi:10.1016/j.leukres.2010.07.018

Cited by 16 publications

(18 citation statements)

References 25 publications

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“…In our series of 852 patients with MDS/AML, del(11)(q14) was revealed in seven patients (0.8%), a prevalence in accordance with the literature (13). In fact, a recent study reported that del(11q) as a single defect or a part of a non-complex karyotype occurs at an incidence of approximately 0.6% (13). However, most patients exhibited an interstitial long-arm deletion defined as del(11)(q13q23) or del(11)(q13q33), and only three had a terminal deletion involving bands q13-q14.…”

Section: Discussionsupporting

confidence: 91%

“…The present study aimed at establishing whether peculiar clinicohematological and morphological findings present in patients with a del(11)(q14) as determined by CC could be due to a CBR. In our series of 852 patients with MDS/AML, del(11)(q14) was revealed in seven patients (0.8%), a prevalence in accordance with the literature (13). In fact, a recent study reported that del(11q) as a single defect or a part of a non-complex karyotype occurs at an incidence of approximately 0.6% (13).…”

Section: Discussionsupporting

confidence: 90%

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MDS/AML del(11)(q14) Share Common Morphological Features Despite Different Chromosomal Breakpoints

Dambruoso

Invernizzi

Boni

et al. 2017

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In myelodysplatic syndromes and acute myeloid leukemia (MDS/AML) deletion of the 11q14 region is a rare chromosomal defect (incidence: 0.6-1.0%), included within the intermediate risk criteria by the International Prognostic Scoring System. No fluorescence in situ hybridization (FISH) study has yet been performed to identify a common breakpoint region (CBR). In our study through FISH with bacterial artificial chromosomes and commercial probes, we analyzed seven patients with MDS/AML harboring 11q14 deletion on conventional cytogenetic analysis. FISH revealed deletions in five patients and amplifications in two. Three patients with deletion carried a CBR, two had a deletion involving a more centromeric breakpoint. These five patients exhibited multilineage dysplasia, blast cells with large round nuclei, loose chromatin, small and abundant nucleoli, and vacuolated cytoplasm with very thin Auer bodies. In conclusion, the morphological features which occur independently of the extent of the deletion are of multilineage dysplasia in MDS and leukemic blasts strongly reactive to peroxidase in AML; despite the variable size of the deleted area, some patients harbor a CBR.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 90%

MDS/AML del(11)(q14) Share Common Morphological Features Despite Different Chromosomal Breakpoints

Dambruoso

Invernizzi

Boni

et al. 2017

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“…This probe is considered The ATM gene is located on chromosome 11q22.3 to 23.1. Although there are few MDS patients with del (11q), the 11q22 band, which includes the ATM gene, is deleted in 70% of MDS patients with del (11q) (17). The present patient had ATM gene deletion and her clinical course was similar to that of MDS patients with del (11q).…”

Section: Discussionsupporting

confidence: 53%

“…The IPSS-R also predicts the outcome of patients with secondary AML evolving from MDS (16). MDS patients with del (11q) have been reported to show a smoldering clinical course and severe anemia requiring RBC transfusions (17).…”

Section: Discussionmentioning

confidence: 99%

Acute Megakaryoblastic Leukemia with Myelodysplasia-related Changes Associated with ATM Gene Deletion

et al. 2016

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Ataxia telangiectasia mutated (ATM) is a tumor suppressor gene, and its somatic inactivation plays a role in the pathogenesis of lymphoid malignancies. However, the role of ATM in patients with myeloid malignancies is still unknown. We herein report a case of acute megakaryoblastic leukemia (AMKL) with ATM gene deletion. An 84-year-old Japanese woman presenting with a pale face and pancytopenia was admitted to our institution and diagnosed to have AMKL with ATM gene deletion. She was treated with intravenous azacitidine. The azacitidine treatment was effective for approximately 1 year. Somatic inactivation of the ATM gene may therefore be involved in the pathogenesis of AMKL.

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“…In humans, H2AX is located on chromosome 11q23, which is deleted in a small subset of MDS patients with a reported frequency of 0.6% 32 . To determine whether del(11q) is associated with increased dysplasia of erythroid cells, we collocated seven del(11q) MDS cases (both sole del(11q) and in combination with other cytogenetic abnormalities) in the past 5 years from a single medical centre.…”

Section: Resultsmentioning

confidence: 99%

H2AX deficiency is associated with erythroid dysplasia and compromised haematopoietic stem cell function

Zhao

Tan

Mei

et al. 2016

Sci Rep

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Myelodysplastic syndromes (MDS) are clonal disorders of haematopoiesis characterised by dysplastic changes of major myeloid cell lines. However, the mechanisms underlying these dysplastic changes are poorly understood. Here, we used a genetically modified mouse model and human patient data to examine the physiological roles of H2AX in haematopoiesis and how the loss of H2AX contributes to dyserythropoiesis in MDS. H2AX knockout mice showed cell-autonomous anaemia and erythroid dysplasia, mimicking dyserythropoiesis in MDS. Also, dyserythropoiesis was increased in MDS patients with the deletion of chromosome 11q23, where H2AX is located. Although loss of H2AX did not affect the early stage of terminal erythropoiesis, enucleation was decreased. H2AX deficiency also led to the loss of quiescence of hematopoietic stem and progenitor cells, which dramatically compromised their bone marrow engraftment. These results reveal important roles of H2AX in late-stage terminal erythropoiesis and hematopoietic stem cell function.

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Myelodysplastic syndromes with deletions of chromosome 11q lack cryptic MLL rearrangement and exhibit characteristic clinicopathologic features

Cited by 16 publications

References 25 publications

MDS/AML del(11)(q14) Share Common Morphological Features Despite Different Chromosomal Breakpoints

MDS/AML del(11)(q14) Share Common Morphological Features Despite Different Chromosomal Breakpoints

Acute Megakaryoblastic Leukemia with Myelodysplasia-related Changes Associated with ATM Gene Deletion

H2AX deficiency is associated with erythroid dysplasia and compromised haematopoietic stem cell function

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