Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults

Xie, Wei; Hu, Shimin; Xu, Jie; Chen, Zhining; Medeiros, L. Jeffrey; Tang, Guilin

doi:10.1007/s00277-019-03637-7

Cited by 29 publications

(38 citation statements)

References 23 publications

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“…In previous large studies, approximately 160 AML cases with t(8;16)(p11.2;p13.3) have been reported [13][14][15][16][17][18][19][20]. Among them, 9…”

Section: Discussionmentioning

confidence: 99%

“…cases showed a gain by 1q of variable sizes [13][14][15]19]. As an uncommon entity, t(8;16) accounts for 0.2 to 0.4% of all cases of AML [13][14][15][16][17][18][19][20].…”

Section: Discussionmentioning

confidence: 99%

“…However, AML with t(8;16) (p11.2;p13.3)/KAT6A-CREBBP is a very rare AML subtype and can be found in any age group, from infancy to the eighth decade of life, with a female predominance [13][14][15][16][17]. A majority of adult patients with t(8;16)(p11.2;p13.3) are therapy related [14][15][16][17], and pediatric patients tend to be de novo [13]. There are approximately 160 cases reported in the literature [13][14][15][16][17], and the rst t(8;16)(p11.2;p13.3) in an infant was described in 1983 [18].…”

Section: Introductionmentioning

confidence: 99%

“…A majority of adult patients with t(8;16)(p11.2;p13.3) are therapy related [14][15][16][17], and pediatric patients tend to be de novo [13]. There are approximately 160 cases reported in the literature [13][14][15][16][17], and the rst t(8;16)(p11.2;p13.3) in an infant was described in 1983 [18]. Some AML patients with t(8;16) (p11.2;p13.3) have a bleeding tendency and disseminated intravascular coagulopathy, which are overlapping clinical features that mimic acute promyelocytic leukemia (APL) [17].…”

Section: Introductionmentioning

confidence: 99%

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Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review

Yuan²,

Wang

et al. 2020

Preprint

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Background: Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diagnosis and management of AML patients. Compared with recurrent chromosomal translocations in AML, t(8;16)(p11.2;p13.3) can be found in any age group but is very rare and typically associated with poor prognosis.Methods: Conventional cytogenetic studies were performed among 1,824 AML patients recorded in our oncology database over the last 20 years. Fluorescence in situ hybridization (FISH) was carried out to detect the translocation fusion. Array comparative genome hybridization (aCGH) was carried out to further characterize the duplication of chromosomes.Results: We identified three AML patients with t(8;16)(p11.2;p13.3) by chromosome analysis. Two of the three patients, who harbored an additional 1q duplication, were detected by FISH and aCGH. aCGH characterized a 46.7 Mb and 49.9 Mb gain in chromosome 1 at band q32.1q44 separately in these two patients. One patient achieved complete remission (CR) but relapsed three months later. The other patient never experienced CR and died two years after diagnosis.Conclusion: A 1q duplication was detected in two of three AML patients with t(8;16)(p11.2;p13.3), suggesting that 1q duplication can be a recurrent event in AML patients with t(8;16). In concert with the findings of previous studies on similar patients, our work suggests that 1q duplication may also be an unfavorable prognostic factor of the disease.

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“…In previous large studies, approximately 160 AML cases with t(8;16)(p11.2;p13.3) have been reported [13][14][15][16][17][18][19][20]. Among them, 9…”

Section: Discussionmentioning

confidence: 99%

“…cases showed a gain by 1q of variable sizes [13][14][15]19]. As an uncommon entity, t(8;16) accounts for 0.2 to 0.4% of all cases of AML [13][14][15][16][17][18][19][20].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review

Yuan²,

Wang

et al. 2020

Preprint

View full text Add to dashboard Cite

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“…Chromosomal translocations such as t(15;17)/PML-RARA , t(8;21)/RUNX1-RUNX1T1, inv(16)/CBFB-MYH11 and t(11q23)/MLL are usually found in AML patients [11,12]. However, AML with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP is a very rare AML subtype and can be found in any age group, from infancy to the eighth decade of life, with a female predominance [13][14][15][16][17]. A majority of adult patients with t(8;16) (p11.2;p13.3) are therapy related [14][15][16][17], and pediatric patients tend to be de novo [13].…”

Section: Introductionmentioning

confidence: 99%

Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review

Ren

Wang

et al. 2020

Mol Cytogenet

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Background: Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diagnosis and management of AML patients. Compared with recurrent chromosomal translocations in AML, t(8;16) (p11.2;p13.3) can be found in any age group but is very rare and typically associated with poor prognosis. Methods: Conventional cytogenetic studies were performed among 1,824 AML patients recorded in our oncology database over the last 20 years. Fluorescence in situ hybridization (FISH) was carried out to detect the translocation fusion. Array comparative genome hybridization (aCGH) was carried out to further characterize the duplication of chromosomes. Results: We identified three AML patients with t(8;16)(p11.2;p13.3) by chromosome analysis. Two of the three patients, who harbored an additional 1q duplication, were detected by FISH and aCGH. aCGH characterized a 46.7 Mb and 49.9 Mb gain in chromosome 1 at band q32.1q44 separately in these two patients. One patient achieved complete remission (CR) but relapsed 3 months later. The other patient never experienced CR and died 2 years after diagnosis. Conclusion: A 1q duplication was detected in two of three AML patients with t(8;16)(p11.2;p13.3), suggesting that 1q duplication can be a recurrent event in AML patients with t(8;16). In concert with the findings of previous studies on similar patients, our work suggests that 1q duplication may also be an unfavorable prognostic factor of the disease.

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Acute myeloid leukemia with a severe coagulopathy and t(8;16)(p11;p13)

2023

Hematology

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Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults

Cited by 29 publications

References 23 publications

Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review

Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review

Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review

Acute myeloid leukemia with a severe coagulopathy and t(8;16)(p11;p13)

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