FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype

Barrett, Rachel; Morash, Barbara; Roback, David; Pambrun, Chantale; Marfleet, Lesley; Ketterling, Rhett P.; Harrison, Karen J.; Berman, Jason N.

doi:10.1002/pbc.26450

Cited by 28 publications

(25 citation statements)

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“…Other subtypes of AML that are more characteristic of older children and adults can, likewise, present as neonatal leukaemia, specifically t(8;21)(q22;q22.1); RUNX1‐RUNX1T1 (Nanda et al , ) and t(8;16)(p11.2;p13.3)/ KAT6A‐CREBBP and variants (Table ). Cases with t(8;16) (Schouten et al , ; Bernstein et al , ; Zandecki et al , ; Hanada et al , ; Sainati et al , ; Dinulos et al , ; Classen et al , ; Wong et al , ; Wu et al , ; Coenen et al , ; Barrett et al , ), together with those with t(1;22), are the most common subtypes of neonatal AML after cases with rearrangement of KMT2A . It is of interest that two neonates with t(8;16)‐associated neonatal leukaemia had underlying Noonan syndrome (Wong et al , ; Barrett et al , ).…”

Section: Neonatal Acute Myeloid Leukaemia Not Involving Kmt2a/11q233mentioning

confidence: 99%

“…Spontaneous remission of leukaemia, reminiscent of that occurring in the majority of cases of TAM, is a well‐recognised feature of cases of neonatal leukaemia associated with t(8;16)/ KAT6A‐CREBBP ; some such cases subsequently relapse (Dinulos et al , ; Wong et al , ; Coenen et al , ; Barrett et al , ) but not all do so (Sainati et al , ; Classen et al , ; Terui et al , ; Wu et al , ). A very high white cell count does not preclude spontaneous remission.…”

Section: Spontaneous Remission (Table )mentioning

confidence: 99%

“…(Table IV) Spontaneous remission of leukaemia, reminiscent of that occurring in the majority of cases of TAM, is a well-recognised feature of cases of neonatal leukaemia associated with t(8;16)/ KAT6A-CREBBP; some such cases subsequently relapse (Dinulos et al, 1997;Wong et al, 2008;Coenen et al, 2013;Barrett Acute myelomonocytic (Pui et al, 1987) or acute monocytic/monoblastic leukaemia (Bresters et al, 2002) *In addition there are a number of other reports of neonatal leukaemia with t(11;19) without the 19p13 breakpoint or the fusion gene being fully specified. (Terui et al, 2008) and cryptic insertion of CREBBP into chromosome 16 (Barrett et al, 2017) Mainly acute monoblastic or acute monocytic leukaemia (Schouten et al, 1983;Bernstein et al, 1987;Zandecki et al, 1988;Hanada et al, 1991;Sainati et al, 1996;Classen et al, 2005;Terui et al, 2008;Sung et al, 2010;Coenen et al, 2013;(cases 17, 19, 23, 43) (Sainati et al, 1996;Classen et al, 2005;Terui et al, 2008;Wu et al, 2011a). A very high white cell count does not preclude spontaneous remission.…”

Section: Neonatal Blastic Plasmacytoid Dendritic Cell Neoplasm (Bpdcn)mentioning

confidence: 99%

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Neonatal leukaemia

et al. 2018

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Neonatal leukaemia is defined as occurring within the first 28 days of life and most, if not all, cases are congenital. With the exception of Down syndrome-associated transient abnormal myelopoiesis, which is not considered here, neonatal leukaemias are rare. In two-thirds of patients the disease manifests as an acute myeloid leukaemia, frequently with monocytic/monoblastic characteristics. Most other cases are acute lymphoblastic leukaemia, particularly B lineage, but some are mixed phenotype or blastic plasmacytoid dendritic cell neoplasms. The most frequently observed cytogenetic/molecular abnormality is t(4;11)(q21.3;q23.3)/KMT2A-AFF1 followed by t(1;22)(p13.3;q13.1)/RBM15-MKL1 and t(8;16)(p11.2;p13.3)/KAT6A-CREBBP. Common clinical features include prominent hepatosplenomegaly and a high incidence of skin involvement, sometimes in the absence of bone marrow disease. A distinctive feature is the occurrence of spontaneous remission in some cases, particularly in association with t(8;16). In this review, we summarise current knowledge of the clinical, cytogenetic and molecular features of neonatal leukaemia and discuss clinical management of these cases.

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Section: Neonatal Acute Myeloid Leukaemia Not Involving Kmt2a/11q233mentioning

confidence: 99%

Section: Spontaneous Remission (Table )mentioning

confidence: 99%

Section: Neonatal Blastic Plasmacytoid Dendritic Cell Neoplasm (Bpdcn)mentioning

confidence: 99%

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Neonatal leukaemia

et al. 2018

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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%

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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“…

A published case has been cited incorrectly by Roberts et al (2018). The case reported by Barrett et al (2017) with a cryptic KAT6A-CREBBP fusion should have been listed among the cases that remitted spontaneously and did not relapse, and did not have Noonan syndrome. There is thus only one reported case of neonatal leukaemia with t(8;16);KAT6A-CREBBP with Noonan syndrome.

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confidence: 99%

Corrigendum

2019

Br J Haematol

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FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype

Cited by 28 publications

References 15 publications

Neonatal leukaemia

Neonatal leukaemia

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

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