Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: A new specific subgroup?

Laı̈, Jean-Luc; Zandecki, Marc; Jouet, Jean‐Pierre; Savary, J; Lambiliotte, A.; Bauters, F; Cosson, Alain; Deminatti, M

doi:10.1016/0165-4608(87)90265-2

Cited by 56 publications

(8 citation statements)

References 16 publications

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“…Heim at al [3] described three cases of AML, two teenagers and one infant, with the t(8;16) as the sole chromosome abnormality. Lai et al [4] reported three more cases of t(8;16)-positive AML with additional structural chromosome aberrations present in two of them. Monocytic differentiation and phagocytosis were distinctive features of all the patients [2], [3], [4].…”

Section: Introductionmentioning

confidence: 99%

Comparison between Karyotyping-FISH-Reverse Transcription PCR and RNA- Sequencing-Fusion Gene Identification Programs in the Detection of KAT6A-CREBBP in Acute Myeloid Leukemia

et al. 2014

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An acute myeloid leukemia was suspected of having a t(8;16)(p11;p13) resulting in a KAT6A-CREBBP fusion because the bone marrow was packed with monoblasts showing marked erythrophagocytosis. The diagnostic karyotype was 46,XY,add(1)(p13),t(8;21)(p11;q22),der(16)t(1;16)(p13;p13)[9]/46,XY[1]; thus, no direct confirmation of the suspicion could be given although both 8p11 and 16p13 seemed to be rearranged. The leukemic cells were examined in two ways to find out whether a cryptic KAT6A-CREBBP was present. The first was the “conventional” approach: G-banding was followed by fluorescence in situ hybridization (FISH) and reverse transcription PCR (RT-PCR). The second was RNA-Seq followed by data analysis using FusionMap and FusionFinder programs with special emphasis on candidates located in the 1p13, 8p11, 16p13, and 21q22 breakpoints. FISH analysis indicated the presence of a KAT6A/CREBBP chimera. RT-PCR followed by Sanger sequencing of the amplified product showed that a chimeric KAT6A-CREBBP transcript was present in the patients bone marrow. Surprisingly, however, KATA6A-CREBBP was not among the 874 and 35 fusion transcripts identified by the FusionMap and FusionFinder programs, respectively, although 11 sequences of the raw RNA-sequencing data were KATA6A-CREBBP fragments. This illustrates that although many fusion transcripts can be found by RNA-Seq combined with FusionMap and FusionFinder, the pathogenetically essential fusion is not always picked up by the bioinformatic algorithms behind these programs. The present study not only illustrates potential pitfalls of current data analysis programs of whole transcriptome sequences which make them less useful as stand-alone techniques, but also that leukemia diagnosis still relies on integration of clinical, hematologic, and genetic disease features of which the former two by no means have become superfluous.

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Section: Introductionmentioning

confidence: 99%

Comparison between Karyotyping-FISH-Reverse Transcription PCR and RNA- Sequencing-Fusion Gene Identification Programs in the Detection of KAT6A-CREBBP in Acute Myeloid Leukemia

et al. 2014

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“…17,18,27 The series was supplemented with cases previously reported in the literature. [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][21][22][23][25][26][27][28] Where possible, we contacted the authors to provide missing data and material. Archive cases from the literature were only included when a well-documented cytogenetic report and clinical data were available.…”

Section: Patientsmentioning

confidence: 99%

Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Münster AML-study group

Coenen

Zwaan

Reinhardt³

et al. 2013

Blood

116

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Key Points• Pediatric t(8;16)(p11;p13) AML is a rare entity defined by a unique gene expression signature and distinct clinical features.• Spontaneous remissions occur in a subset of neonatal t(8;16)(p11;p13) AML cases.In pediatric acute myeloid leukemia (AML), cytogenetic abnormalities are strong indicators of prognosis. Some recurrent cytogenetic abnormalities, such as t(8;16)(p11;p13), are so rare that collaborative studies are required to define their prognostic impact. We collected the clinical characteristics, morphology, and immunophenotypes of 62 pediatric AML patients with t(8;16)(p11;p13) from 18 countries participating in the International Berlin-Frankfurt-Münster (I-BFM) AML study group. We used the AML-BFM cohort diagnosed from 1995-2005 (n 5 543) as a reference cohort. Median age of the pediatric t(8;16)(p11;p13) AML patients was significantly lower (1.2 years). The majority (97%) had M4-M5 French-American-British type, significantly different from the reference cohort. Erythrophagocytosis (70%), leukemia cutis (58%), and disseminated intravascular coagulation (39%) occurred frequently. Strikingly, spontaneous remissions occurred in 7 neonates with t(8;16)(p11;p13), of whom 3 remain in continuous remission. The 5-year overall survival of patients diagnosed after 1993 was 59%, similar to the reference cohort (P 5 .14). Gene expression profiles of t(8;16) (p11;p13) pediatric AML cases clustered close to, but distinct from, MLL-rearranged AML. Highly expressed genes included HOXA11, HOXA10, RET, PERP, and GGA2. In conclusion, pediatric t(8;16)(p11;p13) AML is a rare entity defined by a unique gene expression signature and distinct clinical features in whom spontaneous remissions occur in a subset of neonatal cases. (Blood. 2013;122(15):2704-2713

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“…AML with t(8;16)(p11;p13) has a very unique clinical/pathological picture and a poor prognosis, which has resulted in several proposals for a specific subclassification within the FAB system for this entity. As described above, the striking erythrophagocytosis displayed by blasts in AML with t(8;16)(p11;p13) has been discussed as a distinctive feature numerous times in the literature [2][3][4][5][6][7]9,10,14]. The breakpoint observed in AML with t(8;16) (p11;p13) involves genes that are central to erythropoiesis.…”

Section: Discussionmentioning

confidence: 97%

“…A study by Haferlach et al reported a median overall survival of 4.7 months amongst adult patients diagnosed with AML with t(8;16)(p11;p13) [5]. The French-American-British morphology classification of AML cases with t(8;16)(p11;p13) usually results in an M5 classification, but sometimes as M4 or M4/M5 variant [6][7][8][9][10][11]. The WHO classification system identifies a number of recurrent genetic abnormalities that are commonly seen in AML.…”

Section: Introductionmentioning

confidence: 99%

“…AML with t(8;16)(p11;p13) is not currently included in this list of recurrent genetic abnormalities [12]. A number of papers have proposed that AML with t(8;16)(p11;p13) constitutes its own unique syndrome based on clinical features and immunophenotype [3,5,7,10,13,14]. Classification of AML with t(8;16)(p11;p13) in the current FAB system often becomes unclear when taking immunohistochemistry into account [2,5,7].…”

Section: Introductionmentioning

confidence: 99%

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Acute Myeloid Leukemia with Translocation (8;16)(p11;p13): A Distinct Syndrome– Case Report and Literature Review

Dempsey¹,

Khushmann²,

Hosein³

et al. 2017

Oncology and cancer case reports

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Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: A new specific subgroup?

Cited by 56 publications

References 16 publications

Comparison between Karyotyping-FISH-Reverse Transcription PCR and RNA- Sequencing-Fusion Gene Identification Programs in the Detection of KAT6A-CREBBP in Acute Myeloid Leukemia

Comparison between Karyotyping-FISH-Reverse Transcription PCR and RNA- Sequencing-Fusion Gene Identification Programs in the Detection of KAT6A-CREBBP in Acute Myeloid Leukemia

Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Münster AML-study group

Acute Myeloid Leukemia with Translocation (8;16)(p11;p13): A Distinct Syndrome– Case Report and Literature Review

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