Myelodysplastic features in a patient with germline<i>CEBPA</i>-mutant acute myeloid leukaemia

Yan, Benedict; Ng, Christopher; Moshi, Grace; Ban, Kenneth H K; Lee, Peak-Ling; Seah, Elaine; Chiu, Lily; Koay, Evelyn S C; Liu, Te-Chih; Ng, Chin Hin; Chng, Wee‐Joo; Koh, Liang Piu

doi:10.1136/jclinpath-2016-203672

Cited by 11 publications

(6 citation statements)

References 33 publications

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“…In brief, targeted DNA sequencing was performed using the TruSeq Custom Amplicon assay for the TruSight Myeloid Sequencing Panel (Illumina) as previously described 29 30. The 54 genes assessed via the TruSight Myeloid Sequencing Panel include ABL1, ASXL1, ATRX, BCOR, BCORL1, BRAF, CALR, CBL, CBLB, CBLC, CDKN2A, CEBPA, CSF3R, CUX1, DNMT3A, ETV6, EZH2, FBXW7, FLT3, GATA1,GATA2, GNAS, HRAS, IDH1, IDH2, IKZF1, JAK2, JAK3, KDM6A, KIT, KMT2A, KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PHF6, PTEN, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1 and ZRSR2.…”

Section: Methodsmentioning

confidence: 99%

Clinical implications ofDNMT3Amutations in a Southeast Asian cohort of acute myeloid leukaemia patients

Tan

Ban

et al. 2017

J Clin Pathol

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Section: Methodsmentioning

confidence: 99%

Clinical implications ofDNMT3Amutations in a Southeast Asian cohort of acute myeloid leukaemia patients

Tan

Ban

et al. 2017

J Clin Pathol

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“…Germline mutations in CCAAT enhancer binding protein a (CEBPa) predisposing to AML (OMIM: 601626) were first described in 2004, 2 yet patients and families identified with germline CEBPA mutations are probably very rare (0.65% of AML patients), 104 and only 68 patients from 26 families have been described in the literature. 2,[104][105][106][107][108][109][110][111][112][113][114][115][116][117][118][119] The single-exon gene CEBPA encodes CEBPa, which is the founder of the 6-CEBP family of TFs. 120 All CEBP TFs contain a basic leucine zipper (bZIP) domain at the C terminus and form a subgroup within the leucine zipper family of TFs.…”

Section: Germline Cebpa Mutations and Aml Predispositionmentioning

confidence: 99%

Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)

Brown

Hahn

Scott

2020

Blood

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Abstract Recognition that germline mutations can predispose individuals to blood cancers, often presenting as secondary leukemias, has largely been driven in the last 20 years by studies of families with inherited mutations in the myeloid transcription factors (TFs) RUNX1, GATA2, and CEBPA. As a result, in 2016, classification of myeloid neoplasms with germline predisposition for each of these and other genes was added to the World Health Organization guidelines. The incidence of germline mutation carriers in the general population or in various clinically presenting patient groups remains poorly defined for reasons including that somatic mutations in these genes are common in blood cancers, and our ability to distinguish germline (inherited or de novo) and somatic mutations is often limited by the laboratory analyses. Knowledge of the regulation of these TFs and their mutant alleles, their interaction with other genes and proteins and the environment, and how these alter the clinical presentation of patients and their leukemias is also incomplete. Outstanding questions that remain for patients with these germline mutations or their treating clinicians include: What is the natural course of the disease? What other symptoms may I develop and when? Can you predict them? Can I prevent them? and What is the best treatment? The resolution of many of the remaining clinical and biological questions and effective evidence-based treatment of patients with these inherited mutations will depend on worldwide partnerships among patients, clinicians, diagnosticians, and researchers to aggregate sufficient longitudinal clinical and laboratory data and integrate these data with model systems.

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“…[2][3][4][5][6][7][8][9][10][11][12][13] Studies of large series of normal-karyotype AML have reported a frequency of CEBPA mutation of 8% to 13% 4,8,14 ; among these, 7% to 11% have germline CEBPA mutations. 4,8 The majority of the AML patients have 2 CEBPA mutations with both N-terminal frameshift mutation and C-terminal inframe mutation on different alleles.…”

Section: Aml With Germline Cebpa Mutationmentioning

confidence: 99%

Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists

Gao

Gong

Chen

2018

Archives of Pathology &Amp; Laboratory Medicine

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Context.— Myeloid neoplasms with familial occurrence have been rarely reported in the past. With the advance of molecular technology and better understanding of the molecular pathogenesis of myeloid neoplasms, investigating the genetic causes of familial acute myeloid leukemia or myelodysplastic syndrome has become feasible in the clinical setting. Recent studies have identified a rapidly expanding list of germline mutations associated with increased risks of developing myeloid neoplasm in the affected families. It is important to recognize these entities, as such a diagnosis may dictate a unique approach in clinical management and surveillance for the patients and carriers. Objective.— To raise the awareness of myeloid neoplasms arising in the setting of familial inheritance among practicing pathologists. Data Sources.— Based on recent literature and the 2016 revision of the World Health Organization classification of hematopoietic neoplasms, we provide an up-to-date review of myeloid neoplasm with germline predisposition. Conclusions.— This short review focuses on the clinical, pathologic, and molecular characterization of myeloid neoplasm with germline predisposition. We emphasize the important features that will help practicing pathologists to recognize these newly described entities.

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Myelodysplastic features in a patient with germlineCEBPA-mutant acute myeloid leukaemia

Cited by 11 publications

References 33 publications

Clinical implications ofDNMT3Amutations in a Southeast Asian cohort of acute myeloid leukaemia patients

Clinical implications ofDNMT3Amutations in a Southeast Asian cohort of acute myeloid leukaemia patients

Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)

Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists

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