Molecular characterization and follow‐up of five <scp>CML</scp> patients with new <scp>BCR–ABL</scp>1 fusion transcripts

Huet, Sarah; Dulucq, Stéphanie; Chauveau, Aurélie; Ménard, Audrey; Chomel, Jean‐Claude; Maisonneuve, Hervé; Legros, Laurence; Perrin, M C; Ferrant, Emmanuelle; Moreilhon, Chimène; Couturier, Marie‐Anne; Sujobert, Pierre; Magaud, Jean‐Pierre; Ugo, Valérie; Chabane, Kaddour; Raynaud, Sophie; Hayette, Sandrine; Gbmhm,

doi:10.1002/gcc.22263

Cited by 15 publications

(7 citation statements)

References 32 publications

(65 reference statements)

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“…To guarantee that ABL1 protein‐coding sequence is kept in‐frame, breakpoint may occur within the BCR exon, and a sequence insertion may take place. In such cases, the breakpoint within the BCR exon and the inserted sequence are usually unique, as reported in previous studies (Sorel et al , ; Huet et al , ). In the current study, in addition to transcripts e19a2, e13a3/e14a3 and e1a2, 15 different fusion transcripts were identified in 19 patients.…”

Section: Discussionsupporting

confidence: 55%

Prevalence and outcomes of uncommon BCR‐ABL1 fusion transcripts in patients with chronic myeloid leukaemia: data from a single centre

Qin

Jiang

et al. 2018

Br J Haematol

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To explore the type, prevalence and outcomes in chronic myeloid leukaemia (CML) patients with uncommon BCR-ABL1 transcripts in the era of tyrosine kinase inhibitors (TKIs), uncommon BCR-ABL1 transcripts were screened in 4750 patients by multiplex polymerase chain reaction (PCR), and type-specific real-time quantitative PCR was regularly performed for molecular monitoring. A total of 19 uncommon transcripts, including e1a2, e1a3, e6a2, e8a2, e12a2, unusual e13a2, e13a3, unusual e14a2, e14a3 and e19a2 were identified in 83 (1·7%) patients. The three most frequent types were e19a2, e13a3/e14a3 and e1a2. Compared with the 571 newly diagnosed CML patients in chronic phase with common e13a2/e14a2 transcripts receiving frontline imatinib therapy, patients with the e19a2 (n = 16) and e1a2 (n = 11) transcripts had significantly reduced probabilities of 1-year complete cytogenetic response (CCyR, P = 0·0004 and 0·016) and major molecular response (MMR, P = 0·0018 and 0·0035), and patients with the e13a3/e14a3 transcript (n = 10) had significantly increased probabilities of 1-year CCyR (P = 0·0072) and MMR (P = 0·0073). Patients with the e19a2 transcript had low probabilities of 2-year event-free survival (EFS, P = 0·0004) and progression-free survival (P = 0·0067), and patients with the e1a2 transcript had low probability of 2-year EFS (P < 0·0001). Therefore, uncommon BCR-ABL1 fusion transcripts are rare and diverse in patients with CML and may be relevant for TKI therapy outcomes.

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Section: Discussionsupporting

confidence: 55%

Prevalence and outcomes of uncommon BCR‐ABL1 fusion transcripts in patients with chronic myeloid leukaemia: data from a single centre

Qin

Jiang

et al. 2018

Br J Haematol

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“…Other studies on different ethnic groups identified atypical BCR-ABL1 transcripts on different parts of BCR and ABL1 exons such as e1a3, e2a1, e6a2, e8a2, e13a3 (or b2a3) and e14a3 (or b3a3) [13][14][15]. Other transcripts can be identified such as e12a3, e6a3, e19a3, e20a2 and e20a3 [7].…”

Section: Discussionmentioning

confidence: 97%

Frequency of BCR-ABL 1 Fusion Transcripts Variants in Chronic Myeloid Leukemia Algerian patients

Nachi

Kihel

Entasoltane

et al. 2017

jfmo

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Objectif - Dans le contexte de la leucémie myéloïde chronique (LMC), la recherche du transcrit de fusion BCR-ABL1 est devenue indispensable pour confirmer le diagnostic moléculaire. Dans cette étude, nous décrivons les différents types de transcrits de fusion BCR-ABL1 retrouvés chez des patients de l’Ouest algérien atteints de leucémie muéloïde chronique (LMC). Méthodes - Au total 167 patients suspects de LMC ont été inclus dans cette étude. La recherche qualitative des transcrits de fusion a été réalisée au service de biochimie de l’Etablissement hospitalier et universitaire d’Oran, par la technique d’amplification en chaine par polymérase après rétro-transcription (RT-PCR). Résultats - Les deux types de transcrits de fusion BCR-ABL1de type majeur Mb3a2 et Mb2a2 étaient présents respectivement dans 59,8 et 36.4 % des cas. Deux patients (1,8%) avaient un transcrit atypique rare de type e19a2 et deux autres (1,8%), ont co-exprimé les deux types b3a2 et b2a2. Conclusion - Notre étude a confirmé les données de la littérature en montrant une incidence plus élevée du transcrit majeur.

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“…Although little is known about the function of PRDM12 in oncogenesis, previous studies showed that PRDM12 might act as a tumor suppressor gene in human chronic myeloid leukemia (CML) [ 66 , 67 , 68 ]. In approximately 15% of CML patients, deletions occur on the derivative chromosome 9 [der(9)] within a region containing the PRDM12 gene.…”

Section: Exploring Novel Prdm12 Functions: Cancermentioning

confidence: 99%

PRDM12 in Health and Diseases

Rienzo

Zazzo

Casamassimi

et al. 2021

IJMS

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PRDM12 is a member of the PRDI-BF1 (positive regulatory domain I-binding factor 1) homologous domain (PRDM)-containing protein family, a subfamily of Kruppel-like zinc finger proteins, controlling key processes in the development of cancer. PRDM12 is expressed in a spatio-temporal manner in neuronal systems where it exerts multiple functions. PRDM12 is essential for the neurogenesis initiation and activation of a cascade of downstream pro-neuronal transcription factors in the nociceptive lineage. PRDM12 inactivation, indeed, results in a complete absence of the nociceptive lineage, which is essential for pain perception. Additionally, PRDM12 contributes to the early establishment of anorexigenic neuron identity and the maintenance of high expression levels of pro-opiomelanocortin, which impacts on the program bodyweight homeostasis. PRDMs are commonly involved in cancer, where they act as oncogenes/tumor suppressors in a “Yin and Yang” manner. PRDM12 is not usually expressed in adult normal tissues but its expression is re-activated in several cancer types. However, little information is currently available on PRDM12 expression in cancers and its mechanism of action has not been thoroughly described. In this review, we summarize the recent findings regarding PRDM12 by focusing on four main biological processes: neurogenesis, pain perception, oncogenesis and cell metabolism. Moreover, we wish to highlight the importance of future studies focusing on the PRDM12 signaling pathway(s) and its role in cancer onset and progression.

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Molecular characterization and follow‐up of five CML patients with new BCR–ABL1 fusion transcripts

Cited by 15 publications

References 32 publications

Prevalence and outcomes of uncommon BCR‐ABL1 fusion transcripts in patients with chronic myeloid leukaemia: data from a single centre

Prevalence and outcomes of uncommon BCR‐ABL1 fusion transcripts in patients with chronic myeloid leukaemia: data from a single centre

Frequency of BCR-ABL 1 Fusion Transcripts Variants in Chronic Myeloid Leukemia Algerian patients

PRDM12 in Health and Diseases

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