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A rare presentation of BCR-ABL1 and RUNX1-MECOM rearrangement in a pediatric patient with acute myeloid leukemia.

التفاصيل البيبلوغرافية
العنوان: A rare presentation of BCR-ABL1 and RUNX1-MECOM rearrangement in a pediatric patient with acute myeloid leukemia.
المؤلفون: Alamri RM; Molecular Pathology (Genetics), Cytogenetics and Hemato-pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia., Alanazi M; Molecular Pathology (Genetics), Cytogenetics and Hemato-pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia., AlRajeh RK; Molecular Pathology (Genetics), Cytogenetics and Hemato-pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia., Tashkandi SA; Molecular Pathology (Genetics), Cytogenetics and Hemato-pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia., Alswayyed AF; Molecular Pathology (Genetics), Cytogenetics and Hemato-pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia., Samman MA; Molecular Pathology (Genetics), Cytogenetics and Hemato-pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia., Peer-Zada AA; Molecular Pathology (Genetics), Cytogenetics and Hemato-pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia.
المصدر: Clinical case reports [Clin Case Rep] 2024 May 14; Vol. 12 (5), pp. e8917. Date of Electronic Publication: 2024 May 14 (Print Publication: 2024).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Chichester, UK : John Wiley & Sons
مستخلص: Key Clinical Message: In a patient with de novo AML, co-existing BCR::ABL1 p190 isoform and RUNX1::MECOM rearrangement is accompanied by a very poor prognosis including limited response to treatment and no molecular remission. It is essential to develop a consensus on the therapeutic modalities different from the current regimen.
Abstract: Acquisition of BCR::ABL1 fusion as a primary or secondary event and RUNX1::MECOM fusion independently is reported in de novo and therapy-related MDS/AML, albeit with low frequency (<0.5%). Coexistence of BCR::ABL1 and MECOM translocation is known to cause leukemogenesis in animal models and progression towards blast crisis CML but not AML. Here we report a unique case of pediatric AML with concomitant BCR::ABL1 and RUNX1::MECOM fusion.Routine diagnostic work-up included WBC manual differential, immunophenotype, morphology, qPCR, FISH, and NGS-based CNV analyses. The patient presented with history of fever, dizziness, fatigue, gingival bleeding, and epistaxis associated with ecchymosis in right hand and heavy, prolonged menstrual period. At presentation, her hemoglobin was 5.3 g/dL, WBC 52.1(10*9/L), PLT 10(10*9/L), ESR 5 mm/h and LDH 2658 U/L. Bone marrow was hypercellular with 71% blasts, and flow cytometry showed myeloid markers including CD11c, CD33, CD34, and CD45 among others indicating AML with monocytic differentiation. FISH analyses showed variant t(9;22) (q34.1;q11.1), one additional copy each of chromosome 8 and Runx1 gene, while NGS-based CNV analyses revealed a terminal and proximal pathogenic gain within 9q34.12q34.3 and 22q11.1q11.23, respectively, and gain of entire chromosome 8 and 12 in mosaic state. qPCR confirmed the presence of p190 and also revealed RUNX1::MECOM fusion. Patient received ADE (cytarabine, daunorubicin, and etoposide) induction regimen but required multiple ICU admissions due to sepsis, cardiac shock, acute myocarditis, and thyroiditis. Coexisting BCR::ABL1 and RUNX1::MECOM fusion is suggestive of poor prognosis, and a need for consensus on the treatment modalities other than the current regimen is warranted.
Competing Interests: The authors declare that there is no conflict of interest regarding the publication of this article.
(© 2024 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd.)
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فهرسة مساهمة: Keywords: BCR::ABL1 fusion; RUNX1::MECOM; acute myeloid leukemia; chronic myeloid leukemia
تواريخ الأحداث: Date Created: 20240516 Latest Revision: 20240517
رمز التحديث: 20240517
مُعرف محوري في PubMed: PMC11093904
DOI: 10.1002/ccr3.8917
PMID: 38751957
قاعدة البيانات: MEDLINE
الوصف
تدمد:2050-0904
DOI:10.1002/ccr3.8917