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Low-Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10-Year Single Institution Study.
Cain, Lucy E; Mirochnik, Oksana; Stevens, Michael M; Kellie, Stewart J; Padhye, Bhavna; Keogh, Steven J; Govender, Dinisha; Ryan, Jessica; Dalla-Pozza, Luciano; Bateman, Caroline M.
Afiliación
  • Cain LE; Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Mirochnik O; Institute of Clinical Pathology and Medical Research, NSW Health Pathology, Sydney, New South Wales, Australia.
  • Stevens MM; Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Kellie SJ; Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Padhye B; Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
  • Keogh SJ; Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Govender D; Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Ryan J; Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Dalla-Pozza L; Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Bateman CM; Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Genes Chromosomes Cancer ; 63(9): e23269, 2024 Sep.
Article en En | MEDLINE | ID: mdl-39291932
ABSTRACT

INTRODUCTION:

Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL) is a high risk form of ALL associated with dismal outcomes in the pre-tyrosine kinase inhibitor (TKI) era. Addition of a TKI to chemotherapy improves outcomes. Therefore, testing for the presence of the Philadelphia chromosome by at least two methods at the time of diagnosis is critical. Diagnostic testing may include karyotype, fluorescent in situ hybridisation (FISH), and RT-PCR for the BCRABL1 transcript. The significance of low-level BCRABL1 transcript by RT-PCR in the absence of the Philadelphia chromosome on karyotype or by FISH is unknown.

METHODS:

This is a retrospective review of children diagnosed with acute leukemia at our institution from 2010 to 2020. Those positive for the BCRABL1 transcript by qualitative RT-PCR, and negative for t(9;22) by karyotype or FISH were analyzed for demographics, cytogenetic and molecular features at diagnosis and relapse, treatment and outcomes. The Kaplan-Meier method was used to estimate event-free and overall survival.

RESULTS:

Forty-seven of 306 (15%) patients with Ph- ALL had low-level BCRABL1 detected by RT-PCR. Most (77%) had B-cell ALL. The e1a2 transcript was detected most frequently, in 43 (91%) patients. BCRABL1 was quantifiable in 12/43 (28%) patients, with a median of 0.0008% (range 0.0003-0.095%). Seven patients (15%) relapsed. No patient with low-level BCRABL1 at diagnosis developed Ph + ALL at relapse. There was no difference in 5-year event-free (77% versus 81%, p = 0.407) or overall survival (86% versus 91%, p = 0.3) between children with low-level BCRABL1 (n = 47) and those without (n = 259).

CONCLUSION:

BCRABL1 low-level positivity in children with newly diagnosed Ph- ALL is a relatively common finding and did not adversely affect outcome for patients treated using a contemporary risk-adapted approach.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Fusión bcr-abl / Leucemia-Linfoma Linfoblástico de Células Precursoras Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Fusión bcr-abl / Leucemia-Linfoma Linfoblástico de Células Precursoras Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos