Novel r(2)(p25q31) cytogenetic abnormality in a pediatric patient with acute leukemia of ambiguous lineage

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Abstract

We describe a case of acute leukemia of ambiguous lineage with a novel cytogenetic abnormality. A 1-year-old boy presented with abnormal complete blood count findings, and was found to have blasts and mild dysgranulopoiesis. The blasts showed immunophenotypic evidence of myeloid and T-lineage differentiation. Subsequent cytogenetic analysis showed r(2)(p25q31) as the sole stem line cytogenetic defect with clonal evolution. While cytogenetic abnormalities can have a critical role in the classification and prognostication of acute lymphoblastic and acute myeloid leukemia, the significance of cytogenetic abnormalities in acute leukemia of ambiguous lineage remains unclear. This finding has not been reported previously to the best of our knowledge.

Original languageEnglish (US)
Pages (from-to)76-79
Number of pages4
JournalPediatric and Developmental Pathology
Volume18
Issue number1
DOIs
StatePublished - Jan 1 2015

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Chromosome Aberrations
Leukemia
Pediatrics
Clonal Evolution
Blood Cell Count
Cytogenetic Analysis
Acute Myeloid Leukemia
Cytogenetics

Keywords

  • Acute leukemia of ambiguous lineage
  • Cytogenetics
  • Mixed phenotype acute leukemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

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title = "Novel r(2)(p25q31) cytogenetic abnormality in a pediatric patient with acute leukemia of ambiguous lineage",
abstract = "We describe a case of acute leukemia of ambiguous lineage with a novel cytogenetic abnormality. A 1-year-old boy presented with abnormal complete blood count findings, and was found to have blasts and mild dysgranulopoiesis. The blasts showed immunophenotypic evidence of myeloid and T-lineage differentiation. Subsequent cytogenetic analysis showed r(2)(p25q31) as the sole stem line cytogenetic defect with clonal evolution. While cytogenetic abnormalities can have a critical role in the classification and prognostication of acute lymphoblastic and acute myeloid leukemia, the significance of cytogenetic abnormalities in acute leukemia of ambiguous lineage remains unclear. This finding has not been reported previously to the best of our knowledge.",
keywords = "Acute leukemia of ambiguous lineage, Cytogenetics, Mixed phenotype acute leukemia",
author = "Jaehyup Kim and Lihong Bu and Koduru, {Prasad R.} and Wilson, {Kathleen S.} and Fuda, {Franklin S.} and Kumar, {Kirthi R.} and Timmons, {Charles F.} and Slone, {Tamra L.} and Luu, {Hung S.}",
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T1 - Novel r(2)(p25q31) cytogenetic abnormality in a pediatric patient with acute leukemia of ambiguous lineage

AU - Kim, Jaehyup

AU - Bu, Lihong

AU - Koduru, Prasad R.

AU - Wilson, Kathleen S.

AU - Fuda, Franklin S.

AU - Kumar, Kirthi R.

AU - Timmons, Charles F.

AU - Slone, Tamra L.

AU - Luu, Hung S.

PY - 2015/1/1

Y1 - 2015/1/1

N2 - We describe a case of acute leukemia of ambiguous lineage with a novel cytogenetic abnormality. A 1-year-old boy presented with abnormal complete blood count findings, and was found to have blasts and mild dysgranulopoiesis. The blasts showed immunophenotypic evidence of myeloid and T-lineage differentiation. Subsequent cytogenetic analysis showed r(2)(p25q31) as the sole stem line cytogenetic defect with clonal evolution. While cytogenetic abnormalities can have a critical role in the classification and prognostication of acute lymphoblastic and acute myeloid leukemia, the significance of cytogenetic abnormalities in acute leukemia of ambiguous lineage remains unclear. This finding has not been reported previously to the best of our knowledge.

AB - We describe a case of acute leukemia of ambiguous lineage with a novel cytogenetic abnormality. A 1-year-old boy presented with abnormal complete blood count findings, and was found to have blasts and mild dysgranulopoiesis. The blasts showed immunophenotypic evidence of myeloid and T-lineage differentiation. Subsequent cytogenetic analysis showed r(2)(p25q31) as the sole stem line cytogenetic defect with clonal evolution. While cytogenetic abnormalities can have a critical role in the classification and prognostication of acute lymphoblastic and acute myeloid leukemia, the significance of cytogenetic abnormalities in acute leukemia of ambiguous lineage remains unclear. This finding has not been reported previously to the best of our knowledge.

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