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Mixed Phenotype Acute Leukemia with Low Hypodiploidy in a Pediatric Patient.

Salazar EG, Wertheim GB, Biegel JA, Hwang W, Tasian SK, Rheingold SR - J Pediatr Oncol (2015)

Bottom Line: We describe the case of a 16 year-old female with mixed phenotype acute leukemia B/myeloid, NOS (formerly biphenotypic leukemia) with masked hypodiploidy and somatic TP53 and CDKN2A/B deletions.She achieved morphologic remission with lymphoid-directed multi-agent chemotherapy, but experienced an early medullary relapse 11 months from initial diagnosis.Her case details the unusual finding of hypodiploidy in a patient with ambiguous lineage leukemia and highlights the complexity of therapy selection for these high-risk patients.

View Article: PubMed Central - PubMed

Affiliation: Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

ABSTRACT

We describe the case of a 16 year-old female with mixed phenotype acute leukemia B/myeloid, NOS (formerly biphenotypic leukemia) with masked hypodiploidy and somatic TP53 and CDKN2A/B deletions. She achieved morphologic remission with lymphoid-directed multi-agent chemotherapy, but experienced an early medullary relapse 11 months from initial diagnosis. Her case details the unusual finding of hypodiploidy in a patient with ambiguous lineage leukemia and highlights the complexity of therapy selection for these high-risk patients.

No MeSH data available.


Related in: MedlinePlus

Histopathology and flow cytometry of relapsed leukemia specimen. A bone marrow aspirate showing a densely packed marrow (A) as well as large, atypical, vacuolated blasts (B). Flow cytometry (C) of relapsed leukemia was positive for B cell markers including CD19, CD24, CD22, and cCD79a, as well as positive for myeloid markers MPO and CD15. CD10 is negative. (A) Wright-Giemsa, ×40; (B) Wright-Giemsa × 600.
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Figure 2: Histopathology and flow cytometry of relapsed leukemia specimen. A bone marrow aspirate showing a densely packed marrow (A) as well as large, atypical, vacuolated blasts (B). Flow cytometry (C) of relapsed leukemia was positive for B cell markers including CD19, CD24, CD22, and cCD79a, as well as positive for myeloid markers MPO and CD15. CD10 is negative. (A) Wright-Giemsa, ×40; (B) Wright-Giemsa × 600.

Mentions: Four months after chemotherapy completion, the patient re-presented to our institution due to worsening thrombocytopenia. Bone marrow aspirate, biopsy, and extensive leukemia genetic testing (cytogenetics, whole genome single nucleotide polymorphism (SNP) microarray, targeted hematologic malignancies DNA sequencing mutation analysis) were performed given the initial complexity of her leukemia diagnosis and potential leukemic evolution upon relapse. Bone marrow morphology from the relapse specimen contained 83.5% large, vacuolated leukemic blasts and no visible Auer rods [12]. Flow cytometric immunophenotyping confirmed a B/myeloid MPAL with blasts brightly positive for CD45, CD34, and CD19, variably positive for CD9, CD38, CD24, and CD15, and subset positive for sCD22, cCD79a, TdT, and MPO. CD10, CD2, CD3, CD5, CD7, and CD8 staining was negative. Cytogenetic analyses demonstrated 65 chromosomes in the leukemic cells. SNP array analysis demonstrated loss of heterozygosity and two copies of chromosomes 3, 4, 5, 7, 9, 13, 15, 16, 17, 20, and X, trisomies of chromosomes 1, 2, 10, 18, and 19, and tetrasomy of chromosomes 6, 8, 11, 12, 14, 21, and 22 (Figures 1 and 2). These results are consistent with doubling of a low hypodiploid clone with 35 chromosomes, with subsequent loss of one copy of chromosomes 1, 2, 10, 18 and 19.


Mixed Phenotype Acute Leukemia with Low Hypodiploidy in a Pediatric Patient.

Salazar EG, Wertheim GB, Biegel JA, Hwang W, Tasian SK, Rheingold SR - J Pediatr Oncol (2015)

Histopathology and flow cytometry of relapsed leukemia specimen. A bone marrow aspirate showing a densely packed marrow (A) as well as large, atypical, vacuolated blasts (B). Flow cytometry (C) of relapsed leukemia was positive for B cell markers including CD19, CD24, CD22, and cCD79a, as well as positive for myeloid markers MPO and CD15. CD10 is negative. (A) Wright-Giemsa, ×40; (B) Wright-Giemsa × 600.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4626005&req=5

Figure 2: Histopathology and flow cytometry of relapsed leukemia specimen. A bone marrow aspirate showing a densely packed marrow (A) as well as large, atypical, vacuolated blasts (B). Flow cytometry (C) of relapsed leukemia was positive for B cell markers including CD19, CD24, CD22, and cCD79a, as well as positive for myeloid markers MPO and CD15. CD10 is negative. (A) Wright-Giemsa, ×40; (B) Wright-Giemsa × 600.
Mentions: Four months after chemotherapy completion, the patient re-presented to our institution due to worsening thrombocytopenia. Bone marrow aspirate, biopsy, and extensive leukemia genetic testing (cytogenetics, whole genome single nucleotide polymorphism (SNP) microarray, targeted hematologic malignancies DNA sequencing mutation analysis) were performed given the initial complexity of her leukemia diagnosis and potential leukemic evolution upon relapse. Bone marrow morphology from the relapse specimen contained 83.5% large, vacuolated leukemic blasts and no visible Auer rods [12]. Flow cytometric immunophenotyping confirmed a B/myeloid MPAL with blasts brightly positive for CD45, CD34, and CD19, variably positive for CD9, CD38, CD24, and CD15, and subset positive for sCD22, cCD79a, TdT, and MPO. CD10, CD2, CD3, CD5, CD7, and CD8 staining was negative. Cytogenetic analyses demonstrated 65 chromosomes in the leukemic cells. SNP array analysis demonstrated loss of heterozygosity and two copies of chromosomes 3, 4, 5, 7, 9, 13, 15, 16, 17, 20, and X, trisomies of chromosomes 1, 2, 10, 18, and 19, and tetrasomy of chromosomes 6, 8, 11, 12, 14, 21, and 22 (Figures 1 and 2). These results are consistent with doubling of a low hypodiploid clone with 35 chromosomes, with subsequent loss of one copy of chromosomes 1, 2, 10, 18 and 19.

Bottom Line: We describe the case of a 16 year-old female with mixed phenotype acute leukemia B/myeloid, NOS (formerly biphenotypic leukemia) with masked hypodiploidy and somatic TP53 and CDKN2A/B deletions.She achieved morphologic remission with lymphoid-directed multi-agent chemotherapy, but experienced an early medullary relapse 11 months from initial diagnosis.Her case details the unusual finding of hypodiploidy in a patient with ambiguous lineage leukemia and highlights the complexity of therapy selection for these high-risk patients.

View Article: PubMed Central - PubMed

Affiliation: Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

ABSTRACT

We describe the case of a 16 year-old female with mixed phenotype acute leukemia B/myeloid, NOS (formerly biphenotypic leukemia) with masked hypodiploidy and somatic TP53 and CDKN2A/B deletions. She achieved morphologic remission with lymphoid-directed multi-agent chemotherapy, but experienced an early medullary relapse 11 months from initial diagnosis. Her case details the unusual finding of hypodiploidy in a patient with ambiguous lineage leukemia and highlights the complexity of therapy selection for these high-risk patients.

No MeSH data available.


Related in: MedlinePlus