Korean J Hematol.  2007 Dec;42(4):397-403. 10.5045/kjh.2007.42.4.397.

Two Cases of Acute Leukemic Transformation with a Chromosome 17 Abnormality and p53 Overexpression Evolving from Essential Thrombocythemia

• Cho YU
• Chi HS
• Jang S
• Park CJ
• Seo EJ
• Lee JH

• KMID: 2252226
• DOI: http://doi.org/10.5045/kjh.2007.42.4.397

Abstract

Essential thrombocythemia (ET) is a clonalmyeloproliferative disorder that can rarely transform into acute leukemia in 1~5% of cases. A recent study has found that a significant proportion of leukemic cases from ET were associated with a cytogenetic abnormality (17p deletion). Herein, we report two cases of acute myeloid leukemic transformations harboring a 17p abnormality from a series of 119 ET patients. The first case, a 48-year-old female, developed acute myeloid leukemia with maturation (AML-M2) accompanying myelodysplasia was diagnosed 6.1 years after the initial diagnosis of ET. She was treated with hydroxyurea. Her karyotype showed a monosomy 17. The second case, a 61-year-old male, developed acute megakaryoblastic leukemia (AML-M7) with a very complex hyperdiploidy including addition of 17p13 that developed 6.5 years after the initial diagnosis. He was treated with hydroxyurea and anagrelide. The immunohistochemistry showed p53 overexpression in both cases. Our cases support the specificity of chromosome 17 abnormality and p53 overexpression in acute leukemic transformation from ET.

Keyword

Essential thrombocythemia; Acute leukemic transformation; Chromosome 17; p53 overexpression

MeSH Terms

Chromosome Aberrations
Chromosomes, Human, Pair 17*
Diagnosis
Female
Humans
Hydroxyurea
Immunohistochemistry
Karyotype
Leukemia
Leukemia, Megakaryoblastic, Acute
Leukemia, Myeloid, Acute
Male
Middle Aged
Monosomy
Sensitivity and Specificity
Thrombocythemia, Essential*
Hydroxyurea

Figure

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  Fig. 1 (A) Peripheral blood smear of case 1 shows a pseudo-Pelger Huet anomaly in neutrophil, a blast, and numerous hypogranular platelets (Wright-Giemsa stain, ×1,000). (B) Bone marrow aspiration of case 1 shows dysgranulocytic changes such as pseudo-Pelger Huet anomaly, hypogranularity and bizarre nuclei and proliferation of blasts (Wright-Giemsa stain, ×1,000).

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  Fig. 2 (A) Leukemic cells reveal overexpression of p53 on the biopsy section in case 1 (Immunohistochemistry for p53, ×400). (B) Leukemic cells reveal overexpression of p53 on the biopsy section in case 2. Note the demarcation between leukemic area and hemopoietic area (Immunohistochemistry for p53, ×400).

• 

  Fig. 3 (A) Peripheral blood smear of case 2 shows a blast (left). Bone marrow aspiration also shows a blast with cytoplasmic pseudopod formation (right) (Wright-Giemsa stain, ×1,000). (B) Bone marrow aspiration of case 2 shows positive reaction to acid phosphatase (left), and positive to alpha naphthyl acetate esterase (right) (Acid phosphatase stain and alpha naphthyl acetate esterase stain, respectively, ×1,000).

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  Fig. 4 (A) Bone marrow biopsy of case 2 shows diffuse infiltration of leukemic cells (left). Marked megakaryocytic hyperplasia is noted in hemopoietic area (right upper) and diffuse extensive fibrosis in fibrotic area (right lower) (H&E stain, ×400). (B) Leukemic cells reveal positive reaction to LCA (left), and negative reaction to MPO (right). (Immunohistochemistry for LCA and anti-MPO, respectively, ×400). (C) Megakaryocytes show positive reaction to CD61 but granulocytic cells reveal negative reaction in case 2 (left). Arrows indicate that leukemic cells are positive for CD61 in case 2 (right) (Immunohistochemistry for CD61, ×400).

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