Lab Med Online.  2012 Oct;2(4):215-222.

A Case of Acute Myeloid Leukemia with Bone Marrow Basophilia and Dysmegakaryocytic Hyperplasia with Isochromosome 17q as a Sole Cytogenetic Abnormality: A Clinical Study with Literature Review

• Lee HJ
• Kim IS
• Lee SM
• Chang CL
• Lee EY
• Chung JS

Abstract

A new clinico-pathological entity in which isochromosome 17q is the sole abnormality has been reported in myelodysplastic syndrome and in myeloproliferative neoplasm with an aggressive course; In particular, myelodysplastic syndrome with the isolated i(17)(q10) chromosome has the unique features of male sex, severe anemia, dysmegakaryocytic hyperplasia, increased micromegakaryocytes, basophilia, eosinophila and high risk for progression to acute myeloid leukemia (AML). However, the isolated i(17)(q10) is occurring at a relatively low frequency in de novo AML, and only a few reports are available in the literature about the clinical features and molecular characteristics of the isolated i(17)(q10) in AML. Herein, we report both the clinico-pathological features and the results of high resolution single nucleotide polymorphism (SNP) array analysis in a case of AML with i(17)(q10) as the sole cytogenetic abnormality. This case showed marrow findings of basophilia and dysmegakaryocytic hyperplasia and aggressive clinical outcome and these findings were suggestive of the presence of underlying myelodysplastic syndrome. The breakpoint of i(17)(q10) was located within 17p11.2 sub-band, which is known as a genetically highly unstable region presenting a unique genomic architectural features of low copy repeats (LCRs); thus, LCRs within 17p11.2 might lead to genomic instability and facilitate somatic genetic rearrangements such as i(17) (q10) and could play an important pathogenetic role in presenting unique clinico-pathologic features as well as in tumor development and disease progression.

Keyword

Acute myeloid leukemia; Isochromosome 17q; SNP array

MeSH Terms

Anemia
Bone Marrow
Chromosome Aberrations
Cytogenetics
Disease Progression
Genomic Instability
Humans
Hyperplasia
Isochromosomes
Leukemia, Myeloid, Acute
Male
Myelodysplastic Syndromes
Polymorphism, Single Nucleotide
Segmental Duplications, Genomic

Figure

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  Fig. 1 Bone marrow aspiration and biopsy findings. Bone marrow aspiration showing marked proliferation of leukemic blasts (68%) with occasional unusual cytoplasmic basophilc granules, and increase of basophils (10%) indicated by arrows (Wright-Giemsa stain, ×1,000, A and B). Bone marrow biopsy showing hypercellularity with leukemic blasts and dysplastic megakaryocytes including micromegakaryocytes indicated by arrows (H&E, ×200 and ×400, C and D).

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  Fig. 2 Bone marrow biopsy showing scattered positive cells for c-KIT (CD117) and those for tryptase. (A) Immunohistochemical stain, c-KIT (×200). (B) Immunohistochemical stain, tryptase (×400).

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  Fig. 3 Giemsa-banding karyotype analysis revealed 46,XY,i(17)(q10) in 19 out of 20 metaphases examined.

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  Fig. 4 The cytogenetic SNP array analysis revealed that the breakpoint of i(17)(q10) was located within 17p11.2 (chr17: 20,638,927-21,492, 779). Abbreviations: SNP, single nucleotide polymorphism; CN, copy numer; CNV, copy number variation; LOH, loss of heterozygosity.

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