Korean J Lab Med.  2009 Dec;29(6):510-514. 10.3343/kjlm.2009.29.6.510.

Near-tetraploidy Acute Myeloid Leukemia with RUNX1-RUNX1T1 Rearrangement Due to Cryptic t(8;21)

• Im M
• Lee JK
• Lee DY
• Hong YJ
• Hong SI
• Kang HJ
• Chang YH

• KMID: 1781603
• DOI: http://doi.org/10.3343/kjlm.2009.29.6.510

Abstract

Tetraploidy or near-tetraploidy is a rare cytogenetic abnormality found in AML, and is divided into primary and secondary forms. The secondary tetraploidy or near-tetraploidy found in AML is known to be specifically associated with t(8;21). In this case report, FISH analysis detected RUNX1-RUNX1T1 gene rearrangement in the absence of cytogenetic abnormality of t(8;21), which suggests the presence of unvailed t(8;21). This is the first case report of tetraploidy or near-tetraploidy AML with cryptic RUNX1/RUNX1T1 in Korea. Although the prognosis of tetraploidy or near- tetraploidy with t(8;21) is known to be poor, this patient shows a relatively good clinical course compared to other reported cases.

Keyword

Tetraploidy; Near-tetraploidy; AML; RUNX1-RUNX1T1; Cryptic t(8;21)

MeSH Terms

Adult
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 8
Core Binding Factor Alpha 2 Subunit/*genetics
Female
Gene Rearrangement
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Leukemia, Myeloid, Acute/*genetics
*Polyploidy
Proto-Oncogene Proteins/*genetics
Transcription Factors/*genetics
Translocation, Genetic

Figure

• 

  Fig. 1. Smear findings of the acute myeloid leukemia case. (A) Peripheral blood smear shows a large blast with Auer rods in the cytoplasm (Wright-Giemsa stain, ×1,000). (B) Bone marrow aspirate smear shows large blasts with irregular nuclear contours (Wright-Giemsa stain, ×1,000).

• 

  Fig. 2. Two representative karyotypes of the metaphases analyzed in the patient's bone marrow cells at the time of diagnosis. (A) shows 87,X,-X,add(X)(q13)×2,-6,-8,-8,add(10)(p13),-21,add(21)(q22) and (B) represents 45,X,-X,add(X)(q13),-8,add(10)(p13),add(21)(q22).

• 

  Fig. 3. RUNX1-RUNX1T1 gene rearrangement detected by FISH. (A) Result of FISH analysis at the point of diagnosis. Shows an interphase cell with two orange (RUNX1T1) signals, two green (RUNX1) signals, and three fusion signals. (B) Result of FISH analysis two weeks after the diagnosis. An interphase cell has two orange (RUNX1T1) signals, two green (RUNX1) signals, and one fusion (RUNX1/ RUNX1T1) signal.

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