Korean J Hematol.  2007 Dec;42(4):428-432. 10.5045/kjh.2007.42.4.428.

A Case of Acute Promyelocytic Leukemia with PML/RARA Translocation Showing Familial t(9;15)(q34;q22)

• Shin SY
• Koo SH
• Kwon KC
• Park JW
• Ko CS
• Jo DY

• KMID: 2252232
• DOI: http://doi.org/10.5045/kjh.2007.42.4.428

Abstract

We report the unusual case of an APL patient with a familial t(9;15)(q34;q22) and acquired t(15;17) (q22;q21). This is unique in that the patient had a constitutional abnormality with the same breakpoints as those observed in the tumor clone from the APL. It is unclear if the breakpoint, 15q22, in the constitutional aberration influenced the induction of the PML/RARA translocation in the APL. If a specific translocation in a patient with leukemia does not go away with clinical improvement, a congenital or familial chromosomal abnormality should be considered. Additional patients with similar findings are needed to understand the pathogenesis of these events.

Keyword

Acute promyelocytic leukemia; Chromosomal translocation; t(9;15); t(15;17); Constitutional chromosomal abnormality

MeSH Terms

Chromosome Aberrations
Clone Cells
Humans
Leukemia
Leukemia, Promyelocytic, Acute*
Translocation, Genetic

Figure

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  Fig. 1 The blasts are filled with coarse azurophilic granules without prominent Auer rods.

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  Fig. 2 G-banded karyotype of bone marrow cells showing 46,XX,t(9;15)(q34;q22),t(15;17)(q22;q21).

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  Fig. 3 In FISH study, 99% cells show fusion signals (white arrow) of PML/RARA (LIS PML/RARA dual color translocation probe;15q22 LSI PML spectrumOrange/17q21.1 LSI RARA spectrumGreen).

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  Fig. 4 After treatment, follow up FISH studies show no fusion signal of PML/RARA (LIS PML/RARA dual color translocation probe;15q22 LSI PML spectrumOrange/17q21.1 LSI RARA spectrumGreen).

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  Fig. 5 G- banded karyotype of the patient's mother's peripheral blood showing t(9;15)(q34;q22).

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  Fig. 6 Metaphase FISH study of the patient's peripheral blood shows a PML probes hybridize with q34 of chromosome 9 (LIS PML/RARA dual color translocation probe; 15q22 LSI PML spectrumOrange/17q21.1 LSI RARA spectrumGreen).

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