Korean J Lab Med.  2010 Aug;30(4):329-333. 10.3343/kjlm.2010.30.4.329.

A Case of del(16)(q22) in a Patient with Acute Myeloid Leukemia with Complex Karyotype

• Kim M
• Lee JW
• Lee JK
• Hong YJ
• Hong SI
• Kang HJ
• Cho EH
• Chang YH

• KMID: 1781636
• DOI: http://doi.org/10.3343/kjlm.2010.30.4.329

Abstract

Inversion of chromosome 16 [inv(16)(p13.1q22)] and t(16;16)(p13.1;q22) are associated with acute myelomonocytic leukemia (AMML) with eosinophilia and a favorable prognosis. On the other hand, patients with del(16)(q22) usually present with MDS or chronic myelomonocytic leukemia (CMML), which can evolve to AMML without eosinophilia, and this chromosomal aberration is associated with older age, a complex karyotype, and a poor prognosis. We report a case of AML with del(16)(q22) which showed a complex karyotype, absence of eosinophilia in bone marrow study and a poor response to chemotherapy.

Keyword

AML; Deletion 16; Complex karyotype

MeSH Terms

Antimetabolites, Antineoplastic/therapeutic use
*Chromosome Deletion
*Chromosomes, Human, Pair 16
Cytarabine/therapeutic use
Daunorubicin/therapeutic use
Drug Therapy, Combination
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Leukemia, Myeloid, Acute/diagnosis/drug therapy/*genetics
Male
Middle Aged
Monocyte-Macrophage Precursor Cells/cytology
Prognosis

Figure

• 

  Fig. 1. (A) Peripheral blood smear and (B) bone marrow smear of the patient show immature monocyte precursors: promonocytes have irregular convoluted nuclear configuration and the cytoplasm is obviously granulated with vacuoles (Wright stain, ×1,000).

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  Fig. 2. GTG-banded karyotype of bone marrow cells from the patient shows complex cytogenetic abnormalities including del(16)(q22):43,XY,del(3)(p12p21),der(5;7)(p10;p10),add(9)(q12),-12,del(16)(q22),add(17)(p10),-20,-22,+mar[20].

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  Fig. 3. Interphase FISH of bone marrow aspirates. A cell with normal chromosome 16 shows 2 fusion signals (left) and each of three abnormal cells with del(16)(q22) shows 1 fusion signal (right).

Reference

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