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Kim, Lee, Lee, Hong, Hong, Kang, Cho, and Chang: A Case of del(16)(q22) in a Patient with Acute Myeloid Leukemia with Complex Karyotype
Case Report

Korean J Leg Med 2010;30(4):329-333.

Published online: 14 January 2010

DOI: https://doi.org/10.3343/kjlm.2010.30.4.329

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

Minki Kim, M.D.1, Ji Won Lee, M.D.1, Jin Kyung Lee, M.D.1, Young Jun Hong, M.D.1, Seok-Il Hong, M.D.1, Hye Jin Kang, M.D.2, Eun Hae Cho, M.D.3, Yoon Hwan Chang, M.D.1

1Departments of Laboratory Medicine, Seoul, Korea

2Internal Medicine, Korea Cancer Center Hospital, Seoul, Korea

3Green Cross Reference Laboratory, Yongin, Korea

Corresponding author: Yoon Hwan Chang, M.D. Department of Laboratory Medicine, Korea Cancer Center Hospital, 215-4 Gongneung-dong, Nowon-gu, Seoul 139-706, Korea Tel: +82-2-970-2492, Fax: +82-2-973-7143 E-mail: hicyh@paran.com

      Revised 16 July 200920 May 2010       Accepted 30 July 2010

Copyright © 2010 Korean Society for Legal Medicine

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: AML, Deletion 16, Complex karyotype

REFERENCES

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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).
kjlm-30-329f1.tif
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].
kjlm-30-329f2.tif
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).
kjlm-30-329f3.tif
Table 1.
Reported cases of AML with del(16)(q22)
Reference Age/Sex Diagnosis Eo Karyotype CR
Larson et al., 1986 [4] 78/M CMML→M4 - 46,XY/46,XY, del(16)(q22) -
  63/M CMML→M4 - 46,XY/46,XY, del(16)(q22) -
  19/M AML M5b - 46,XY/46,XY, del(16)(q22) +
Taniwaki et al., 1987 [9] 61/M MDS→M2 NA 44,X,-3,-4,-5,-13,t(Y;12;18)(p11;q12;q12),t(1;5)(q42;q13),t(2;10;17)(p13;p12,p11),+der(3)t(3;13)(p31;q14),+der(4)t(4;5)(p11;q11),t(7;22)(q36;q11),del(16)(q22) -
Ohyashiki et al., 1988 [6] 50/M AML M4 - 46,XY/46,XY, del(16)(q22) +
  55/M CMML→M4 - 46,XY/46,Y,-X,-13,+21,+mar,del(7)(q22),del(16)(q22) -
  55/F CMML→M4 - 46,XX/46,XX,del(16)(q22) -
  63/M MDS→M4 - 46,XY/46,XY,del(16)(q22) -
  65/F AML M4 - 46,XX/45,X,-X,-5,-6,+18,+der(6)t(6;7)(q21;q22),del(7)(q22),del(16)(q22),del(20)(q11) -
  67/M CMML→M4 - 46,XY/47,XY,+8,del(16)(q22) -
Betts et al., 1992 [2] 7/F AML M4 - 46,XX/46,XX,del(16)(q22) /47,XX,del(16)(q22),+21 +
  19/M AML M1 + 46,XY/46,XY, del(16)(q22) -

Abbreviations: Eo, eosinophilia; CR, complete remission; NA, data not available.

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