Incidence and Types of Constitutional Chromosomal Abnormalities in Patients with Hematologic Malignancies

Jungwon Huh; Whasoon Chung

doi:10.3343/kjlm.2006.26.1.64

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Huh and Chung: Incidence and Types of Constitutional Chromosomal Abnormalities in Patients with Hematologic Malignancies

Original Article

Korean J Leg Med 2006;26(1):64-69.

Published online: 10 February 2006

DOI: https://doi.org/10.3343/kjlm.2006.26.1.64

Incidence and Types of Constitutional Chromosomal Abnormalities in Patients with Hematologic Malignancies

Jungwon Huh, M.D., Whasoon Chung, M.D.

Department of Laboratory Medicine, Ewha Womans University, College of Medicine, Seoul, Korea

Received 27 October 2005 Revised 25 January 2006 Accepted 25 January 2006

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

Background

It is important to distinguish between the constitutional and acquired chromosomal abnormality in bone marrow of the patients with the hematologic malignancies, since the constitutional chromosomal abnormality will be continuously observed, even though in remission status of the disease. In this study, we investigated the incidence and types of constitutional chromosomal abnormalities in patients with the hematologic malignancies.

Methods

This study included 396 patients with benign hematologic disorders and 634 with hematologic malignancies. The cytogenetic analysis of bone marrow aspirates were performed by direct or/and short term culture (24–48 hours). The constitutional chromosomal abnormality was confirmed by phytohemagglutinin-stimulated 72 hour culture with peripheral blood lymphocytes.

Results

The incidence of constitutional chromosomal abnormalities was 2.8% in patients with benign hematologic disorders and 2.4% in patients with hematologic malignancies. Among the patients with constitutional chromosomal abnormalities and hematologic malignancies, 12 were males and 3 females. Eleven patients had an age greater than 20 years. One patient had trisomy 21, 1 reciprocal translocation, 1 robertsonian translocation, 3 sex chromosome aneuploidy and 9 inv(9). Two patients showed both constitutional and acquired chromosomal abnormalities on the same chromosome. The constitutional chromosomal abnormality was continuously observed in remission status of hematologic malignancies.

Conclusions

The incidence of the constitutional chromosomal abnormalities was low in patients with hematologic malignancies, but the chromosome study with peripheral blood or skin fibroblasts may be necessary for determining accurate cytogenetic response during follow up.

Keywords: Constitutional chromosomal abnormality, Bone marrow, Hematologic malignancies

References

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Fig. 1.

G-banded karyotype of case 2 (A, B) and case 8 (C). (A) Peripheral blood, showing 46, XY, t(2;6)(q37;q23). (B) Bone marrow, showing 46, XY, der(2)t(2;6)(q37;q23)c, der(6)ins(6;2)(p21.3;p13p24)t(2;6)c. (C) Bone marrow, showing 46, XY, der(9)inv(9) (p11q13)ct(9;22)(q34;q11.2), der(22)t(9;22).

Table 1.

Incidence of constitutional chromosomal abnormality in patients with hematologic malignancies

Disorders	% (No.)
Overall	2.4 (15/634)
Acute leukemia	2.7 (6/220)
MDS	3.2 (2/62)
CML	3.9 (3/77)
MPD	0.0 (0/69)
MM	1.4 (1/73)
CLPD	8.3 (1/12)
ML	1.7 (2/121)

Abbreviations: MDS, myelodysplastic syndrome; CML, chronic myelogeneous leukemia; MPD, myeloproliferative disorder; MM, multiple myeloma; CLPD, chronic lymphoproliferative disorder; ML, malignant lymphoma.

Table 2.

Incidence of constitutional chromosomal abnormality according to the types of chromosomal aberrations in 15 patients

Chromosomal aberrations	% (No.)
Chromosomal aberrations	This study	Ref [9]^*	Ref [10]	Ref [11]	Ref [12]	Ref [13]
+21	7 (1)	−	48	11	71	45
Reciprocal translocation	7 (1)	28	2	44	4	13
Robertsonian translocation	7 (1)	10	19	−	17	18
Sex chromosome aneuploidy	20 (3)	44	29	44	8	16
inv(9)	60 (9)	−	0	0	0	7

^* This study excluded patients with trisomy 21 or inv(9).

Abbreviation: Ref, reference.

Table 3.

Characteristics of 15 patients with constitutional chromosomal abnormality

No. case	Age/Sex	Diagnosis	Karyotype
No. case	Age/Sex	Diagnosis	Peripheral blood	Bone marrow
1	1D/M	Acute leukemia	47, XY, +21	47, XY, +21c[20]
2	1M/M	Acute leukemia	46, XY, t(2;6)(q37;q23)	46, XY, der(2)t(2;6)(q37;q23)c, der(6)ins(6;2)(p21.3;p13p24)t(2;6)(q37;q23)c[20]
3	66/F	MM	45, XX, der(13;14)(q10;q10)	45, XX, der(13;14)(q10;q10)c[20]
4	36/M	No BM involvement of ML	47, XXY[88]/48, XXXY[1]/46, XY[11]	47, XXYc[20]
5	47/M	MDS	46, XY (FISH, XYY 2.8%)	47, XYYc[4]/46, XY[20]
		Normocellular (6 Mo)		47, XYYc[2]/46, XY[18]
6	25/M	Known CML	47, XYY	47, XYYc, t(9;22)(q34;q11.2)[17]/47, XYYc[3]
		CR (3 Mo)		47, XYYc[20]
7	24/M	Known CML	46, XY, inv(9)(p11q13)	46, XY, inv(9)(p11q13)c, t(9;22)(q34;q11.2)[20]
		CR (15 Mo)		46, XY, inv(9)(p11q13)c, t(9;22)(q34;q11.2)[4]/46, XY, inv(9) (p11q13)c[16]
8	52/M	CML	Not tested	46, XY, der(9)inv(9)(p11q13)ct(9;22)(q34;q11.2), der(22)t(9;22)[20]
9	30/F	Acute leukemia	46, XX, inv(9)(p11q13)	46, XX, del(7)(q33), t(8;21)(q22;q22), inv(9)(p11q13)c
		CR (2 Mo)		46, XX, inv(9)(p11q13)c[20]
10	25/F	Acute leukemia	46, XX, inv(9)(p11q13)	46, XX, inv(9)(p11q13)c[20]
		CR (1 Mo)		46, XX, inv(9)(p11q13)c[9]
11	3/M	Acute leukemia	46, XY, inv(9)(p11q13)	46, XY, inv(9)(p11q13)c[20]
12	15/M	Acute leukemia	46, XY, inv(9)(p11q13)	46, XY, inv(9)(p11q13)c[20]
		CR (1 Mo)		46, XY, inv(9)(p11q13)c[4]
13	34/M	MDS	46, XY, inv(9)(p11q13)	46, XY, inv(9)(p11q13)c, del(20)(q13.1)[12]
		Persistent (1 yr)		46, XY, inv(9)(p11q13)c, del(20)(q13.1)[25]/47, idem, +8[1]/48, idem, +8, +9[2]
14	52/M	CLPD	46, XY, inv(9)(p11q13)	46, XY, inv(9)(p11q13)c, t(16;17)(p13.3;q21)[16]/46, XY, inv(9) (p11q13)c[4]/
15	52/M	No BM involvement of ML	46, XY, inv(9)(p11q13)	46, XY, inv(9)(p11q13)c[20]

Abbreviations: CR, complete remission; D, days; Mo, months; yr, years; MM, multiple myeloma; ML, malignant lymphoma; MDS, myelodysplastic syndrome; CML, chronic myelogeneous leukemia; CLPD, chronic lymphoproliferative disorder.

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