Journal List > Korean J Lab Med > v.26(1) > 1011365

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

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.

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).
kjlm-26-64f1.tif
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.)
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
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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