Korean J Lab Med.  2006 Feb;26(1):64-69. 10.3343/kjlm.2006.26.1.64.

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

• Huh J
• Chung W

• KMID: 2143200
• DOI: http://doi.org/10.3343/kjlm.2006.26.1.64

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.

Keyword

Constitutional chromosomal abnormality; Bone marrow; Hematologic malignancies

MeSH Terms

Aneuploidy
Bone Marrow
Chromosome Aberrations*
Cytogenetic Analysis
Cytogenetics
Down Syndrome
Female
Fibroblasts
Hematologic Neoplasms*
Humans
Incidence*
Lymphocytes
Male
Sex Chromosomes
Skin

Figure

• 

  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).

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