[Chromosomal structural changes in patients with myelodysplastic syndrome].
OBJECTIVE
To study the clinical and laboratory features of myelodysplastic syndromes (MDS) with chromosomal structural changes.


METHODS
Among 584 MDS cases with cytogenetic data, 50 patients with chromosomal structural changes, 34 males and 16 females, aged 50.5 (9 approximately 77), were reclassified according to the WHO criteria, and their clinical and laboratory features were analyzed retrospectively.


RESULTS
The incidence of chromosomal structural changes in the MDS patients was 7.4%. i (17) (q10), t (1; 3) (p36; q21), der (1; 7) (q10; p10), and der (22) occurred frequently. The chromosomal structural changes in 13 cases were reported in the literatures for the first time. The patients with i (17) (q10) were characterized by moderate to severe anemia and a poor prognosis. Predominant dysgranulocytopoiesis and dysmegakaryocytopoiesis, including a nuclear shift to the left, pseudo-Pelger-Hüet anomaly, hypogranularity, and increased micromegakaryocytes. The patients with t (1; 3) (p36; q21) revealed macrocytic anemia, obvious dysmegakaryocytopoiesis, and dysgranulocytopoiesis, accompanied by defective differentiation and monocytosis. The bone marrow cells from the MDS patients with t (1; 3) (p36; q21) mainly or only expressed MEL1. The initial symptom of the patients with der (1; 7) (q10; p10) was infection. These patients showed macrocytic or normocytic anemia. Trilineage dysplasia was found in the bone marrow smears. The patients had short median survival. The patients with der (22) revealed anemia, and normal or elevated platelet counts. Hypogranularity and pseudo-Pelger-Hüet anomaly were present in all cases with der (22). The megakaryocytes were small and generally contained one or two nuclei. A translocation involvement of 22q11 was frequently found in the patients with der (22).


CONCLUSIONS
MDS patients with i (17) (q10), t (1; 3) (p36; q21), and der (1; 7) (q10; p10) may be a new unique clinical-pathologic subsets. Whether the MDS patients with der (22) can be considered as a new unique subject remains to be confirmed by future studies.
Yu
Yang
Y
Institute of Hematology, State Key Laboratory of Experiment Hematology, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
Liu
Xu-ping
XP
Liu
Shi-he
SH
Yu
Ming-hua
MH
Zhang
Yue
Y
Xiao
Zhi-jian
ZJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002869:Chromosome Aberrations; D022004:Chromosome Structures / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D011379:Prognosis; D012189:Retrospective Studies