Clinical and cytogenetic features of 29 cases of myelodysplastic syndrome associated with del(20q) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 171-172, 2004.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-328926
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical and cytogenetic features of myelodysplastic syndrome(MDS) associated with del(20q).</p><p><b>METHODS</b>The cytogenetic profiles, clinical manifestations, laboratory data, and transformation in course of disease were analyzed.</p><p><b>RESULTS</b>(1) Of 29 MDS patients with del(20q), eleven (37.9%) had normal karyotype in addition to del(20q) aberration. Among them, nine patients were categorized into refractory anemia(RA)/RA with ringed sideroblasts(RAS) group and two into RA with excess Hasts(RAEB)/RAEB in transformation(RAEB-T) group. The breakpoint in 20q11 was commonly seen in patients with RA/RAS(63.2%), while del(20q12) was predominant in patients with RAEB/RAEB-T(accounting for 70% in all RAEB/RAEB-T patients). It was observed that RAEB/RAEB-T patients had higher frequencies of extra chromosomal aberrations(50%) and complex karyotype(30%) than did the RA/RAS patients (26.3%, 5.3% respectively); (2) Almost all patients revealed prominent pancytopenia, dyserythropoiesis and dysgranulopoiesis and 58.6% patients showed dysmegakaryopoiesis; positive periodic acid schiff staining of nucleated erythrocytes or reduction of neutrophils were found in 62.5% of patients; 81.8% of patients expressed lymphoid antigens; (3) Two cases transformed to acute myeloid leukemia.</p><p><b>CONCLUSION</b>Del(20q) may be an early and primary cytogenetic event in the development of hematologic malignancies. Pancytopenia and dysplasia of bone marrow cells are prominent in patients with MDS associated with del(20q); lymphoid antigen expression is a common occurrence; more additional chromosomal abnormalities and complex karyotypes appear when the disease becomes worse.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndromes Mielodisplásicas
/
Cromossomos Humanos Par 20
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Imunofenotipagem
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Deleção Cromossômica
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Alergia e Imunologia
/
Genética
Limite:
Adolescente
/
Adulto
/
Idoso
/
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2004
Tipo de documento:
Artigo