RESUMO
The t(8;14)(q24;q32) translocation or its variants, t(2;8)(p12;q24) and t(8;22)(q24;q32) are classically seen in Burkitt's lymphoma, but are also found in diffuse large cell lymphoma (DLCL). Burkitt's lymphoma is very rare in Korea and t(8;14) or its variants have not been reported. We report a case of DLCL (B-cell type) with t(8;22) and additional chromosomal abnormalities. The patient, 45-year-old male, complained intermittent abdominal pain. The histologic examination of sigmoid colon revealed DLCL. Lymphoma cells were counted about 58.8% of all nucleated cells in bone marrow aspiration and showed surface membrane immunoglobulin positivity. Chromosome study of bone marrow aspiration was done using high resolution banding technique. The karyotype was 47,XY,+1,del(6)(q21),t(8;22)(q24;q11),del(13)(q31),der(14)t(1;14)(q23;q32)?, del(17)(p11) in all of the nineteen metaphases which were analyzed. Although he was treated by chemotherapy and radiotherapy, lymphoma cells were increased in peripheral blood and he expired.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Dor Abdominal , Medula Óssea , Linfoma de Burkitt , Aberrações Cromossômicas , Colo Sigmoide , Tratamento Farmacológico , Imunoglobulinas , Cariótipo , Coreia (Geográfico) , Linfoma , Linfoma Difuso de Grandes Células B , Membranas , Metáfase , RadioterapiaRESUMO
A case of partial hydatidiform mole was admitted with hyperemesis gravidarum, human chorionic gonadotrophine was at high level. Ultrasonographic study showed the empty gestational sac with enlarged placenta which had cystic change in some area. The histologic study showed only hydatidiform mole but chromosome study confirmed classical partial hydatidiform mole which had a triploid (69 XXY) constitution. The clinical findings, ultrasound study and HCG level can emphasize this condition. Histologic and genetic study will confirm the diagnosis.
RESUMO
We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of 18p- syndrome in Korea and brief review of related literature was made.