Sera and cerebrospinal fluid (CSF) from patients with human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy (HAM) were analyzed by Western blotting, and normal human leukocytes were transformed by co-cultivation with HAM patients' leukocytes. The sera and CSF from all HAM patients formed specific bands with HTLV-1 viral proteins, including p19, p24, p28, p32, p40 and p53. After 2-3 weeks of co-cultivation, scattered foci of cell aggregates were noted on macrophage sheets. Surface markers of the transformed cells were OKT3(+), OKT4(+), OKT8(-), IL-2 receptor(+) and EBNA(-). Chromosome analysis showed a normal karyotype. HTLV-1 viral genome was integrated into DNA isolated from transformed cell lines. Electron microscopy revealed type C virus particles in transformed T-cell lines. These results indicate that peripheral leukocytes from HAM patients can transform HTLV-1-negative leukocytes and HAM patients have the potential to acquire adult T-cell leukemia in the future.
A case of paraneoplastic syndrome accompanied by two types of cancer is reported. The patient was a 62 year old man who progressively developed cerebellar ataxia, especially an abnormal gait. The anti-Hu antibody titre was high. A small tumour was detected in the middle lobe of the right lung and was surgically treated. The histology was adenocarcinoma. After lobectomy, however, the ataxia deteriorated, and plasma exchange, 250 ml/kg/day, was conducted for 6 days. After plasma exchange, the anti-Hu antibody titre decreased and the ataxia temporarily ceased to progress. A week after the last plasma exchange, a mass appeared in the anterior cervical region and rapidly increased in size. The biopsy of the neck tumour disclosed a small cell carcinoma. Five months later small cell carcinoma appeared in the left lung. This case shows the importance of searching for small cell carcinoma when anti-Hu antibodies are detected. It is assumed that plasma exchange removed not only a pathogenic factor of ataxia but also a factor which inhibited the growth of the small cell carcinoma. It is reccomended that plasmapheresis should be performed with caution in paraneoplastic syndrome when the origin of a tumour is obscure.
Twelve patients with abnormal karyotypes out of 18 patients with adult T-cell leukemia died within 5 months on average after initial diagnosis; in contrast, three patients with normal karyotypes are still alive without having received any cancer chemotherapy at 12 to 21 months after diagnosis. The significance of the chromosome abnormality is discussed.
A specific chromosome translocation, t(8q-; 14q+), was observed in a 43-year-old female with non-African Burkitt's lymphoma in which leukemic conversion had occurred. The chromosome studies used cells from ascites. The ascites was apparently the result of a primary tumor involving the ovaries and contained 68% of lymphoma cells. The frequent occurrence of abnormalities related to chromosomes 1, 8 and 14 in African and non-African Burkitt's lymphomas was emphasized.
Analysis of the chromosomes of a cloned human hepato-blastoma cell line, HUH-6-clone 5 by Q-, G- and C-banding revealed numerical and structural chromosome aberrations. The modal number of chromosomes was 49. Trisomies #12 and 20 were present in most of the cells, and 8q isochromosome was detected in all of the cells analyzed. High levels of alpha-fetoprotein production by this cell strain were also demonstrated.
A recent contribution by Puvabanditsin et al. in Genetic Counseling described a female with distal short arm of chromosome partial monosomy 5pl5.33 and partial trisomy of the distal short arm of chromosome 3p24.3 and reviewed the literature (8). To date, only two case reports have described a similar unbalanced translocation with trisomy 3p and monosomy 5p, except that Puvabanditsin reported this time (1, 2). We have just encountered another 4th case with partial trisomy 3p and partial monosomy 5p diagnosed by spectral karyotyping (SKY).The female was bom by Cesarean section because of intrauterine growth retardation. She was delivered at 36 weeks gestational age at a birth weight of 1980g. Her Apgar score was both 3 points at 1-minute and 6 points at 5-minutes. She was admitted neonatal intensive care units (NICU). Chromosomal analysis was performed at birth because of the patient's characteristic facial features with microcephaly, micrognathia, hypertelorism, epicanthal fold, high-arched palate of mouth. She also had both cat-like crying and a severe congenital heart disease with atrial septal defect, ventricular septal defect and patent ductus arteriosus. Since severe heart failure advanced, she respired artificial ventilation therapy on the 1st day of after the birth. Although the operation with ligation of patent ductus arteriosus was conducted on the 2nd day, also after that, pulmonary hypertension continued. Her chromosomal karyotype is 46,XX,der(5)t(3;5)(p23;P 13.3), and diagnosed as associated with 5p partial monosomy and 3P partial trisomy (Figs 1, 2). SKY analysis was performed in order to perform genetic counseling to parents (Fig. 3). Since heart failure and swallowing were difficult, oral nursing was impossible and was taken as tube feeding. The child discharged NICU with home oxygen therapy in four months of her age. However, after that, aspiration pneumonia was repeated and hospitalization management was required frequently. At 6 years of her age, she could turn over only one side and could not sit. There was no significant word at the age of seven. She died of heart failure at 7 years-old four months.To the best of our knowledge, our case is the 4th to describe a patient with partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 3. SKY is a technique for chromosome analysis based on the approach of the fluorescence in situ hybridization technique, using painting each of the 24 human chromosomes with different colors (4). In case with the structural abnormality of a chromosome of unknown origin is detected via G-banding, an evaluation of the SKY results is made based on the colors that are displayed, so it is easy for a physician to explain the results to the parents of a patient in genetic counseling (5).Puvabanditsin etal. reported monosomy 5p with partial trisomy 3p, the case had absence of major dysmorphic craniofacial features and catlike cry characteristic of the cri-du-chat syndrome (8). …
Chromosome analysis was performed on cells from a patient of null cell lymphoma, well-differentiated type. A 14q12 translocation was observed in all the banded cells. In addition, there were multiple chromosome abnormalities. This case will be useful in considering the significance of the 14q1(1-3) translocation in malignant lymphoma disease.