Trisomy 9, As a Sole Chromosomal Aberration in Refractory Anemia with Excess Blasts-II / 대한진단검사의학회지

Refractory anemia with excess blasts (RAEB), the most commom type of myelodysplastic syndrome (MDS), accounts for 40-60% of all patients newly diagnosed with MDS. Various clonal cyto-genetic abnormalities are found in 30 to 50% of the cases. But, trisomy 9 as a sole chromosomal aberration is not common, which was observed in our patient. We report a 65-year-old female with trisomy 9. She was diagnosed with RAEB-II four years ago, and she had no evidence of progression to acute leukemia without therapy.

A case of myelodysplastic syndrome after oral methotrexate overdose / 대한임상병리학회지

Methotrexate is a very potent inhibitor of dihydrofolate reductase and causes bone marrow suppression and megaloblastic anemia. It is widely used in combination with other chemotherapeutic agents in lymphoproliferative disorders. A 63 year old man with ischioneuralgia developed exertional dyspnea and dizziness after he had intentionally taken methotrexate in doses of 5mg per day for 2months. Five months after discontinuation of methotrexate, his bone marrow showed the hypercellular marrow with 90% cellularity, 15% blasts and marked dysgranulopoiesis, suggestive of refractory anemia with excess blasts(RAEB). The hematopoietic cells were not enough aspirated for proper diagnosis in follow up bone marrow after three months. The bone marrow aspirates showed 13% blasts, and marked dysgranulopoiesis. The bone marrow biopsy showed hypercellular marrow with 100% cellularity, but marked fibrosis was developed. The cytogenetic study revealed normal karyotype.

A Clinical Observation of Childhood Myelodysplastic Syndrome / 대한소아혈액종양학회지

BACKGROUND: Childhood myelodysplastic syndrome(MDS) is a heterogenous disease complex which has characteristics of cytopenia in one or more hemopoietic cell lines in peripheral blood and of dysmorphisms of hemopoietic precursors in bone marrow, but quite different from adult one. We experienced 22 patients with childhood myelodysplastic syndrome during 9 years from 1987 to 1995 in the Department of Pediatrics, Inje University College of Medicine, Pusan Paik Hospital, Pusan, Korea and performed a clinical study about them to analyze the clinical and hematological features and treatment outcome retrospectively. METHOD: We analyzed their clinical features including age and sex distribution, chief complaints and physical findings on first admission, distribution of subtypes, hematologic features including initial hemoglobin, total WBC and platelet count, and treatment outcome including leukmic transformation and prognostic scores. RESULTS: 1) Of the total 22 patients, 10 were in 0-4 years of age on first admission, 8 in 5-9, and 4 above 10 years of age. The male : female sex ratio was 2.1 : 1. 2) Of the 22 patients, chief complaints on first admission were bleeding tendency in 9 patients(40.9%), pallor in 8(36.4%) and fever in 3(13.6%), in order, and physical findings on first admission were purpura or ecchymoses in 17(77.3%), anemia in 15(68.2%) and hepatosplenomegaly in 8(36.4%), in order. 3) Hematologic findings on first admission were as follows : hemoglobin levels were below 3 g/dl in 1 patient(4.5%), 3-6 g/dl in 10(45.5%), and 6-9 g/dl in 11(50.0%). Initial WBC counts were below 5,000/mm3 in 13 patients(59.1%), 5,000-10,000/mm3 in 5(22.7%) and above 10,000/mm3 in 4(18.2%). Initial platelet counts were below 20,000/mm3 in 10(45.5%), 20,000-50,000/mm3 in 5(22.7%), 50,000-100,000/mm3 in 5(22.7%) and above 100,000/mm3 in 2(9.1%). 4) Of the 22 patients, 12 patients(54.6%) were RA type, 1(4.6%) RAS, and 3(13.6%) RAEB, RAEB-T and JCML types, respectively. 5) According to prognostic scores by Mufti et al(1986), none were in 'good' group, 17 patients(89.5%) in 'intermediate' group with 39.5 months of mean duration of survival(range 4-95 months) and 2(10.5%) in 'poor' group with 18 months of mean duration of surviral(range 17-19) until the last follow-up. However, the subtypes and clinical status seemed not to be related to the prognostic scores. 6) Sixteen patients were treated with low dose cytosine arabinoside(10 mg/m2/12hrs), of whom 7 patients gained long-standing event-free survival, whose treatment regimen was changed to oral 6-TG about 2 years later. All 3 of JCML were treated with A-Triple-V regimen, one of whom was died of sepsis, one was transformed into AML and died of sepsis, while the remained one gained long-standig event-free survival (62 months). 7) Leukemic transformation into AML occured in 7 patients(RA 1, RAEB 2, RAEB-T 3, JCML 1), 6 of whom were dead, while one gained long-standing event-free survival of 34 months. CONCLUSION: We concluded that RA was the most dominant type among our patients, and the frequency to transform into AML was 31,8%, and 31.9% of the patients had long-term survival, and that reliability of prognostic scoring system by Mufti et al(1986) was not high.

An Unusual Case of Sweet's Syndrome Associated with Myelodysplastic Syndrome / 대한혈액학회지

Sweet's syndrome, initially described in 1964 as acute febrile neutrophilic dermatosis by Sweet, is characterized by five cardinal feature: fever; neutrophilia; abrupt appearance of erythematous, painful, cutaneous plaque, primarily located on the upper extremities, head and neck; a dermal infiltrate of mature neutrophils; and a rapid response to steroid therapy. More than 500 cases of Sweet's syndrome have been documented since original description of Sweet, of which, approximately, 15~20 percent of published cases occurred in patient with hematologic malignancy. The authors describe an unusual case of Sweet's syndrome in a man, who affected with myelodysplastic syndrome (RAEB). A 56-year-old male patient admitted to Yonsei University, Medical Center because of sustained fever and cellulitis of right lower leg. With anemia and thrombocytopenia, the bone marrow study revealed myelodysplastic syndrome (RAEB). On 4th hospital day, with the development of pneumonia, he was treated with mechanical ventilation and broad spectrum of antibiotics. Although the treatment of pneumonia was successful, erythematous nodules, showing Koebner phenomenon and strong positive pathergy reaction, was appeared on the whole body (21st hospital day). Skin biopsy was taken. Under the diagnosis of Sweet's syndrome associated with myelodysplastic syndrome (RAEB), oral prednisolone 60mg/day was prescribed. The cuteneous lesions were regressed, but the brownish pigmentation was remained, till the patient discharged.

A clinical study of myelodysplastic syndrome in children

Myelodysplastic syndrome is a heterogeneous disease complex which is basically a clonal disorder and has characteristics of cytopenia of one or more cell series in peripheral blood and of dyspoiesis of precursors in bone marrow. Since the nature of this disease in childhood is very different from that in adults, retrospective clinical study was performed with 17 confirmed patients who were admitted to the Department of Pediatrics, Seoul National University Children's Hospital from June 1986 till October 1992. The results were as follows: 1) Themost frequent occurrence was found in preschool age group (76.5%), and male predominance was noted. 2) Hepatosplenomegaly was the most frequent clinical finding, and in view of laboratory findings, anemia waas found in all cases, and leukopenia in 5 cases, thrombocytopenia in 13cases were observed. Bone marrow aspiration revealed dyspoiesis of 3 cell series in almost all cases. The percentage of myeloblasts more than 5% of total bone marrow nucleated cells was seen in 8 cases on bone marrow study. 3) Subtypes of the disease were found to be 3 cases of RA, 6 cases of RAEB, 3 cases of RAEB-T, 4 cases of JCML, and 1 case of monosomy 7 syndrome. Chromosomal study was performed in 8 cases, and 6 of them were detected to be abnormal. 4) Supportive management was performed for almost all cases, and combined therapy with prednisolone and one-alpha for 3 cases, combined chemotherapy with various anticancer drugs for 7 cases, and low dose cytarabine therapy (10 mg/m2/12 hr) for 6 cases were performed. 5) There were 3 cases of drop out, 8 cases followed up on not remitted state, 5 cases of death, and 2 cases followed up on complete remission state. Two cases in complete remission were one of RA patients, and one of JCML patients, to whom prednisolone with one-alpha, and combined chemotherapy with A-Triple-V regimen were applied as treatment modalities, respectively. 6) Average duration of follow up for 10 survival cases was 18.2 months and a significant difference of 2 year survival rate was found in between the group composed of RA, RAEB and the other group composed of remained subtypes.