Two Cases of Acute Myeloid Leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG Fusion Transcripts / 대한진단검사의학회지

Many AML-associated chromosomal abnormalities, such as t(8;21), t(15;17), inv(16), t(9;11), t(9;22) and t(6;9) are well known. The chromosomal aberration of t(16;21)(p11;q22) in AML is rare and it is known to be associated with poor prognosis, young age (median age, 22 yr), and involvement of various subtypes of the French-American-British classification. We report here 2 AML patients with t(16;21)(p11;q22), proved by conventional cytogenetics and/or reverse transcription (RT)-PCR. Erythrophagocytosis by leukemic blasts was observed in both of the cases. One patient was a 24 yr-old male with acute myelomonocytic leukemia. His karyotype was 46,XY,t(16;21)(p11;q22),del(18)(p11.2) and RT-PCR revealed the TLS/FUS-ERG fusion transcripts. Although he received allogeneic peripheral blood stem cell transplantation after the first remission, he died 9 months after the initial diagnosis due to relapse of the disease and graft-versus-host disease. The other patient was a 72 yr-old male with acute myeloid leukemia without maturation. His karyotype was 45,XY,-16,add(21)(q22) and the presence of t(16;21)(p11;q22) was detected by RT-PCR. He was transferred to another hospital with no more follow-up. We suggest that the presence of t(16;21)(p11;q22) and/or TLS/FUS-ERG fusion transcripts has to be considered in cases of AML with erythrophagocytosis.

A Case of Fanconi Anemia Diagnosed by a Chromosome Breakage Test with Skin Fibroblasts

Fanconi anemia is an autosomal recessive disease that's characterized by congenital anomalies, defective hematopoiesis and a high risk of developing acute myeloid leukemia and certain solid tumors. The clinical phenotype is extremely variable; therefore, the diagnosis is frequently delayed until the pancytopenia appears. Chromosomal instability, especially on exposure to an alkylating agent, may be seen in affected patients and it is the basis for a diagnostic test. This cellular phenotype can be demonstrated in cultured T cells, B cells, fibroblasts and fetal cells cultured from both amniotic fluid and chorionic villi. But somatic mosaicism may make the diagnosis of Fanconi anemia difficult because of inconclusive chromosome breakage studies. If the test is negative in lymphocytes and yet the clinical setting is highly suspicious, then the skin fibroblasts must be assessed. Because skin fibroblasts are somatic cells, a definitive test can be performed on primary skin fibroblasts. In this report we describe a case of Fanconi anemia that was diagnosed with the use of cultured skin fibroblasts, and this was despite the normal breakage studies in the peripheral blood.

Growth Hormone Treatment in Prader-Willi Syndrome / 대한내분비학회지

BACKGROUND: Prader-Willi syndrome (PWS) is a congenital disorder, which is clinically characterized by a short stature, muscular hypotonia, hypogonadism, mental retardation and hyperphagia, leading to early childhood obesity. Impaired growth hormone (GH) secretion, hypogonadism, and obesity are common in patients with PWS. The purpose of this study was to find the effects of growth hormone treatment in patients with PWS. METHODS: Six patients with PWS confirmed by a genetic study were recruited, and treated with growth hormone(Eutropin(R))(0.8-1 IU/kg/week) divided into five or seven day doses per week for six months. The heights and weights of the subjects were evaluated. GH status were evaluated using the serum insulin-like growth factor (IGF)-I level, the L-dopa test, and insulin-induced hypoglycemia tess. Glucose metabolism was evaluated using the random serum glucose and HbA1c levels. RESULTS: GH was found to be deficient in 2 out of 6 subjects by the insulin test, in 3 out of 6 by the IGF-I level, and in 5 out of in 5 by the L-dopa test. After six months of GH treatment, the height percentile was increased and weight percentile decreased. The serum glucose and HbA1c levels remained unchanged. CONCLUSION: Six months of GH treatment in patients with PWS improved the height and degree of obesity. This study has shown the beneficial effects of GH treatment for patients with PWS, and without significant side effects.

A Case of Splenic Embolization Followed by Splenectomy with Preservation of Accessory Spleen in Gaucher's Disease

Gaucher's disease is an autosomal recessive genetic disorder of lipid metabolism. A deficiency of beta-glucocerebrosidase causes an accumulation of glucocerebroside in the reticulo-endothelial system and bone marrow. Total or partial splenectomy has been used in case of massive splenomegaly with hypersplenism and/or mechanical pressure symtoms. Partial splenectomy is preferred to prevent susceptibility to overwhelming postsplenectomy sepsis and to delay the massive deposition of glucocerebroside in the liver and bones. We report the case of a 20-year-old woman with Gaucher's disease and who had a splenic embolization 4 years ago. The spleen cross the midline of the abdomen reached to the true pelvis and elevated the left diaphragm. Angiotensin-converting enzyme, acid phophatase and ESR were increased but beta-glucocerebrosidase was normal. Osteosclerotic changes of the distal femur was observed. Hepatomegaly and splenomegaly with mutiple accessory spleens were seen on abdominal CT. On isotope scan for liver and spleen, multiple accessory spleens had isotope uptake, but spleen did not. We noted severe adhesion of spleen to neighboring structure and no viable splenic tissue for preservation. Total splenectomy with preservation of four accessory spleens was performed. We needed multiple transfusion during dissection and bleeding was continuous for 3 days postoperatively. The patient was discharged without problems on the postoperative 15 th day.