An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.

Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies of the aortic arch. Because the patient had been diagnosed with primary hypoparathyroidism at another hospital, a diagnosis of 22q11.2 DS had been overlooked. A chest X-ray examination revealed widening of the mediastinum caused by a high-positioned right aortic arch, and we subsequently confirmed a diagnosis of 22q11.2 DS using fluorescence in situ hybridization. Because primary hypoparathyroidism is a rare disorder, physicians should be aware of the variable phenotypic features of 22q11.2 DS.

Chronic myelogenous leukemia accompanied by megaloblastic anemia showing atypical clinical features.

Leukocytosis, splenomegaly, and an increased vitamin B(12) level are characteristic findings of chronic myelogenous leukemia in the chronic phase (CML-CP). Here, we report a patient with CML-CP accompanied by megaloblastic anemia. A 61-year-old man consulted our hospital because of anemia and thrombocytopenia. On physical examination, there were no remarkable findings; there was no hepatosplenomegaly. Laboratory findings were: hemoglobin 6.0 g/dl; MCV 113.6 fl; platelet count 100×10(9)/l; white cell count 8.66×10(9)/l; and LDH 1,236 IU/l. Peripheral blood smear demonstrated hypersegmented neutrophils and megalocytes with emergence of myeloblasts, giant metamyelocytes, and nucleated red cells. Vitamin B(12) and folic acid levels were low. Bone marrow examination showed megaloblastic change in the erythroblasts and myeloid hyperplasia. Following vitamin B(12) and folic acid administration, anemia and thrombocytopenia rapidly improved; thereafter, marked leukocytosis became evident. Based on the presence of t(9;22)(q34;q11) on cytogenetic study and a positive result for Major bcr/abl fusion gene, a diagnosis of CML-CP was established. This case illustrates that ineffective erythropoiesis results in anemia and thrombocytopenia in CML with vitamin B12 and/or folic acid deficiency.

EBV(+) B-cell lymphoproliferative disorder associated with subsequent development of Burkitt lymphoma in a patient with idiopathic CD4(+) T-lymphocytopenia.

We report here a case of idiopathic CD4(+) T-lymphocytopenia (ICL) associated with Epstein-Barr virus (EBV)(+) lymphoproliferative disorder (LPD) terminating in Burkitt lymphoma (BL). A 33-year-old Japanese male was admitted to the hospital showing severe CD4(+) lymphocytopenia and neutropenia that was diagnosed as ICL in 1993. Twenty months after the onset of disease, right cervical lymphadenopathy was detected. Biopsy of the specimen showed reactive lymph node hyperplasia and interfollicular B-cell hyperplasia. Ninety-one months later, polypoid tumors were resected from the bilateral nasal cavities and were diagnosed as BL. Immunohistological studies suggested the reactive nature of the initial lymph node biopsy specimen. Polymerase chain reaction (PCR) analyses of immunoglobulin heavy-chain gene (IgH) demonstrated a polyclonal pattern in the initial lymph node lesion. However, the subsequent BL demonstrated a clonal band in the PCR assay for the IgH gene. As demonstrated in human immunodeficiency virus (HIV)-patients, clonal expansion of EBV infected B-cells in the initial lymph node lesion may progress to BL in this patient. The present case did not associate with severe opportunistic infections during the course of disease. EBV(+) BL may be the first manifestation of severe immunodeficiency of the ICL in this patient.

[Treatment outcome of myelodysplastic syndrome patients younger than 60 years old].

We evaluated the clinical outcome of 92 patients younger than 60 years who were treated between January 1987 and May 2003. Low, Int-1, Int-2 and High risk groups categorized by IPSS consisted of 7, 34, 24 and 27 patients, respectively. There was no significant difference in the overall survival between 30 patients who received allogeneic stem cell transplantation and 62 patients who did not. Allogeneic stem cell transplantation provided significantly better outcomes in the Int-2 and the High risk groups. Risk factors for overall survival were age and disease status at transplantation. Acute and chronic GVHD did not influence the relapse free survival rate. Allogeneic stem cell transplantation is a curative therapy for MDS. It is necessary to reduce transplantation related death and to perform stem cell transplantation as soon as possible for patients with Int-2 or High risk of IPSS.

Prevalence and clinical characteristics of myelodysplastic syndrome with bone marrow eosinophilia or basophilia.

By retrospectively analyzing 288 patients with de novo myelodysplastic syndrome (MDS), we sought to determine the prevalence and clinical characteristics of bone marrow eosinophilia and basophilia that were detected at presentation. Bone marrow eosinophilia and basophilia were defined as a differential count of each cell type exceeding 5.0% and 1.0%, respectively. Of 288 patients with MDS, 36 (12.5%) fulfilled this criterion for bone marrow eosinophilia (MDS-Eos); 34 patients (11.8%) showed basophilia (MDS-Bas), and 11 (3.8%) satisfied both criteria (MDS-EosBas). The remaining 229 patients had neither eosinophilia nor basophilia in their bone marrow (MDS(-/-)) at presentation. Cytogenetic analysis was carried out on unstimulated bone marrow cells obtained from 264 patients. When the cytogenetic categorization of the IPSS (International Prognostic Scoring System) for MDS was applied, significantly higher numbers of MDS-Eos and MDS-Bas patients had chromosomal abnormalities carrying intermediate or poor prognosis, compared with the MDS(-/-) patients. Specific chromosomal abnormalities and complex karyotypes were associated with MDS-Eos and/or MDS-Bas. In accordance with these results, the overall survival rate was significantly lower, and the evolution to acute myelogenous leukemia (AML) occurred more frequently in the MDS-Eos and MDS-Bas than in the MDS(-/-) patients. Multivariate analysis demonstrated that bone marrow basophilia was an independent risk factor for evolution to AML. Our study indicates that bone marrow eosinophilia and basophilia in patients with MDS predict a poorer prognosis.