Myeloproliferative syndrome of monosomy 7: a brief report

We report the case of a five-month-old black male infant who had recurrent episodes of respiratory infections and also presented anemia and enlargements of the spleen, liver and lymphnodes. Hematological analysis revealed morphological abnormalities with megaloblastic dyserythropoiesis, while fetal hemoglobin assaying showed normal levels. Conventional and molecular cytogenetic analysis revealed monosomy of chromosome 7. Despite all therapeutic efforts during allogenic bone marrow transplantation, the child died due to generalized infection. The clinical and genetic distinctions between monosomy 7 syndrome and myelodysplastic disorders in childhood are discussed.

Hematologic and Clinical Features of 3q21q26 Syndrome: Extremely Poor Prognosis and Association with Central Diabetes Insipidus / 대한진단검사의학회지

BACKGROUND: 3q21q26 syndrome includes chromosomal abnormalities of inv(3)(q21q26), t(3;3) (q21;q26), and ins(3;3)(q26;q21q26). It causes hematological diseases by the leukemogenic mechanism that the enhancer of ribophorin I gene in 3q21 induces the transcription of ecotropic viral integration site-1 gene in 3q26. Recently, it has been proposed that the 3q21q26 syndrome may be preceded by diabetes insipidus (DI), particularly when combined with monosomy 7, and is a unique disease entity. METHODS: From May 2001 to June 2006, a total of 5 patients with hematologic malignancy were found to have 3q21q26 syndrome and monosomy 7. Laboratory findings, clinical data, and association with DI were investigated. RESULTS: The rearrangement type of 3q21q26 was inv(3)(q21q26) in four patients and t(3;3)(q21; q26) in one. These patients' French American British types were AML M1, M2, M4 and M7, showing evident dysmegakaryopoiesis. Aberrant antigenic expressions of CD7 and CD56 were observed. The platelet count was relatively high as AML. All the five patients were refractory or in early relapse. Patient 5 was diagnosed with AML M7 20 days after being diagnosed with DI. While DI was well controlled with oral desmopressin, leukemia was refractory to chemotherapy. CONCLUSIONS: This study supports the recent opinion that 3q21q26 syndrome with monosomy 7 combined with DI is a disease of unique characteristics. In the relation between DI and monosomy 7 or 3q21q26 syndrome, there has been no explanation about how acquired abnormality of hematopoietic cells affects production of DDAVP by neurohormonal cells in hypothalamus. The mechanism needs further study, and this research should contribute to the understanding of genetic roles in leukemia appearing in different forms.

Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.

A Case of Myeloid Blast Crisis of Atypical Chronic Myelogenous Leukemia / 대한혈액학회지

Atypical chronic myelogenous leukemia (aCML) has dysplastic as well as proliferative features in most instance and rarely evolves to blast crisis, so it is considered as a distinct clinical entity to classical BCR-ABL (+) CML. We experienced a patient who are diagnosed aCML and transformed to myeloid blast crisis after 17 months. Monosomy 7 and deletion of 12p were found on conventional cytogenetics.

A Case of Monosomy 7 Syndrome Transformed into Acute Myelocytic Leukemia / 대한소아혈액종양학회지

Monosomy 7 syndrome is a rare myeloproliferative disorder of children, and has a clinical presentation similar to JCML. Both syndromes present in children younger than 2 years of age. Pallor, lymphaenopathy, hepatosplenomegaly, recurrent infection, facial rash and petechial bleeding are frequently present. The hematologic picture is characterized by leukocytosis with monocytosis, anemia, thrombocytopenia. It is important to distinguish these two disorders because of their different natural courses. The course of JCML is brief, with most patients dying within 9 months. Patients with monosomy 7 syndrome often present initially with repeated bacterial infections and develop AML after a latent period of 3~6 years. We report a case of monosomy 7 syndrome with typical clinical course in a 3-year-old male patient. The patient experienced a malignant transformation into AML. To our knowledge, this is the first case report of malignant transformation in monosomy 7 syndrome of children in Korea.

A De Novo Unbalanced Translocation t (5;7) (q33;p22) Carrying Partial Trisomy 5q and Partial Monosomy 7p / 대한임상병리학회지

Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly, growth and developmental delay, mild mental retardation, and facial dysmorphism caused by partial 5q trisomy and partial 7p monosomy. The patient has an apparently unbalanced translocation resulting from a rearrangement between chromosomes 5 and 7 (46,XY,der (7)t (5;7) (q33;p22)de novo). Fluorescence in situ hybridization with chromosome 5 and 7 painting probes and a cri-du-chat critical region probe confirmed this chromosome rearrangement. Most cases of partial trisomy 5q33-q35 described to date are due to the unbalanced transmission of a familial translocation. To the best of our knowledge, there are no previous reports of de novo unbalanced translocations of these two chromosome abnormalities together with similar breakpoints.

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.