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.

3q Chromosomal Abnormalities Associated with Dysmegakaryopoiesis in Acute Leukemias / 대한임상병리학회지

BACKGROUND: Abnormalities of chromosome 3q21-26 in patients with hematologic malignancies have been suggested to be associated with normal or elevated platelet counts and abnormal megakaryopoiesis. However, the relationship and pathogenic mechanisms are not yet clear. Therefore, we have attempted to clarify the relation of the chromosome 3q abnormalities with dysmegakaryopoiesis in 23 leukemia patients. METHODS: We reviewed retrospectively bone marrow studies, cytogenetic analyses and clinical records of 229 patients with leukemia (AML, ALL or CML in blastic crisis) between 1995 and 1999 with the emphasis on thrombocytopenia, chromosome 3q abnormalities, and dysmegakaryopoiesis in bone marrow. RESULTS: Among 229 leukemia patients, 9 patients (3.9%) had chromosome 3q abnormalities, 11 (4.8%) had dysmegakaryopoiesis and 13 (5.7%) showed normal to increased platelet counts. The platelet count of 9 patients with chromosome 3q abnormalities ranged from 7x109/L to 1623x109/L and 6 of them had decreased numbers of platelets and megakaryocytes, and two patients had dysmegakaryopoiesis. Among them, three patients had an increased number of megakaryocytes with dysmegakaryopoiesis and showed t (2; 3)(q31; q25) or inv (3)(q21q26). They showed a good response to standard chemotherapy. 8 of 10 patients, but neither thrombocytopenia nor chromosome 3q abnormalities, had normal or an increased number of megakaryocytes. CONCLUSIONS: No major prognostic influence was found due to the presence of large numbers of dysplastic megakaryocytes and normal to increased platelet counts in acute leukemia and seemingly were not uniquely associated with changes involving chromosome 3q and abnormalities of 3q21 and 3q26 associated with dysplastic megakaryocytes.