Reis M D, Sher G D, Lakhani A, Dubé I D, Senn J S, Pinkerton P H
Department of Laboratory Haematology, Sunnybrook Medical Centre, Ontario, Canada.
Cancer Genet Cytogenet. 1992 Jul 1;61(1):93-5. doi: 10.1016/0165-4608(92)90376-j.
A 51-year-old woman with no history of prior chemotherapy or radiation therapy was diagnosed with essential thrombocythemia (ET) according to the diagnostic criteria established by the Polycythemia Vera Study Group (PVSG). Cytogenetic analysis of bone marrow metaphases revealed both normal female karyotype and a single clonal abnormality, 46,XX,del(5)(q22q35). While chromosomal abnormalities have been reported in ET, their incidence is very low, and no specific abnormality has been found. Many of the reported cases of ET with chromosomal aberrations, including 5q-, do not meet the diagnostic criteria proposed by the PVSG, and may represent one of the other myeloproliferative disorders or a myelodysplastic syndrome. Furthermore, it is important to distinguish the 5q- syndrome, which may present with thrombocytosis and megakaryocytic hyperplasia, from ET. Our patient appears to be the first example of untreated ET clearly meeting the PVSG criteria in which 5q- was the only clonal abnormality seen at diagnosis.
一名51岁女性，既往无化疗或放疗史，根据真性红细胞增多症研究组（PVSG）制定的诊断标准被诊断为原发性血小板增多症（ET）。骨髓中期细胞遗传学分析显示为正常女性核型以及一个单一的克隆性异常，即46,XX,del(5)(q22q35)。虽然在ET中已报道有染色体异常，但其发生率很低，且未发现特定异常。许多报道的伴有染色体畸变（包括5q-）的ET病例不符合PVSG提出的诊断标准，可能代表其他骨髓增殖性疾病或骨髓增生异常综合征之一。此外，将可能表现为血小板增多和巨核细胞增生的5q-综合征与ET区分开来很重要。我们的患者似乎是首例未经治疗且明确符合PVSG标准的ET，其在诊断时5q-是唯一可见的克隆性异常。
