P. Kumari, M. Mangalagowri, Kavitha Bl, C. ObulaReddy, S. Shanthala, M. Mahadavaprasad, Madhumathi Ds, Govinda Bk
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引用次数: 0
摘要
ider(22)t(9;22)(q34;q11)是一种罕见的Ph染色体阳性慢性髓性白血病继发性核型异常,在大多数先前报道的病例中,与疾病进展、临床预后差和生存期短有关。本例CML伴idic der(22)t(9;22)(q34;q11)或idic der Ph, BCR-ABL杂交转录比为97%,显示复杂核型:48,XY,+8,t(9;22)(q34;q11)i dic(22)(q11),+idic der(22)t(9;22)(q34;q11)。伊马替尼组初始转录率分别降至12.125%、0.932%,后升高至93%。患者在治疗一年后出现睾丸髓外髓样细胞瘤,随后检测到T3151突变。在这种情况下,细胞遗传学提供了比其他标志物更早阶段疾病进展的证据。
A Rare Presentation of ph Chromosome: idic der (22q11) in Blast Crisis Chronic Myeloid Leukemia
The ider(22)t(9;22)(q34;q11) is a rare secondary karyotypic abnormality of Ph chromosome positive chronic myeloid leukemia associated with disease progression, poor clinical outcome and short survival in most of the previously reported cases. The present case of CML with idic der(22)t(9;22)(q34;q11) or idic der Ph with hybrid transcript ratio of BCR-ABL being 97% showed a complex karyotype: 48,XY,+8,t(9;22)(q34;q11)i dic(22)(q11),+idic der(22)t(9;22)(q34;q11). On treatment with Imatinib the initial transcript ratio was reduced to 12.125%, 0.932% but later increased to 93%. The patient developed extra medullary myeloid cell tumor of testis after a year of treatment followed by the detection of T3151 mutation. Cytogenetics provides an evidence for progression of disease at an earlier phase than other markers in this case.