Berman M, Knospe W H
Cancer Genet Cytogenet. 1987 Apr;25(2):361-5. doi: 10.1016/0165-4608(87)90198-1.
An association between myelofibrosis (MF) and chronic granulocytic leukemia (CGL) has been recognized. MF is usually a sign of a poor prognosis but its relation to other important parameters of CGL is not known. We observed a 54-year-old, white male patient who was well until May 1983 when he began developing gradually increasing right hip and left shoulder pain. Clinical evaluation 3 months later revealed splenomegaly and a white blood count of 126,000 with 29 segmented neutrophils, 22 bands, 7 metamyelocytes, 11 myelocytes, 6 promyelocytes, 5 blasts, 2 eosinophils, 5 basophils, and 3 lymphocytes. Cytogenetic analysis by G-banding technique showed a male karyotype with all 20 bone marrow cells examined positive for the Philadelphia chromosome. The patient was placed on busulfan therapy with good symptomatic improvement, but later suffered severe thrombocytopenia. At the end of October 1983, he was admitted with blast crisis and thrombocytopenia and was initiated on vincristine and cytosine arabinoside therapy. His bone marrow was repeatedly inaspirable and the biopsy was characterized by diffuse fibrosis. Chromosome analysis of 16 spontaneously dividing cells in the blood at this time revealed that 86% of cells had a karyotype of 46,XY,t(9;22)(q34;q11),t(1;3)(p32;p21) with the rest of the cells having only the Ph chromosome. The patient died 4 months later of intracranial hemorrhage. Chromosome #3 involvement has been reported in acute MF and essential thrombocytosis, but no specific cytogenetic abnormalities have been found in MF associated with CGL. It is unclear whether t(1;3) in this case represents a cytogenetic marker of MF or blast transformation, but it is certainly associated with poor prognosis and short survival.
骨髓纤维化（MF）与慢性粒细胞白血病（CGL）之间的关联已得到认可。MF通常是预后不良的标志，但其与CGL其他重要参数的关系尚不清楚。我们观察了一名54岁的白人男性患者，在1983年5月之前他一直状况良好，之后开始逐渐出现右髋部和左肩疼痛加剧。3个月后的临床评估显示脾肿大，白细胞计数为126,000，其中有29个分叶核中性粒细胞、22个杆状核粒细胞、7个晚幼粒细胞、11个中幼粒细胞、6个早幼粒细胞、5个原始细胞、2个嗜酸性粒细胞、5个嗜碱性粒细胞和3个淋巴细胞。采用G显带技术进行的细胞遗传学分析显示，男性核型，所检查的20个骨髓细胞均对费城染色体呈阳性。患者接受白消安治疗，症状有明显改善，但后来出现严重血小板减少症。1983年10月底，他因原始细胞危象和血小板减少症入院，并开始接受长春新碱和阿糖胞苷治疗。他的骨髓多次抽吸失败，活检显示为弥漫性纤维化。此时对血液中16个自发分裂细胞进行的染色体分析显示，86%的细胞核型为46,XY,t(9;22)(q34;q11),t(1;3)(p32;p21)，其余细胞仅具有Ph染色体。患者4个月后死于颅内出血。在急性MF和原发性血小板增多症中曾有3号染色体受累的报道，但在与CGL相关的MF中未发现特定的细胞遗传学异常。尚不清楚该病例中的t(1;3)是代表MF的细胞遗传学标志物还是原始细胞转化，但它肯定与预后不良和生存期短有关。
