Lishner M, Confino-Cohen R, Mekori Y A, Feigin M, Manor Y, Goldberg A, Ravid M, Amiel A
Department of Medicine, Meir Hospital, Kfar Saba, Isreal.
J Allergy Clin Immunol. 1996 Jul;98(1):199-204. doi: 10.1016/s0091-6749(96)70243-9.
Systemic mastocytosis is a rare disease characterized by proliferation of mast cells in one or more organs. The origin of the mast cells is still debated, although it has been recently shown that they derive from CD34+ hematopoietic progenitors. Some clinical and in vitro studies have suggested a possible link between myeloproliferative disorders and systemic mast cell disease.
This study was designed to further evaluate the association between systemic mast cell disease and other hematologic disorders by means of conventional cytogenetic analysis and fluorescent in situ hybridization.
We used cytogenetic analysis and fluorescent in situ hybridization with probes to chromosomes 8 and 9 in six patients with systemic mast cell disease.
Fluorescent in situ hybridization helped to identify five patients with trisomy 9 and one with trisomy 8. In contrast, chromosomal analysis demonstrated an abnormal karyotype (45,XO/46,XY) in only one patient.
The association between myeloproliferation disorders and systemic mast cell disease may be explained by the finding that trisomy 9 and trisomy 8 are common in both disorders. A trisomy was detected in all of the patients in our small group compared with nearly 40% of previously reported patients with myeloproliferative disorders. FISH is more sensitive than conventional cytogenetics in detecting these aberrations.
系统性肥大细胞增多症是一种罕见疾病，其特征为一个或多个器官中的肥大细胞增殖。尽管最近已表明肥大细胞源自CD34+造血祖细胞，但其起源仍存在争议。一些临床和体外研究提示骨髓增殖性疾病与系统性肥大细胞病之间可能存在联系。
本研究旨在通过传统细胞遗传学分析和荧光原位杂交进一步评估系统性肥大细胞病与其他血液系统疾病之间的关联。
我们对6例系统性肥大细胞病患者进行了细胞遗传学分析，并使用针对8号和9号染色体的探针进行荧光原位杂交。
荧光原位杂交帮助识别出5例9号染色体三体患者和1例8号染色体三体患者。相比之下，染色体分析仅在1例患者中显示出异常核型（45,XO/46,XY）。
骨髓增殖性疾病与系统性肥大细胞病之间的关联可能由以下发现来解释：9号染色体三体和8号染色体三体在这两种疾病中都很常见。在我们的小样本组中，所有患者均检测到三体，而在先前报道的骨髓增殖性疾病患者中这一比例接近40%。在检测这些畸变方面，荧光原位杂交比传统细胞遗传学更敏感。
