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先天性白血病的细胞遗传学发现:病例报告及文献综述

Cytogenetic findings in congenital leukemia: case report and review of the literature.

作者信息

Abe R, Ryan D, Cecalupo A, Cohen H, Sandberg A A

出版信息

Cancer Genet Cytogenet. 1983 Jun;9(2):139-44. doi: 10.1016/0165-4608(83)90034-1.

Abstract

The cytogenetic findings in a five-week-old female infant with acute lymphoblastic leukemia (ALL) are reported. Markers 11q - and 19 + were observed and considered to be due to an interstitial deletion of segment 11q13 to 11q23 of chromosome #11 and an insertion of this segment into the terminal region of the short arm of #19. Previously published banded cases of leukemic infants under one year of age have been summarized. A review of the data in these 29 cases suggests that the appearance of a normal karyotype in acute leukemia of infants (less than or equal to 1 year old) is much less common than in other categories of acute leukemia. Fourteen out of 29 cases (48%) had chromosomal abnormalities involving 11q. Seven of eight ALL cases had aberrations with a breakpoint at 11q22-23; six cases had t(4;11), one case had a del(11q) and ins(19p), and another had a t(1;22;4). All of three AMMoL cases had translocations involving the long arm of #11. The percentage of patients with t(4;11) and certain translocations involving 11q in infants with ALL or AMMoL, respectively, is higher than that seen in ALL and AMMoL in general. Eleven out of 12 cases (92%) of infant acute leukemias with chromosomal abnormalities involving 11q22-23 were five months old or less.

摘要

报告了一名5周龄急性淋巴细胞白血病(ALL)女婴的细胞遗传学检查结果。观察到标记11q - 和19 +,认为这是由于11号染色体11q13至11q23节段的间质性缺失以及该节段插入19号染色体短臂的末端区域所致。总结了先前发表的1岁以下白血病婴儿的显带病例。对这29例病例数据的回顾表明,婴儿急性白血病(小于或等于1岁)中正常核型的出现比其他类型的急性白血病少见得多。29例中有14例(48%)存在涉及11q的染色体异常。8例ALL病例中有7例具有11q22 - 23断点的畸变;6例有t(4;11),1例有del(11q)和ins(19p),另1例有t(1;22;4)。3例急性单核细胞白血病(AMMoL)病例均有涉及11号染色体长臂的易位。ALL或AMMoL婴儿中分别具有t(4;11)和某些涉及11q的易位的患者百分比高于ALL和AMMoL总体中的百分比。12例涉及11q22 - 23染色体异常的婴儿急性白血病病例中有11例(92%)年龄在5个月及以下。

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