Roug A S, Wendtland P, Bendix K, Kjeldsen E
Section of Flow Cytometry, The Hemodiagnostic Laboratory, Aarhus University Hospital, Aarhus, Denmark.
Cytogenet Genome Res. 2014;142(1):7-13. doi: 10.1159/000355985. Epub 2013 Nov 8.
Burkitt lymphoma (BL) is an aggressive mature B-cell neoplasm. The cytogenetic hallmark are MYC-involving translocations, most frequently as t(8;14)(q24;q32). Additional cytogenetic abnormalities are seen in the majority of cases. The most frequent additional aberration involves the long arm of chromosome 1, either as partial or complete trisomy 1q. A very rare additional aberration is a supernumerary isochromosome 1q, i(1)(q10), resulting in tetrasomy 1q. The biological significance of this aberration is unclear. We present a highly aggressive case of BL in a child with immature B-cell immunophenotype (IP) and supernumerary i(1)(q10). Diagnostic karyotyping showed 47,XY,+i(1)(q10),t(8;14)(q24;q32)[2]/47,idem,del(15)(q24)[21]/46,XY[2]. aCGH analysis detected a gain of 1p12qter and a loss of 15q22q25. FISH analysis confirmed the isodicentric chromosome 1, which has not previously been reported in BL. In the literature, supernumerary i(1)(q10) was found in 11 cases of which >80% presented with immature B-cell IP and >60% relapsed or died. Tetrasomy 1q resulting from supernumerary idic(1)(p12) or i(1)(q10) is a rare genetic event in BL and probably associated with immature B-cell IP. We propose that high amplification of genes on chromosome 1p12qter may contribute to the BL IP and disease progression.
伯基特淋巴瘤（BL）是一种侵袭性成熟B细胞肿瘤。细胞遗传学特征是涉及MYC的易位，最常见的是t(8;14)(q24;q32)。大多数病例还可见其他细胞遗传学异常。最常见的额外畸变涉及1号染色体长臂，表现为1q部分或完全三体。一种非常罕见的额外畸变是多余的等臂染色体1q，即i(1)(q10)，导致1q四体。这种畸变的生物学意义尚不清楚。我们报告了1例具有不成熟B细胞免疫表型（IP）和多余i(1)(q10)的高度侵袭性儿童BL病例。诊断性核型分析显示47,XY,+i(1)(q10),t(8;14)(q24;q32)[2]/47,idem,del(15)(q24)[21]/'46,XY[2]。aCGH分析检测到1p12qter增益和15q22q25缺失。FISH分析证实了等臂双着丝粒染色体1，此前在BL中未见报道。文献中，在11例病例中发现了多余的i(1)(q10)，其中>80%表现为不成熟B细胞IP，>60%复发或死亡。由多余的idic(1)(p12)或i(1)(q10)导致的1q四体是BL中罕见的遗传事件，可能与不成熟B细胞IP相关。我们认为1p12qter上基因的高扩增可能有助于BL的IP和疾病进展。
