Hematopathology Section, Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892-1500, USA.
Mod Pathol. 2010 Jun;23(6):866-73. doi: 10.1038/modpathol.2010.63. Epub 2010 Mar 19.
Marginal zone lymphomas present rarely in children and young adults as either primary nodal or extranodal disease and have an excellent prognosis. To date, chromosomal aberrations have not been analyzed in the pediatric and young adult population. We undertook a study to analyze genetic alterations in nodal and extranodal marginal zone lymphomas in children and young adults using fluorescence in situ hybridization (FISH) and RT-PCR. These findings were correlated with clinical features at presentation and immunophenotype. Forty-one cases were identified meeting these criteria. The age range was 1.5-29 years old with 49% of the cases <18 years of age. 73% of the marginal zone lymphoma cases showed evidence of light chain restriction by immunohistochemistry or flow cytometry. CD43 was coexpressed in 83%. 85% of the marginal zone lymphoma cases tested showed evidence of immunoglobulin heavy chain gene rearrangement. Fifty-nine percent of the cases were nodal marginal zone lymphomas with a median age at presentation of 16 years and an M/F ratio of 7:1. Twenty-one percent of the nodal marginal zone lymphoma cases contained genetic aberrations. Seventeen percent contained trisomy 18 with one case containing an additional trisomy 3. A translocation of the immunoglobulin heavy chain gene to an unknown partner gene was present in one case. Forty-one percent of the cases were extranodal marginal zone lymphomas with a median age of 24 years and a M/F ratio of 1.4:1. Eighteen percent of the extranodal marginal zone lymphoma cases contained genetic aberrations. The t(14;18) involving the IGH and MALT1 genes was present in one case, tetraploidy was present in one case, and another case contained trisomy 3. Overall the incidence of genetic aberrations in marginal zone lymphomas in the pediatric and young adult population is low, but the aberrations seen are similar to those seen in the adult population.
边缘区淋巴瘤在儿童和青年中很少表现为原发性结内或结外疾病,且预后良好。迄今为止,尚未对儿科和青年人群进行染色体异常分析。我们进行了一项研究,使用荧光原位杂交(FISH)和 RT-PCR 分析儿童和青年结内和结外边缘区淋巴瘤的遗传改变。这些发现与临床表现和免疫表型相关。符合这些标准的病例有 41 例。年龄范围为 1.5-29 岁,49%的病例<18 岁。73%的边缘区淋巴瘤病例通过免疫组化或流式细胞术显示轻链受限的证据。83%的病例共同表达 CD43。85%的边缘区淋巴瘤病例检测到免疫球蛋白重链基因重排的证据。59%的病例为结内边缘区淋巴瘤,中位发病年龄为 16 岁,男女比例为 7:1。21%的结内边缘区淋巴瘤病例存在遗传异常。17%的病例包含 18 三体,其中 1 例还存在额外的 3 三体。一例病例中存在免疫球蛋白重链基因转移至未知伙伴基因。41%的病例为结外边缘区淋巴瘤,中位发病年龄为 24 岁,男女比例为 1.4:1。18%的结外边缘区淋巴瘤病例存在遗传异常。一例病例中存在涉及 IGH 和 MALT1 基因的 t(14;18),一例病例中存在四倍体,另一例病例中存在三体 3。总体而言,儿科和青年人群中边缘区淋巴瘤的遗传异常发生率较低,但所见的异常与成人人群相似。