inv(12)(p11.2q13) in an endometrial polyp

A benign endometrial polyp from a 50-year-old postmenopausal woman has been cytogenetically investigated. A single clonal karyotypic anomaly, inv(12)(p11.2q13), was found in about 30% of cells analyzed after short-term culture. This finding contributes further to the hypothesis that the chromosomal segment 12q13-q14, which is also involved in chromosomal rearrangements in uterine leiomyomas, pleomorphic adenomas of the salivary glands, lipomas, and myxoid liposarcomas, contains a gene or genes that are related to cellular proliferation rather than to malignant transformation.     

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features

We report a case of an unbalanced cryptic telomeric translocation 46,XY,der(17),t(9;17)(q34.3;p13.3) in a boy with dysmorphic features and developmental delay. The proband had intrauterine growth retardation, postnatal short stature, and mild microcephaly. Magnetic resonance imaging showed incomplete myelination, but no evidence of lissencephaly. Cytogenetic analysis of the proband's peripheral blood showed an abnormal 17p. Fluorescence in situ hybridisation (FISH) with a Miller-Dieker cosmid probe did not detect a deletion for that area. Further analysis with a 17p telomere specific probe identified an unbalanced telomeric translocation. The same probe was used to determine the presence of an apparent balanced translocation t(9;17)(q34.3;p13.3) in the mother of the proband. The balanced translocation was confirmed with two cosmids that map distally on 9q34.3. Two phenotypically normal half sibs, a maternal aunt, a maternal uncle, and the maternal grandmother were found to be balanced translocation carriers as well. A subtle translocation carriers as well. A subtle translocation is one mechanism that can produce an abnormal phenotype in a patient who had a normal karyotype at lower band resolution levels.     

A (9;11)(q34;q13) translocation in a hibernoma

The diagnosis of hibernoma has historically been made by histopathologic examination and finding of characteristic brown fat cells with granular multivacuolated cytoplasm. The diagnosis of hibernoma may be complicated, however, because seemingly diagnostic cells could be mistakenly identified as lipoblasts, leading to the erroneous diagnosis of well-differentiated liposarcoma. Cytogenetic alterations in lipomatous tumors are well established and could be used for diagnostic purposes. Previous cytogenetic abnormalities reported in hibernomas have included alteration of 11q13 region. Here, we present a case of a hibernoma with a novel cytogenetic alteration involving a reciprocal translocation between 9q and 11q that was useful in establishing the final diagnosis.     

四例合并继发性der(9)t(9;22)(q34;q11)inv(9)(p22q34)异常的Ph阳性白血病的临床及分子遗传学研究

目的 探讨4例合并继发性der(9)t(9;22)(q34;q11)inv(9)(p22q34)异常的Ph阳性白血病的临床及分子遗传学特征.方法 应用骨髓细胞直接法或短期培养法制备染色体,经R显带进行核型分析.应用BCR/ABL双色双融合探针和9号染色体短臂及长臂涂染探针分别对4例伴有inv(9)(p22q34)的Ph阳性患者标本进行荧光原位杂交(fluorescence in situ hybridization,FISH)和染色体涂染分析.用逆转录PCR检测BCR/ABL融合基因转录本.结果 1例急性髓细胞白血病患者核型中有3种克隆,分别为正常细胞、t(9;22)(q34;q11)异常细胞、同时合并der(9)t(9;22)衍生克隆和Ph以及其它异常,即t(8;12)(q12;p11),der(9) t(9;22)inv(9) (p22q34),der(22)t(9;22)细胞.其余3例慢性粒细胞白血病患者均同时合并Ph和der(9)t(9;22)(q34;q11)inv(9)(p22q34).FISH结果显示,3例有1红1绿两个融合信号、2红2绿1个融合信号、且在中期分裂相中发现1红1绿荧光信号分别位于9号染色体的两端;另1例67.5％的细胞有2红1绿1融合信号,有1绿色信号的缺失即表明BCR基因的缺失.染色体涂抹检测发现4例患者均有9号染色体的倒位.逆转录PCR检测均为b3a2转录本.该继发异常既可发生于Ph阳性CML慢性期或急变期,也可发生于原发性Ph阳性AML.该异常核型可能与预后不良相关.结论 合并继发性der(9)t(9;22)(q34;q11)inv(9)(p22q34)异常的Ph阳性白血病是一种少见但可再现的Ph继发性异常,具有独特的临床和分子遗传学特点.     

Derivative (14)t(11;14)(q13;q32)t(11;14)(p11.2;p11.2): a novel unbalanced variant of the t(11;14)(q13;q32) translocation in mantle cell lymphoma

We report the case of a 62-year-old man who presented with splenomegaly, leukocytosis, anemia, and thrombocytopenia. Examination of the peripheral blood, bone marrow, and spleen revealed involvement by mantle cell lymphoma, with some blastoid features and an atypical phenotype. Spleen and bone marrow classical chromosome analysis followed by fluorescence in situ hybridization revealed a novel and unusual unbalanced variant of the t(11;14)(q13;q32) translocation, resulting in a complex derivative chromosome harboring the IGH/CCND1 fusion gene. This chromosome was designated as der(14)t(11;14)(q13;q32)t(11;14)(p11.1;p11.2).     

46，XX，inv（2）（p25；q31），inv（9）（p11；q13）一例

患者　女,70天。偶尔有吐舌现象来院就诊。面容无特殊,体检正常,实验室检查各项指标正常。外周血细胞染色体检查,其核型为46,XX ,inv( 2 ) ( pter→p2 5∷q3 1→p2 5∷q3 1→qter) ,inv( 9) ( pter→p11∷q13→p11∷q13→qter)。讨论　患者为两条非同源性染色体,同时发生臂间倒位,由于染色体倒位没有遗传物质的增加或减少,所以携带者表型正常。但若倒位时有微小的丢失或重接时有基因的变异以及断裂点发生在功能效应基因上,则可能会发生某些遗传效应。由于该患者太小,其偶尔吐舌现象是否与其染色体倒位有关,有待今后继续观察。46,XX,inv(2)…     

Philadelphia-like translocation t(9;22)(q34;q11) found in a follicular lymphoma involving not BCR and ABL but IGL-mediated rearrangement of an unknown gene on 9q34

In a case of follicular center cell lymphoma (FCCL) without evidence of histologic progression towards a high-grade lymphoma, t(9;22)(q34;q11) was found simultaneously with a t(14;18)(q32;q21) and a t(8;14)(q24;q32). Molecular studies of this case showed BCL2 and MYC rearrangements in addition to the rearrangements of immunoglobulin heavy (IGH) and lambda (IGL) loci. Investigation of the t(9;22) using Southern blot and RT-PCR analysis failed to detect M-bcr or m-bcr rearrangements of BCR. Two-color fluorescence in situ hybridization (FISH) with ABL and BCR probes revealed presence of a “fusion” signal, but its atypical localization [der(9)] and gene order [cen-ABL-BCR-tel] indicated that this translocation differed from the t(9;22) in chronic myeloid leukemia and did not involve either ABL or BCR. In addition, further FISH analysis using 9q34- and 22q11-specific probes localized the breakpoint on chromosome 9 distal to the NOTCH1 gene and the breakpoint on 22q11 in the IGL gene cluster. These results indicate an IGL-mediated rearrangement of an unknown gene at 9q34 that together with BCL2 and MYC might be involved in the lymphomagenesis of the present case of FCCL and perhaps in other cases of non-Hodgkin lymphoma in which t(9;22) is sporadically occurring. Genes Chromosomes Cancer 20:113–119, 1997. © 1997 Wiley-Liss, Inc.     

A five-way complex translocation in a patient with chronic myelocytic leukemia: t(4;18;13;9;22)(q12;q11.2;q14;q34;q11.2)

A 10-year-old boy with chronic myelocytic leukemia was found to have a new complex Philadelphia translocation. All of the bone marrow cells and the peripheral blood cells had a rearrangement of a five-way translocation. t(4;18;13;9;22)(q12;q11.2;q14;q34;q11.2). The patient eventually died in blast crisis 6 years, 9 months later.     

Isodicentric 20q- in two cases of B-cell acute lymphocytic leukemia with the respective t(9;20)(p11;q11.2) and t(9;22)(q34;q11.2)

The cytogenetic anomaly der(20)del(20)(q11.2q13.3)idic(20)(p11), or idic(20q-) in short form, has been reported in 13 cases of myelodysplastic syndrome, one case of chronic myelomonocytic leukemia, and one case of acute myeloid leukemia since 2004. To our knowledge, it has not previously been described in lymphoid diseases. Here we report the cases of two patients with B-cell acute lymphocytic leukemia (ALL) having a novel idic(20q-). One was a 34-year-old man with B-cell ALL whose leukemic cells at presentation had a karyotype of 45,XY,dic(9;20)(p11;q11.2); at relapse, a small marker chromosome was found coexisting with the dic(9;20). The other was a 39-year-old woman with Ph-positive B-cell-ALL whose leukemic cells contained both t(9;22)(q34;q11.2) and a small marker chromosome. A series of FISH analyses using the appropriate probes revealed the small marker chromosome in both patients to be an idic(20q-), confirming the dic(9;20)(p11;q11.2) in one case and revealing a BCR/ABL fusion gene in the other. One patient achieved complete remission but relapsed; the other did not achieve complete remission. Both patients died with a short survival time, despite receiving intensive chemotherapy. These two cases show that idic(20q-) can appear not only in myeloid diseases but also in lymphoid diseases.     

Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint

The chromosomal translocation (X;18)(p11.2;q11.2) representsthe cytogenetic hallmark of human synovlal sarcomas. Two relatedbut distinct breakpoints within band Xp11.2 were reported previouslyby us and others using breakpoint-spanning YACs in conjunctionwith FISH. Interestingly, we found that the occurrence of thesealternative breakpoints corresponds to the presence of differenthistologic characteristics of the tumors Involved. Here we reportthe isolation, via subcloning of one of our YAC-derived cosmlds,of probes which specifically hybridize to altered restrictionfragments in tumor DNAs as compared to normal controls. By usinga synovial sarcoma-derived der(X) containing somatic cell hybrid,which exhibits the more distal breakpoint, one of these aberrantlyhybridizing fragments could be isolated via preparative gelelectrophoresis. This fragment appears to contain chromosomeX- and 18-derlved sequences, as revealed by both FISH on normalmetaphase spreads and Southern blot analysis of X- and 18-onlysomatic cell hybrids. We conclude that this genomic fragmentis chimaeric in nature and contains the translocation breakpointregion. In addition, our results indicate that, in contrastto our findings on the X chromosome, a single locus on chromosome18 may be Involved in the development of different (sub)typesof synovlal sarcoma.