t (11;18)(q21;q21) chromosome translocation (A1446-M1150) of MALT lymphoma in buccal mucosa

Purpose  

The t(11;18)(q21;q21) chromosome translocation is frequent in gastric MALT lymphoma, but the t(11;18)(q21;q21) chromosome translocation is very rare in other sites of MALT lymphomas. We investigated the possibility that MALT lymphoma occurred in the right buccal mucosa of a 66-year-old Japanese woman who had the t(11;18)(q21;q21) chromosome translocation.     

Twenty-three cases of acute lymphoblastic leukemia with translocation t(4;11)(q21;q23): the implication of additional chromosomal aberrations

The translocation t(4;11)(q21;q23) is one of the most common specific chromosomal aberrations in acute lymphoblastic leukemia (ALL), occurring in 2% of childhood and in 5–6% of adult cases. Especially in adults, the t(4;11) is associated with a poor prognosis. In order to determine the significance of clonal chromosome aberrations that occur in addition to t(4;11), we studied the karyotypes and clinical courses of 23 patients with acute lymphoblastic leukemia and a translocation t(4;11)(q21;q23). Additional clonal chromosome aberrations were found in ten patients. An isochromosome i(7)(q10) and a trisomy 6 were observed most frequently as secondary anomalies. Clonal evolution was detected in four of six patients analyzed at diagnosis as well as at relapse. With treatment carried out according to modern risk-adapted therapy protocols, no difference in outcome was observed between patients with clonal chromosome aberrations in addition to t(4;11) at diagnosis and those without.     

Distinct comparative genomic hybridisation profiles in gastric mucosa-associated lymphoid tissue lymphomas with and without t(11;18)(q21;q21)

t(11;18)(q21;q21) occurs specifically in mucosa-associated lymphoid tissue (MALT) lymphoma and the translocation generates a functional API2-MALT1 fusion product that activates nuclear factor (NF)kappaB. t(11;18) positive lymphomas usually lack the chromosomal aberrations and microsatellite alterations frequently seen in the translocation-negative MALT lymphomas. To further understand their genetic differences, we investigated gastric MALT lymphomas with and without t(11;18) by comparative genomic hybridisation. In general, both chromosomal gains and losses were far more frequent in t(11;18)-negative (median = 3.4 imbalances) than t(11;18)-positive cases (median = 1.6 imbalances), with gains being more frequent than losses. Recurrent chromosomal gains involving whole or major parts of a chromosome were seen for chromosomes 3, 12, 18 and 22 (23%, 19%, 19% and 27% respectively). Discrete recurrent chromosomal gains were found at 9q34 (11/26 = 42%). Bioinformatic analysis of genes mapping to 9q34 revealed potential targets. Among them, TRAF2 and CARD9 are known interaction partners of BCL10, playing a role in NFkappaB activation. Interphase fluorescent in situ hybridisation confirmed genomic gain of the TRAF2, CARD9 and MALT1 loci in 5/6 and 2/2 cases showing chromosomal gains at 9q34 and 18q21 respectively. The results further highlight the genetic difference between MALT lymphomas with and without t(11;18). Moreover, our findings suggest that genomic gain of genes that modulate NFkappaB activation, such as MALT1, TRAF2 and CARD9, may play a role in the pathogenesis of the translocation-negative MALT lymphoma.     

BCL10 nuclear expression and t(11;18)(q21;q21) indicate nonresponsiveness to Helicobacter pylori eradication of Chinese primary gastric MALT lymphoma

The eradication of Helicobacter pylori (H. pylori) with antibiotics induces complete remission in 75% of patients with gastric MALT lymphoma. We investigated the efficacy of H. pylori eradication and assessed the predictive value of BCL10 nuclear expression and t(11;18)(q21;q21) regarding resistance to H. pylori eradication in primary gastric mucosa-associated lymphoid tissue lymphoma (MALT lymphoma) patients from mainland China. Twenty-two gastric MALT cases (Stage I_E) underwent H. pylori eradication with antibiotics, and sequential endoscopic-bioptic follow-ups were performed and assessed with regular morphologic and immunohistochemical examinations. BCL10 nuclear expression and interphase fluorescence in situ hybridization (FISH) for MALT1 and API2/MALT1 were tested. Thirteen out of the 22 cases (59.1%) achieved complete regression (CR) after the eradication of H. pylori. The longest follow-up period in the 22 patients was 68 months, with 12 patients longer than 24 months. For the 13 CR patients, the longest follow-up period after H. pylori eradication was 53 months, with 6 patients longer than 24 months. BCL10 nuclear expression was detected by immunohistochemical staining in 9 cases, including 7 (77.8%) of 9 cases who showed no response (NR) and 2 (15.4%) of 13 patients who achieved CR following eradication therapy (P < 0.05). t(11;18)(q21;q21) was evaluated by interphase FISH in 18 cases including 11 CR and 7 NR patients after H. pylori eradication. t(11;18)(q21;q21) was found in 4 (57.1%) of 7 patients who showed NR following H. pylori eradication, but one in 11 CR patients (P < 0.05). A total of 59.1% of patients with early gastric MALT lymphoma recruited in this study achieved CR after H. pylori eradication. BCL10 nuclear expression and t(11;18)(q21;q21)-positive gastric MALT lymphomas are likely to be related to a failure to respond to H. pylori eradication in Chinese patients. Both G. Dong and C. Liu are treated as co-first authors.     

Acute lymphoblastic leukemia (L3) with t(2;3)(p12;q27), t(14;18)(q32;q21), and t(8;22)(q24;q11)

A 50-year-old woman developed a subcutaneous tumor in the left lower leg. A biopsy led to the diagnosis of lymphoid malignancy. The malignant cells showed a B-cell immunophenotype. Karyotyping of the cells revealed t(14;18) and t(2;3). The patient was treated with chemotherapy, resulting in a transient response. Subsequently, tumor regrowth and bone marrow recurrence developed. Karyotyping of the bone marrow at relapse revealed a t(8;22) in addition to t(14;18) and t(2;3), which led to a diagnosis of acute lymphoblastic leukemia (ALL)-L3 (FAB). Although the patient was treated with several chemotherapy regimens, the disease was refractory to all the treatments. Fluorescence in situ hybridization (FISH) and the nested polymerase chain reaction (PCR) technique demonstrated rearrangements of the c-myc, bcl-2, and bcl-6 genes. ALL-L3 associated with t(14;18) is known to be complicated frequently with cerebrospinal infiltration and extramedullary lesions, and has a poor prognosis. In our case, the presence of the additional t(2;3) may have enhanced this patient's refractoriness to the treatment.     

A novel chromosomal translocation t(3;17)(q29;q11) in a case with polycythemia vera.

We report a novel chromosomal translocation t(3;17)(q29;q11) in a case with polycythemia vera (PV). The present case (38-year-old male) developed the spent phase of PV after a 10 years' clinical course and showed excessive proliferation of myeloid cells in the bone marrow. The karyotype analysis of the bone marrow cells showed chromosomal translocation t(3;17)(q29;q11), and the same aberration was detected in the granulocyte-colony-stimulating-factor-stimulated peripheral blood cells, suggesting the cells with the t(3;17)(q29;q11) showed myeloid differentiation. It is known as well that the retinoic acid receptor gene, which is related with a myeloid disorder, is located in 17q11. Thus, the novel chromosomal translocation could be associated with the pathogenesis of the disorder in this patient.     

Mucosa-associated lymphoid tissue lymphoma of the rectum that regressed spontaneously

We report a case of mucosa-associated lymphoid tissue (MALT) lymphoma of the rectum that regressed spontaneously. A 76-year-old man visited our hospital because of positive faecal occult blood testing. Colonoscopic examination revealed a slightly yellowish protruded lesion with a grooved depression in the lower rectum and two flat elevations in the upper rectum. Microscopic and immunohistological studies led to a diagnosis of MALT lymphoma. As the patient exhibited severe renal dysfunction and angina pectoris, the lesions were left untreated. Three months later, the protruded lesion became flat and the other lesions became unclear. He was followed up closely with endoscopy, but no relapse of these lesions was detected 19 months after the diagnosis.     

t(14;18)(q32;q21)-bearing pleural MALT lymphoma with IgM paraproteinemia: value of detection of specific cytogenetic abnormalities in the differential diagnosis of MALT lymphoma and lymphoplasmacytic lymphoma

A 67-year-old woman presented with a pleural effusion and a tumor in the right pleural wall. Histological examination of thoracoscopic tumor and pleural biopsy specimens showed infiltration by medium sized cells, some of which showed plasmacytoid differentiation. In view of the presence of IgM paraproteinemia and bone marrow involvement by lymphoma cells, the patient was diagnosed tentatively as having lymphoplasmacytic lymphoma (LPL). However, chromosomal analysis of the cells in the pleural fluid detected t(14;18)(q32;q21), while fluorescence in situ hybridization was positive for 11% of the MALT1 split signal. Because of the presence of characteristic genetic abnormalities and notable extranodal involvement, the patient was diagnosed as having MALT lymphoma. She was treated with three courses of cladribine and rituximab, and achieved complete regression of the tumor. In this case the detection of t(14;18)(q32;q21) involving IGH and MALT1 was useful for the differential diagnosis of LPL and MALT lymphoma.     

胃黏膜相关淋巴样组织淋巴瘤染色体易位t(11;18)与BCL10的表达

目的　检测胃黏膜相关淋巴样组织 (MALT)淋巴瘤的染色体易位t(11;18) (q2 1;q2 1)和BCL10蛋白表达的情况。方法　采用RT PCR检测胃MALT淋巴瘤和滤泡性胃炎 (FG)中API2 MLT融合及免疫组化检测BCL10蛋白、Ki 6 7表达情况 ,并结合临床病理进行分析。结果　 14例胃MALT淋巴瘤中有 3例 (2例低恶性 ,1例低～高恶性 )检测到API2 MLT融合 ,8例FG无此融合。BCL10在FG淋巴滤泡生发中心细胞胞质中弱表达 ,在胃MALT淋巴瘤中表达明显增强 ,且 4 2 .5 %的病例细胞核阳性。胃低～高恶性及弥漫大细胞淋巴瘤 (DLBCL)的Ki 6 7标记率显著强于低恶性MALT淋巴瘤 (P<0 .0 5 )。BCL10核表达与Ki 6 7阳性表达之间差异无显著性 (P >0 .0 5 ) ,但随Ki 6 7表达增强 ,BCL10核表达的概率增加。结论　API2 MLT融合和BCL10核表达可能与胃MALT淋巴瘤从低恶性向高恶性转化有关。RT PCR检测API2 MLT融合是检测t(11;18) (q2 1;q2 1)的一项重要工具