A novel PAX5 rearrangement in TCF3-PBX1 acute lymphoblastic leukemia: a case report.

BACKGROUND: Chromosome translocations are a hallmark of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Additional genomic aberrations are also crucial in both BCP-ALL leukemogenesis and treatment management. Herein, we report the phenotypic and molecular cytogenetic characterization of an extremely rare case of BCP-ALL harboring two concomitant leukemia-associated chromosome translocations: t(1;19)(q23;q13.3) and t(9;17)(p13;q11.2). Of note, we described a new rearrangement between exon 6 of PAX5 and a 17q11.2 region, where intron 3 of SPECC1 is located. This rearrangement seems to disrupt PAX5 similarly to a PAX5 deletion. Furthermore, a distinct karyotype between diagnosis and relapse samples was observed, disclosing a complex clonal evolution during leukemia progression. CASE PRESENTATION: A 16-year-old boy was admitted febrile with abdominal and joint pain. At clinical investigation, he presented with anemia, splenomegaly, low white blood cell count and 92% lymphoblast. He was diagnosed with pre-B ALL and treated according to high risk GBTLI-ALL2009. Twelve months after complete remission, he developed a relapse in consequence of a high central nervous system and bone marrow infiltration, and unfortunately died. CONCLUSIONS: To our knowledge, this is the first report of a rearrangement between PAX5 and SPECC1. The presence of TCF3-PBX1 and PAX5-rearrangement at diagnosis and relapse indicates that both might have participated in the malignant transformation disease maintenance and dismal outcome

A Rationale for Schistosomiasis Control in Elementary Schools of the Rainforest Zone of Pernambuco, Brazil

In 2001, a World Health Assembly resolution urged member states to ensure treatment against schistosomiasis and soil-transmitted helminthiasis in endemic areas with the goal of attaining a minimum target of at least 75% of all school-aged children by 2010. In the highly endemic Rainforest Zone of Pernambuco (ZMP), northeast Brazil, the Schistosomiasis Control Program has registered a cumulative coverage of only 20% of the population at risk, which jeopardizes the accomplishment of the minimum target for that area. Demographic and parasitological data from a representative municipality of the ZMP provide evidence that the current, community-based approach to control can be complemented with school-based actions. In the most troubled municipalities, individual diagnosis and treatment could be focused on school-aged children rather than whole populations without compromising the principles of the primary health care system. Local health and education teams should be encouraged to include school-based interventions to scale up coverage and achieve a rapid impact on infection

IKZF1 Deletions with COBL Breakpoints Are Not Driven by RAG-Mediated Recombination Events in Acute Lymphoblastic Leukemia

IKZF1 deletion (ΔIKZF1) is an important predictor of relapse in both childhood and adult B-cell precursor acute lymphoblastic leukemia (B-ALL). Previously, we revealed that COBL is a hotspot for breakpoints in leukemia and could promote IKZF1 deletions. Through an international collaboration, we provide a detailed genetic and clinical picture of B-ALL with COBL rearrangements (COBL-r). Patients with B-ALL and IKZF1 deletion (n = 133) were included. IKZF1 ∆1-8 were associated with large alterations within chromosome 7: monosomy 7 (18%), isochromosome 7q (10%), 7p loss (19%), and interstitial deletions (53%). The latter included COBL-r, which were found in 12% of the IKZF1 ∆1-8 cohort. Patients with COBL-r are mostly classified as intermediate cytogenetic risk and frequently harbor ETV6, PAX5, CDKN2A/B deletions. Overall, 56% of breakpoints were located within COBL intron 5. Cryptic recombination signal sequence motifs were broadly distributed within the sequence of COBL, and no enrichment for the breakpoint cluster region was found. In summary, a diverse spectrum of alterations characterizes ΔIKZF1 and they also include deletion breakpoints within COBL. We confirmed that COBL is a hotspot associated with ΔIKZF1, but these rearrangements are not driven by RAG-mediated recombination

Infochemical-tritrophic Interactions of Soybean Aphids-host Plants-natural Enemies and Their Practical Applications in Pest Management

The soybean aphid, Aphis glycines Matsumura, is a newly invasive insect species that seriously threatens U.S. soybean production. This aphid pest has kept haunting many soybean growers by developing large colonies on soybeans in North America since 2000. Since its first appearance inWisconsin, it has spread to over half of US states and southern provinces in Canada. The heavy infestation of this pest whittles soybean growers’ profits and causes hundreds of million dollar losses. The present chapter will mainly describe efforts in studying aphid chemical ecology and sensory physiology for understanding how male aphids find their mates and host plants. It will also cover research efforts to understand host plant associated volatiles being used as cues for overwintering host plant location. In addition, findings on how soybean plant defensive system works against aphid infestation, as well as how those induced plant volatiles are used by aphid’s natural enemies for prey location will be presented. Finally, the use the basic understandings for developing useful tools for soybean aphid practical control will be discussed