t(3;7)(q26;q21)

Review on t(3;7)(q26;q21), with data on clinics, and the genes involved

Bone: Subungual exostosis with t(X;6)(q13;q22)

Review on Bone: Subungual exostosis with t(X;6)(q13;q22), with data on clinics, and the genes involved

SS18L1 (synovial sarcoma translocation gene on chromosome 18-like 1)

Review on SS18L1 (synovial sarcoma translocation gene on chromosome 18-like 1), with data on DNA, on the protein encoded, and where the gene is implicated

Soft tissue tumors: Low grade fibromyxoid sarcoma

Review on Soft tissue tumors: Low grade fibromyxoid sarcoma, with data on clinics, and the genes involved

A NOVEL FUSION 5'AFF3/3'BCL2 ORIGINATED FROM A t(2;18)(Q11.2-Q21.33) TRANSLOCATION IN FOLLICULAR LYMPHOMA

Follicular lymphoma is the second most frequent type of non-Hodgkin's lymphoma in adults. The basic molecular defect consists of the t(14;18)(q32;q21) translocation, juxtaposing the B-cell lymphoma protein 2 gene BCL2 to the immunoglobulin heavy chain locus IGH@, and leading to the antiapoptotic BCL2 protein overproduction. Variations in the t(14;18) are rare and can be classified into two categories: (i) simple variants, involving chromosomes 18 and 2, or 22, in which the fusion partner of BCL2 is the light-chain IGK@ or IGL@; (ii) complex variant translocations occurring among chromosomes 14, 18 and other chromosomes. We report a follicular lymphoma case showing BCL2 overexpression, detected by immunohistochemistry and real-time quantitative PCR, consequently to the formation of a novel fusion gene between the 5' of the lymphoid nuclear transcriptional activator gene AFF3 at 2q11.2, and the 3' of BCL2. This case shows evidence, for the first time, of BCL2 overexpression consequently to the fusion of BCL2 to a non-IG partner locus

Effect of MYC and PARP Inhibitors in Ovarian Cancer Using an In Vitro Model

Figures and Data: https://ar.iiarjournals.org/content/44/5/1817/tab-figures-dataBackground/Aim: The 8q24 chromosomal region, which contains the MYC and PVT1 candidate oncogenes, is amplified in carcinomas. Both genes have been involved in the etiopathogenesis of ovarian cancer (OC). In this study, we used an in vitro OC model with a known 8q24 copy number increase and in silico tools to investigate the expression of MYC/PVT1 loci and copy number variation in OC. We also assessed the effects of rucaparib (a PARP inhibitor) in the presence or absence of 10058F4 (a MYC inhibitor) on the expression of MYC/linear PVT1/circular PVT1. Materials and Methods: Tissue culture, chromosome preparation, RNA extraction, RT-qPCR, FISH, and wound healing assays were employed. OncoDB, cBioportal, UALKAN, and ROC Plotter in silico tools were also utilized. Results: Although PVT1 and MYC expression levels remained unaltered in OC, putative copy number alterations across all cancers showed a marked difference between the two genes, particularly in gain and amplification for MYC. PVT1 expression demonstrated prognostic value for the treatment of patients with serous and endometrioid OC. Both genes correlated with PARP10, FAM83H, and DEPTOR. The use of rucaparib in the presence or absence of the MYC inhibitor (10058F4) in vitro, led to a significant down-regulation in the expression of MYC, linear, and circular PVT1. Conclusion: Our data provide a novel insight into the potential interactions of MYC and PVT1 with other genes. Moreover, we identified a new PARP inhibition mechanism down-regulating MYC, as well as the linear and circular PVT1 transcripts. Future work should expand on clinical studies to better understand the prognostic role of PVT1 in OC.Cancer Treatment & Research Trust (CTRT); Global Thesis Program 2017-2018 (University of Bari Aldo Moro)

The chemokine receptor CCR8 is preferentially expressed in Th2 but not Th1 cells

In this paper we report on the cloning and characterization of mouse CCR8. Like its human homologue, it is predominantly expressed in the thymus. In the periphery, murine CCR8 mRNA was found most abundantly expressed in activated Th2-polarized cells and in NK1.1+ CD4+ T cells. Human CCR8 is also preferentially expressed in human Th2-polarized cells and clones. This pattern of expression suggests that CCR8 is part of a Th2-specific gene expression program. The CCR8 ligands I-309 and its mouse homologue T cell activation gene 3 (TCA-3) are potent chemoattractants for Th2-polarized cells. Taken together, these observations strongly suggest that CCR8 plays a role in the control of Th2 responses, and may represent a potential target for treatment of allergic diseases

MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.

Double minutes (dmin), homogeneously staining regions, and ring chromosomes are vehicles of gene amplification in cancer. The underlying mechanism leading to their formation as well as their structure and function in acute myeloid leukemia (AML) remain mysterious. We combined a range of high-resolution genomic methods to investigate the architecture and expression pattern of amplicons involving chromosome band 8q24 in 23 cases of AML (AML-amp). This revealed that different MYC-dmin architectures can coexist within the same leukemic cell population, indicating a step-wise evolution rather than a single event origin, such as through chromothripsis. This was supported also by the analysis of the chromothripsis criteria, that poorly matched the model in our samples. Furthermore, we found that dmin could evolve toward ring chromosomes stabilized by neocentromeres. Surprisingly, amplified genes (mainly PVT1) frequently participated in fusion transcripts lacking a corresponding DNA template. We also detected a significant overexpression of the circular RNA of PVT1 (circPVT1) in AML-amp cases versus AML with a normal karyotype. Our results show that 8q24 amplicons in AML are surprisingly plastic DNA structures with an unexpected association to novel fusion transcripts and circular RNAs

Solitary neurofibroma of the gingiva with prominent differentiation of Meissner bodies : a case report

<p>Abstract</p> <p>Background</p> <p>Oral neurofibromas are peripheral nerve sheath tumors, similar to schwannomas. Histological variations in oral neurofibromas are relatively uncommon.</p> <p>Case presentation</p> <p>Here, we present a case of unique variation in the observed characteristics of a neurofibroma, with no relation to neurofibromatosis type-1 or von Recklinghausen disease of the skin. The neurofibroma was observed in the right mandibular gingiva of a 32-year-old Japanese woman. Histologically, it differed from conventional neurofibromas in that the tumor was composed of a mixture of fine fibrillary collagen in sheets and/or cords of neoplastic Schwann cells containing numerous clusters of Meissner bodies. Histologically, these bodies were in contact with neoplastic Schwann cells. The Meissner bodies were immunopositive for S-100 protein, neuron-specific enolase, and vimentin, but were negative for calretinin. CD34-positive spindle cells were observed around the Meissner bodies. No recurrence or signs of other tumors have been observed in the patient for 5 years after tumor resection.</p> <p>Conclusion</p> <p>To the best of our knowledge, no formal descriptions of sporadic, solitary neurofibromas containing numerous Meissner bodies occurring in the oral cavity are available in literature. We believe that an uncommon proliferation of Meissner bodies, as seen in the present case, may result from aberrant differentiation of neoplastic Schwann cells.</p

Loss of coral reef growth capacity to track future increases in sea level

Water-depths above coral reefs is predicted to increase due to global sea-level rise (SLR). As ecological degradation inhibits the vertical accretion of coral reefs, it is likely that coastal wave exposure will increase but there currently exists a lack of data in projections concerning local rates of reef growth and local SLR. In this study we have aggregated ecological data of more than 200 tropical western Atlantic and Indian Ocean reefs and calculated their vertical growth which we have then compared with recent and projected rates of SLR across different Representative Concentration Pathway (RCP) scenarios. While many reefs currently show vertical growth that would be sufficient to keep-up with recent historic SLR, future projections under scenario RCP4.5 reveal that without substantial ecological recovery many reefs will not have the capacity to track SLR. Under RCP8.5, we predict that mean water depth will increase by over half a metre by 2100 across the majority of reefs. We found that coral cover strongly predicted whether a reef could track SLR, but that the majority of reefs had coral cover significantly lower than that required to prevent reef submergence. To limit reef submergence, and thus the impacts of waves and storms on adjacent coasts, climate mitigation and local impacts that reduce coral cover (e.g., local pollution and physical damage through development land reclamation) will be necessary