Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder

Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation, which leads to overexpression of the cyclin D1 (CCND1) gene. This translocation is observed in almost all cases of MCL. In this alteration, the involvement of immunoglobulin heavy chain (IGH) locus plays a key role in the activation of the CCND1 oncogene. Translocations affecting IGH loci are mostly prevalent in B-cell lymphomas, but variant translocations involving immunoglobulin kappa (IGK) or lambda (IGL) light chain loci have been observed in a minority of B-lymphoid malignancies. Variant translocations have been reported in only a few cases of MCL, however. This report presents a case of MCL with a variant t(2;11)(p11.2;q13), rearrangement of the CCND1 gene, and overexpression of cyclin D1. To characterize this rearrangement, specific noncommercial probes were used. This set of probes comprises IGK and REL flanking probes and 12 bacterial artificial chromosome (BAC) probes covering the region to be investigated. The results indicated that this alteration has not affected the IGK locus, and the breakpoint was within a 260-kb region located approximately 1 Mb telomerically to the IGK gene. It is probable that the KV3J gene localized in this region could deregulate the expression of cyclin D1.     

Longitudinal morphological change of acetabular subchondral bone cyst after total hip arthroplasty in developmental dysplasia of the hip

Purpose

The purpose of this study is to clarify morphological changes of acetabular subchondral bone cyst after total hip arthroplasty for osteoarthritis secondary to developmental dysplasia of the hip.

Methods

Two hundred and sixty-one primary cementless total hip arthroplasties of 208 patients, 18 males, 190 females, were retrospectively reviewed. Morphological changes of subchondral bone cyst were evaluated by computed tomography (CT). The mean cross-sectional area of the cyst from CT scans at 3 months postoperatively and after 7–10 years (average 8.4 years) were compared.

Results

Acetabular subchondral bone cysts were found in 49.0% of all cases in preoperative CT scans. There was no cyst which was newly recognized in CT scan performed after postoperative 7–10 years. All the cross-sectional areas of the cysts evaluated in this study were reduced postoperatively.

Conclusions

This study revealed that acetabular subchondral bone cysts do not increase or expand after total hip arthroplasty and indicated that the longitudinal morphological change of acetabular bone cysts in patients of developmental dysplasia of the hip do not influence long-term implant fixation in total hip arthroplasty.

     

Triple negative breast cancer in North of Morocco: clinicopathologic and prognostic features

Background

Triple Negative Breast Cancer (TNBC) is defined by a lack of estrogen and progesterone receptor gene expression and by the absence of overexpression on HER2. It is associated to a poor prognosis. We propose to analyze the clinicopathologic and prognostic characteristics of this breast cancer subtype in a Mediterranean population originated or resident in the North of Morocco.

Methods

We conducted a retrospective study of 279 patients diagnosed with breast cancer between January 2010 and January 2015. Clinicopathologic and prognostic features have been analyzed. Disease-Free Survival (DFS) and Overall Survival (OS) have been estimated.

Results

Of all cases, forty-nine (17.6 %) were identified as having triple negative breast cancer with a median age of 46 years. The average tumor size was 3.6 cm. The majority of patients have had invasive ductal carcinoma (91.8 %) and 40.4 % of them were grade III SBR. Nodal metastasis was detected in 38.9 % of the patients and vascular invasion was found in 36.6 % of them. About half of the patients had an early disease (53.1 %) and 46.9 % were diagnosed at an advanced stage. Patients with operable tumors (61.2 %) underwent primary surgery and adjuvant chemotherapy. Patients with no operable tumors (26.5 %) received neoadjuvant chemotherapy followed by surgery, and patients with metastatic disease (12.2 %) were treated by palliative chemotherapy. DFS and OS at 5 years were respectively 83.7 and 71.4 %. Among 49, twelve had recurrences, found either when diagnosing them or after a follow-up. Local relapse was 6.1 %. Lung and liver metastases accounted consecutively for 8.2 and 10.2 %. Bone metastases were found in 4.1 % and brain metastases in 2.1 % of the cases.

Conclusion

Our results are in accordance with literature data, particularly what concerning young age and poor prognosis among TNBC phenotype. Therefore, the identification of BRCA mutations in our population seems to be essential in order to better adapt management options for this aggressive form of breast cancer.

     

Monte Carlo systems used for treatment planning and dose verification

General-purpose radiation transport Monte Carlo codes have been used for estimation of the absorbed dose distribution in external photon and electron beam radiotherapy patients since several decades. Results obtained with these codes are usually more accurate than those provided by treatment planning systems based on non-stochastic methods. Traditionally, absorbed dose computations based on general-purpose Monte Carlo codes have been used only for research, owing to the difficulties associated with setting up a simulation and the long computation time required. To take advantage of radiation transport Monte Carlo codes applied to routine clinical practice, researchers and private companies have developed treatment planning and dose verification systems that are partly or fully based on fast Monte Carlo algorithms. This review presents a comprehensive list of the currently existing Monte Carlo systems that can be used to calculate or verify an external photon and electron beam radiotherapy treatment plan. Particular attention is given to those systems that are distributed, either freely or commercially, and that do not require programming tasks from the end user. These systems are compared in terms of features and the simulation time required to compute a set of benchmark calculations.     

Extramedullary molecular evidence of the 5'KIAA1509/3'PDGFRB fusion gene in chronic eosinophilic leukemia

We report a case of chronic eosinophilic leukemia (CEL), demonstrating for the first time: (i) the association of CEL with the 5'KIAA1509/3'PDGFRB fusion gene as a consequence of a t(5;14)(q33;q32); (ii) the molecular detection of this rearrangement in an extramedullary site; (iii) the cloning and sequencing of the KIAA1509 and PDGFRB genomic breakpoints. The 5'KIAA1509/3'PDGFRB fusion gene is predicted to encode a protein of 2059 amino acids. The genomic breakpoints were localized inside KIAA1509 intron 11 and PDGFRB intron 10. Sequence analysis in correspondence with these breakpoints revealed the presence of repetitive DNA, such Alu elements, which could promote chromosomal rearrangements.