Acute Promyelocytic Leukemia with del(6)(p22) and Atypical bcr2 PML::RARA Fusion Transcript: A Case Report.

More than 95% of patients with acute promyelocytic leukemia (APL) are characterized by the reciprocal translocation t(15;17)(q24;21), which involves the promyelocytic leukemia protein (PML) gene on chromosome 15 and the retinoic acid receptor-α (RARA) gene on chromosome 17, leading to the production of the PML::RARA chimeric gene. Additional chromosomal abnormalities are described in all acute myeloid leukemias and occur in approximately one-third of patients with newly diagnosed APL. Here, we report the case of de novo APL showing the classical t(15;17)(q24;q21), a deletion of the short arm of chromosome 6 (6p), and a noncanonical molecular variant of the PML::RARA transcript. Nevertheless, the patient achieved complete remission after treatment with conventional therapy with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). Notwithstanding that the molecular pathogenesis of this type of atypical variant still remains unknown, we conclude that this atypical PML::RARA bcr2 fusion gene associated with del(6p) does not seem to alter the effectiveness of combined treatment with ATRA and ATO.

Suicide Trends in the Italian State Police during the SARS-CoV-2 Pandemic: A Comparison with the Pre-Pandemic Period.

The pandemic is posing an occupational stressor for law enforcement personnel. Therefore, a high priority is the need to quantify this phenomenon and put supportive programs in place. During the pandemic period, the Italian State Police implemented different support programs for the personnel. These included a national toll-free number to provide information on COVID-19 to police staff, availability of a health care service by doctors and nurses at the national level, vaccination services, working remotely, and a psychological intervention protocol called "Together we can" ("Insieme Possiamo"). Our study firstly aims to perform a descriptive analysis of the suicide in the Italian police from 2016 to 2021, and secondly aims to compare the pandemic and pre-pandemic periods. During the SARS-CoV-2 pandemic (February 2020 to October 2021), the suicide rate in the State Police did not significantly increase compared to the pre-pandemic period, showing a stable trend with a not significant decrease in the suicide rate. The implementation of staff support services by the Central Directorate of Health of the Italian State Police and individual resilience aspects of the Police personnel in response to the pandemic may have positively affected the phenomenon. These aspects pave the way to further studies on the issue to improve preventive strategies.

Mobile Phone Use "on the Road": A Self-Report Study on Young Drivers.

BACKGROUND: Extensive research showed that multitasking negatively affects driving performance. Multitasking activities can range from talking and texting to listening to music; particularly among young drivers, multitasking behavior is caused mainly from mobile phone use while driving which is one of the main causes of road accidents. OBJECTIVE: The main purpose of this study was to investigate whether some variables (e.g., Sensation-Seeking, preferences of Multitasking) could affect mobile phone use while driving in young drivers and whether any gender differences were present among the examined variables. SETTING AND PARTICIPANTS: The sample consists of 424 Italian students (56% males) with an age range of 18-21 years. A self-report questionnaire was specifically developed to assess variables such as: Attitude toward Multitasking, Perceived Self-efficacy in Multitasking, Accident Risk Perception, General Multitasking Habits, and Sensation Seeking. RESULTS: Through SEM modeling, we found the attitude to multitasking while driving to be largely explained by the considered variables. Using multigroup analysis (MGSEM), the model we developed appears to be suitable for explaining the behaviors of both male and female young drivers. Furthermore, data comparison showed that females were more likely to risk perception toward multitasking, and risk perception when using a mobile phone while driving, while males obtained higher mean scores in Sensation Seeking, Perceived Self-Efficacy in Multitasking, and in Multitasking caused by mobile phone use while driving. CONCLUSION: Our research showed how some variables may influence the inclination of some subjects to engage in multitasking while driving. Furthermore, we discussed the importance of considering these variables in the implementation of effective road safety education projects on driving multitasking.

When "Stay at Home" Can Be Dangerous: Data on Domestic Violence in Italy during COVID-19 Lockdown.

The global pandemic caused by a new strain of Coronavirus has brought the Italian government to adopt quarantine, isolation, and lockdown strategies as restrictive measures to reduce the virus spread. Being forced to stay at home could significantly increase the likelihood of episodes of home-based violence and could also be accompanied by a limited possibility of complaints or defense by the victim. The present study aimed to document, through the use of newspaper articles, the characteristics of domestic violence during the lockdown period related to COVID-19 in Italy (from 9 March 2020 up to 18 May 2020) and compare the results with the same period in 2019. The results showed an increase in domestic violence during the lockdown period compared to the same period the year before and highlighted the differences between the dynamics and violent behavior between the two periods examined. The results and limitations of this research are discussed with reference to the literature.

BCR/ABL1 fluorescence in situ hybridization fusion signals on both copies of chromosome 22 in a Philadelphia-masked chronic myeloid leukemia case: implication for the therapy.

The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence of Philadelphia (Ph) chromosome, which results from a reciprocal translocation t(9;22)(q34;q11). In this report, we describe a CML patient with no evidence of Ph chromosome but trisomy of chromosome 8 as single cytogenetic abnormality and a typical e14a2 (b3a2) BCR-ABL1 fusion transcript. Fluorescence In Situ Hybridization (FISH) analysis revealed an uncommon signal pattern: the fusion signals were located on both copies of chromosome 22. During the course of the disease the appearance of the p.(Tyr315Ile) mutation was recorded. To the best of our knowledge this is the first Ph chromosome-negative CML case with e14a2 (b3a2) BCR-ABL1 transcript and p.(Tyr315Ile) mutation.

Forced Cohabitation during Coronavirus Lockdown in Italy: A Study on Coping, Stress and Emotions among Different Family Patterns.

BACKGROUND: At the beginning of 2020, a pandemic caused by a new strain of coronavirus occurred. On March 9th, the Italian population was forced to lockdown to prevent the spread of this new virus. This event forced families and cohabitants to spend their entire days and weeks in the same physical space, interacting with partners and children with a very different degree of intimacy than in the earlier situation. The present study investigated the effects of being forced to live together on different family patterns, on various dimensions such as stress, coping strategies, time perception and quality evaluation of cohabitation. METHOD: A total sample consisting of 1750 individuals was recruited through a random sample of probability across the Italian country. Due to the lockdown condition, an online questionnaire was set up; several validated scales were chosen, and some open-ended items were included for the thoughts of the participants. RESULTS: The results showed statistically significant differences between the three family patterns examined. CONCLUSION: During the forced period of living together, a positive effect could be inferred as given by the presence of children and the collaborative coping strategies that have been adopted; the results have been discussed according to the literature on the topic.

A double-hit High-grade B-cell lymphoma with three-way translocation t(3;8;14)(q27;q24;q32) involving BCL6, MYC, and IGH.

We describe an High-grade B-cell lymphoma case, in which a complex translocation t(3;8;14) with effects on the genes BCL6, MYC, and IGH, was detected. This case could be the first double-hit lymphoma with a single chromosome rearrangement causing the double effect with three genes involved.

Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.

BACKGROUND: Two chromosome anomalies are frequent in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q). These anomalies are associated with a lower risk of developing myelodysplasia (MDS) and/or acute myeloid leukemia. The chromosome anomalies may be due to an SDS-specific karyotype instability, reflected also by anomalies that are not clonal, but found in single cells in the BM or in peripheral blood (PB). PROCEDURE: Starting in 1999, we have monitored the cytogenetic picture of a cohort of 91 Italian patients with SDS by all suitable cytogenetic and molecular methods. RESULTS: Here, we report clonal chromosome anomalies that are different from the aforementioned, as well as changes found in single cells in BM/PB of the same patients. CONCLUSIONS: Some of the newly recognized clonal anomalies in BM reported here are recurrent, especially unbalanced structural anomalies of chromosome 7, a further complex rearrangement of the del(20)(q) with duplicated and deleted portions, and an unbalanced translocation t(3;6), with partial trisomy of the long arm of chromosome 3 and partial monosomy of the long arm of chromosome 6. Firm conclusions on the possible prognostic relevance of these anomalies would require further study with larger patient cohorts, but our data are sufficient to suggest that these patients necessitate more frequent cytogenetic monitoring. The results on anomalies found in single cells confirm the presence of an SDS-specific karyotype instability.

High variability of genomic instability and gene expression profiling in different HeLa clones.

The HeLa cell line is one of the most popular cell lines in biomedical research, despite its well-known chromosomal instability. We compared the genomic and transcriptomic profiles of 4 different HeLa batches and showed that the gain and loss of genomic material varies widely between batches, drastically affecting basal gene expression. Moreover, different pathways were activated in response to a hypoxic stimulus. Our study emphasizes the large genomic and transcriptomic variability among different batches, to the point that the same experiment performed with different batches can lead to distinct conclusions and irreproducible results. The HeLa cell line is thought to be a unique cell line but it is clear that substantial differences between the primary tumour and the human genome exist and that an indeterminate number of HeLa cell lines may exist, each with a unique genomic profile.

Alternate clonal dominance in richter transformation presenting as extranodal diffuse large B-cell lymphoma and synchronous classic Hodgkin lymphoma.

OBJECTIVES: Richter transformation (RT) represents the rare occurrence of a secondary aggressive lymphoma in the setting of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). METHODS: Here we describe the peculiar case of a patient with trisomy 12+ and atypical (CD5+, CD23-) CLL/SLL who developed a two-step RT with complex morphologic and molecular features. RESULTS: Molecular analysis of a CLL/SLL population detected two different immunoglobulin rearrangement patterns corresponding to a main peak and a minor peak. Transformation took place both as gastric diffuse large B-cell lymphoma and as a synchronous bone marrow classic Hodgkin lymphoma with the same immunoglobulin rearrangement pattern corresponding to the minor peak detected in CLL/SLL at diagnosis. During chemotherapy, progression occurred as axillary nodal involvement by a CD5+ high-grade lymphoma with an immunoglobulin rearrangement pattern corresponding to the main CLL peak. CONCLUSIONS: In this case, the elaborate clinical and molecular picture may be correlated to an alternate dominance of two distinct clonal populations probably influenced by therapeutic and environmental factors.

Ewing sarcoma of the small bowel: a study of seven cases, including one with the uncommonly reported EWSR1-FEV translocation.

AIMS: Primary Ewing sarcoma of the ileum has rarely been documented. Little is known about its pathogenesis and clinical implications, and it would be helpful to identify novel molecular markers. EWSR1-FEV translocation is exceedingly rare in Ewing sarcoma, as FEV expression is restricted to prostate, brain and serotonin neuroendocrine cells (NE) and related tumours. METHODS AND RESULTS: Paraffin sections or snap-frozen material were used in this investigation. Tumours were investigated by means of immunohistochemistry, RT-PCR (EWSR1-FLI1, EWSR1-ERG and EWSR1-FEV transcripts), FISH analysis (EWSR1 break-apart and specific EWSR1-FEV translocation) and spectral karyotyping (SKY). Ten ileal neuroendocrine tumours (INET) made up the control group for EWSR1-FEV translocation. Among 445 Ewing sarcomas cases spanning a period of 20 years, seven (1.6%) arose in the ileum. All tumours were immunoreactive for synaptophysin, CD99, FLI1 and vimentin. FISH identified EWSR1 rearrangement in all cases, with EWSR1-FLI1 transcripts being detected in all but one tumour showing the uncommon EWSR1-FEV rearrangement, with SKY, RT-PCR and FISH confirmation. The mean survival of EWSR1-FLI1 patients was 14 months, whereas the EWSR1-FEV patient was alive after 15 years despite several recurrences controlled by surgery alone. No INET showed EWSR1 translocation. CONCLUSIONS: Most primary Ewing sarcomas of the ileum show the common EWSR1-FLI1 translocation, but EWSR1-FEV could be specific for tumours arising in the ileum and showing better prognosis.