Journal of Experimental Pathology

The nature of gene mutations induced by ionizing radiation in germ cells and transmitted to offspring remains one of the most important problems in radiation genetics of higher eukaryotes. The data accumulated in this field were obtained by different authors under different experimental conditions which does not give a complete insight about the nature of radiation-induced inherited mutations at different genome levels (chromosome, gene, DNA). 

Balanced translocation resulting in fusion of the Abelson gene (ABL₁) from chromosome 9q34 with the breakpoint cluster region (BCR) gene on chromosome 22q11.2 is the pathognomonic molecular driver of CML. The resulting BCRABL 1 fusion gene is both the diagnostic as well as therapeutic target of CML. The first agent with tyrosine kinase inhibitor activity that was licenced in 2000 for treatment of CML patients, was Imatinib, gradually followed by multiple agents with higher efficacy.

NOBOX is an ovarian specific transcription factor that plays an important role in follicular growth and survival. Nineteen NOBOX variants have been previously associated with premature ovarian insufficiency (POI). Disease severity in patients with heterozygous and homozygous mutations largely overlap however, hampering genotype-phenotype correlations. We recently reported the first case of biallelic truncating mutations (NM_001080413.3 (NOBOX):c.826C>T, p.(Arg276*) and NM_001080413.3(NOBOX):c.1421del, p.(Gly474Alafs*76)) of NOBOX in two Belgian sisters with POI.

Although NK cells are recognized as effector lymphocytes of the innate immune system, they also regulate the adaptive immune response by releasing inflammatory cytokines and developing immunological memory. Unlike other lymphocytes such as T or B cells, NK cells do not express rearrangeable, antigen-specific receptors. 

The transient receptor potential mucolipin 1 (TRPML1) is an endolysosomal channel belonging to the TRP family. Clinically, mutations of TRPML1 have been responsible for a severe lysosomal storage disorder called mucolipidosis type IV.

In order to implement the knowledge of cancer to monitor its evolution and setting, in the last decade, new minimally invasive and repeatable samples collection have been developed such as liquid biopsy. Cancer biomarkers originating from tumors can represent the molecular status of the tumor or its metastases which release them directly into body fluids or indirectly due to disruption of tumor/metastatic tissue. These biomarkers are detectable in liquid biopsy.

Background: We have recently published SL-BioDP, a web resource for querying, exploration and visualization of potential synthetic lethal targets and possible synergistic drug combinations for 18 cancer types. Methods: From our predictive synthetic lethality model used in SL-BioDP, we inferred TP53 mutation lead to potential synergistic drug combination of Bortezomib and Vorinostat. Here we show, how to extrapolate the drug combination results by combining drug screening data from cancer cell lines and showed the potential synergy of the drug targets, proteasome, and histone deacetylase (HDAC) pathways respectively, for patient survival advantage.

Appropriate medicinal drugs can save life of any patientat risk with high mortality and morbidity. All ongoingcosts and benefits are covered mainly by the health insurance, the pharmaceutical, and alternative medicine industry.

Breast cancer is the second most common cancer worldwide, affecting nearly one in eight women. Accurate cancer staging is essential for determining the patient’s prognosis and for choosing the appropriate treatment. The staging system most often used is the American Joint Committee on Cancer (AJCC) TNM system, where T refers to the size of the tumor, N refers to spread of the primary cancer to nearby lymph nodes, and M refers to the spread of metastasis to distant sites in the body.

However, the entire coagulation cascade is dysfunctional, in progressed chronic diabetes and cancer patients. Platelets (PLTs) in type 2 diabetic (DT2) involved in Thrombosis and Haemostasis (T&H) of individuals adhere to vascular endothelium and aggregate more voluntarily than those in healthy individuals, as are abnormalities in the microvascular and macrovascular circulations. However it is already known that the circulating PLTs are essential for T&H, inflammation growth factors delivery, regeneration; and knowledge of their function is fundamental to understanding the pathophysiology of vascular disease in diabetes and cancer-related diseases.

Fatty acid oxidation disorders unfortunately can result in the sudden unexplained death of infants. Mitochondrial trifunctional protein (MTP) deficiency is one such disease where long-chain fatty acids cannot be fully oxidized through beta-oxidation which, can lead to cardiac arrythmias in an infant.

Primary extra cranial meningioma of the ear and temporal bone are exceedingly rare, making up less than 1% of all meningiomas. Histologically, they are indistinguishable from their intracranial counterpart. The histopathologic diagnosis is often challenging, and the differential diagnosis for neoplasms in this unusual location is quite extensive. We report a 64-year-old male patient with history of seizures who presented with coalescing mastoiditis and sigmoid sinus thrombosis.

This commentary refers to our published article, as highlighted in this article most common gene causing breast cancer in the population living in the United Arab Emirates is BRCA2 followed by BRCA1. This is the first publication discussing about clinical and pathological features of breast cancer in woman with a positive genetic mutation in the United Arab Emirates. The UAE has a rising population of a mixed ethnic population with predominantly Arabic background.  

Chronic Myeloid Leukemia (CML) is a clonal disorder originated by a pluripotent hematopoietic stem cell, which presents the translocation t(9;22) (q34;q11) in 90% of the cases. This genetic abnormality is a balanced translocation between Abelson Murine Leukemia (ABL) located in chromosome 9 with the Breakpoint Cluster Region (BCR) gene at chromosome 22, generating Philadelphia chromosome (Ph) or BCR-ABL1, which codes an oncoprotein of 210 kDa. This alteration represents a hallmark in oncology and for CML research, diagnosis, and prognosis. 

In breast cancer, tyrosine kinase-type cell surface receptor HER2-targeted therapies do not achieve a sustained inhibition of oncogenic signaling. Therapy-resistant tumors compensate for HER2 inhibition through several mechanisms, including increased expression of other cell-surface receptors most notably HER3. HER3 remains currently undruggable despite extensive clinical efforts. Durable efficacy of HER2-based therapy regimens requires, therefore, effective inhibition of HER2 and HER3.

Accidental admitting and using (un-) known drugs might manipulate health and/or disease(s) of a subject in a positive (healing) and/or negative way (increased mortality and morbidity rate). Now a days, different kinds of drug development technologies are available, which might help affect global health. Though, the psychiatric comorbid disorders were important risk factors for premature drug-related deaths despite so many developed tools and technologies.

Results of epidemiological studies show that obesity and type 2 diabetes mellitus have become a public health concern globally, which has substantial health, social and economic impacts. A common characteristic of human obesity and type 2 diabetes is insulin resistance, which a given amount of insulin produces less than normal physiological responses, usually demonstrated as diminished glucose lowering effect of insulin.

Breast Cancer is the most regularly diagnosed type of cancer in women in the world, making up on its own 25% of all cases, or nearly 2 million new cases in 2018, and 15% of all cancer related deaths, or around 626,700 deaths for that same year.

In 2020 we published a series of 18 patients who underwent neoadjuvant chemotherapy (NACT) and vaginal radical trachelectomy (VRT) as a fertility sparing alternative in stage 1B2 cervical cancer.

At present, breast cancer is more frequently diagnosed in women than in men. According to global cancer statistics, each year more than 1,675,000 women are diagnosed and more than 500,000 of them die. Some subtypes of breast cancer have been described.