Bladder Cancer, a Cytogenomic Update.

Bladder cancer is a highly heterogeneous malignancy, affecting 600,000 people annually. Approximately 66% of patients will recur within five years; accordingly, accurate diagnosis and intensive surveillance of bladder cancer are crucial for effective treatment. This update aims to consolidate the genetic-molecular understanding of bladder cancer via investigation of the crucial genetic players in bladder cancer.

The Main Genetic-Molecular Aspects of Penile Cancer.

Penile cancer, while relatively rare compared to other male malignancies, has seen an increased global incidence, with 36,068 new cases reported in 2020. This condition primarily affects regions with low human development indexes, notably India, China and Brazil. The mainstay of treatment is often partial or total penectomy, which has a profound impact on patients' emotional and social lives.

The Key Role of the RPS14 Gene in Neoplasms and Solid Tumors.

The ribosomal protein S14 (RPS14) gene located at 5q33 codes for a protein involved in ribosomal biogenesis. The RPS14 gene has a length of 5.9 kb of DNA comprising 5 exons and 4 introns.

An Isochromosome 9q: A Rare Event in Pediatric B-ALL.

B-cell acute lymphoblastic leukemia (B-ALL) is one of the most common leukemias affecting the pediatric population. It represents ~25% of cancer diagnoses among children. Specific genetic changes predict the prognosis in B-ALL with recurrent genetic changes.

A Highly Complex Hyperdiploid Karyotype in a Patient with MDS: A Case Report and Review of the Literature.

We present a case study of a 73-year-old female with a history of pancytopenia. The bone marrow core biopsy was suggestive of a myelodysplastic syndrome, unspecified (MDS-U). Chromosomal analysis of the bone marrow revealed an abnormal karyotype including gain of chromosomes 1, 4, 6, 8, 9, 19, and 20 in addition to loss of chromosomes 11, 13, 15, 16, 17, and 22.

A B-ALL Pediatric Patient with a Cryptic IGH Rearrangement Within the Context of a Complex Karyotype.

B-cell acute lymphoblastic leukemia (B-ALL) can afflict both adult and pediatric patients and is characterized by a build-up of B lymphoblasts. Here we present a case of a 25-year-old male patient with a history of B-ALL. Ninety percent of the bone marrow revealed pancytopenia with sheets of B lymphoblasts consistent with the diagnosis of B-ALL for acute pre-B lymphoblastic leukemia.

JAK2 in Ph-like B-Acute Lymphoblastic Leukemia.

The Janus Kinase 2 gene (JAK2) provides instructions for generating a protein that promotes the division and growth, or what is referred to as the proliferation, of cells. This generated protein relays signals in cells in order to promote cell growth, as well as help manage the count of white blood cells, red blood cells, and platelets that are generated within the bone marrow. Mutations and rearrangements of JAK2 are found in 3.

Amplification of RUNX1 in a Patient With AML.

Acute myeloid leukemia (AML) is a heterogeneous disease, characterized by clonal expansion of undifferentiated myeloid precursors, leading to alterations in hematopoiesis and bone marrow failure. Characteristic chromosomal abnormalities in AML are translocations t(8;21), inv(16), t(15;17), t(9;22), as well as mutations of genes that regulate proliferation and survival (FLT 3, PTPN 11, ETV 6/PDGFB), or genes responsible for differentiation and apoptosis (RUNX-1/RUNX1T1, PML/RARA, KMT2A, CEBPA and CBFB). Amplification of RUNX1 is a rare event in AML.

EGFR Amplification in a Patient with Glioblastoma: A Case Report and Review of the Literature.

Glioblastoma Multiforme (GBM) is the most malignant and frequently occurring primary brain tumor out of the different types of primary astrocytomas. It presents with an extremely poor prognosis, with a median survival of 14 to 15 months from the diagnosis. Herein, we present an 83-year-old female patient with a right frontal brain mass.

Molecular Cytogenetic Characterization of a Structural Abnormal Chromosome 16 in a Patient with Acute Myeloid Leukemia Leading to Inversion Chromosome 16 with Concomitant 3'CBFB Deletion.

Acute myeloid leukemia (AML) presents as a heterogeneous blood cancer characterized by the proliferation of immature myeloid cells. We present the case of an 18-year-old female with AML whose symptoms include marked leukocytosis, anemia, as well as thrombocytopenia with spontaneous cerebellar and intracerebral bleeds. The bone marrow biopsy is hypercellular and is expunged by sheets of blast cells with dispersed chromatin, prominent nucleoli, highly irregular nuclei, and moderate cytoplasm.

Ultrastructural analysis of Lyophilized Human Spermatozoa.

Objective: Lyophilization is potentially more practical and cost-effective alternative for sperm preservation. However, there are no studies that evaluate the ultrastructure of human spermatozoa after lyophilization. Therefore, the aim of our study was to evaluate the ultrasctructure of lyophilized spermatozoa using Transmission Electron Microscopy.

ASXL1 Gene in AML.

The ASXL1 (additional sex combs like 1) gene on 20q11 codifies the ASXL1 protein that belongs to protein complexes that play a role in gene expression and epigenetic regulation. ASXL1 is located near the DNMT3B gene and is part of a family of three genes (ASXL1, ASXL2, ASXL3) that are homologues to the Drosophila Asx gene. The ASXL1 gene contains a total of 14 exons and is expressed in the vast majority of hematopoietic cell types.

Ovarian response after random-start controlled ovarian stimulation to cryopreserve oocytes in cancer patients.

Objective: To evaluate COS and oocyte retrieval results in ART treatment cycles initiated at any stage of the menstrual cycle (random start) in cancer patients, who could not postpone the onset of cancer treatment.

Methods: Prospective observational study of 26 women with cancer, with an indication to start cancer treatment within the next 20 days and wishing to preserve their fertility. Ovarian stimulation started immediately with FSH followed by GnRH antagonist for pituitary suppression and GnRH agonist for oocyte maturation.