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The first description of a singular case of synchronous chronic myelomonocytic leukemia and diffuse large b-cell lymphoma.

In CMML, neoplastic monocytes can be distinguished based on their immunophenotype. Supportive care myeloid growth factors in concomitant extranodal non-Hodgkin Lymphoma are safe.

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… Broad copy neutral‐loss of heterozygosity regions and rare recurring copy number abnormalities in normal karyotype‐acute myeloid leukemia genomes . Genes Chromosomes Cancer . 2010 ; 49 ( 11 ): 1014 ‐ 1023 . 20725993 10.1002/gcc.20810 17 Barresi V , Palumbo GA , Musso N , et al. …

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

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Long-Term Follow up of Blinatumomab in Older Patients with B-Cell Acute Lymphoblastic Leukemia.

Older adults who are diagnosed with acute lymphoblastic leukemia (ALL) and are treated with chemotherapy generally have poor outcomes. Blinatumomab is a CD19/CD3 bispecific T-cell engager that has been approved for the treatment of B-cell ALL in the relapsed/refractory setting or in patients with minimal residual disease (MRD) positivity. We previously reported on a small cohort of older adults with newly diagnosed Philadelphia chromosome negative B-cell ALL who were treated with blinatumomab monotherapy in the first line setting. This is a long-term follow up of those patients and their clini

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… There are several reported mechanisms for the disappearance of CD19 at the time of relapse, including convergence of acquired mutations and alternative splicing of CD19 [ 12 ], loss of heterozygosity in CD19 gene at the time of CD19-negative relapse [ 13 ], retention of misfolded protein in the endoplasmic …

NETs: organ-related epigenetic derangements and potential clinical applications.

High-throughput next-generation sequencing methods have recently provided a detailed picture of the genetic landscape of neuroendocrine tumors (NETs), revealing recurrent mutations of chromatin-remodeling genes and little-to-no pathogenetic role for oncogenes commonly mutated in cancer. Concurrently, multiple epigenetic modifications have been described across the whole spectrum of NETs, and their putative function as tumorigenic drivers has been envisaged. As result, it is still unclear whether or not NETs are epigenetically-driven, rather than genetically-induced malignancies. Although the N

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… The largest group of NETs was defined by chromosome 18 loss of heterozygosity, and was associated with CDKN1B mutations and CIMP negativity. … of heterozygosity are features of foregut but not midgut and hindgut malignant endocrine tumours J Pathol 2005 206 409 16 15887288 10.1002/path.1784 28 Liu L Broaddus RR Yao JC Xie S White JA Wu TT Hamilton SR Rashid A Epigenetic alterations in neuroendocrine tumors: methylation of RAS-association …

Adult hypophosphatasia treated with reduced frequency of teriparatide dosing.

We report a 41-year-old man diagnosed with the adult form of hypophosphatasia (HPP) and treated for 4 years with less frequent than conventional daily doses of teriparatide (TPTD). He presented with a history of three low-energy fractures and low bone mineral density (BMD) ineffectively treated with bisphosphonate. We identified within ALPL, the gene that encodes the homodimeric "tissue-nonspecific" isoenzyme of alkaline phosphatase (ALP) and underlies HPP, a heterozygous missense mutation (c.455 G>A→R135H). Characteristic painful periarticular calcification removed at a shoulder did not recur

Precision genomic profiling in Gaucher disease: insights from atypical presentations.

BackgroundGaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation of glucosylceramide (GlcCer) lead to chronic metabolic inflammation, providing ample opportunities for interaction with other biological pathways to influence disease expression. Herein, we developed a model of precision medicine in this prototype single-gene disorder.MethodsThis study leveraged a well-characterized, longitudinally followed cohort

Epithelioid Hemangioendothelioma With a Novel Chromosomal Deletion and an Aggressive Clinical Course: A Case Report and Literature Review.

Epithelioid hemangioendothelioma (EHE) is a rare neoplastic process arising from the endothelial lining of virtually any blood vessel, with varying degrees of metastatic spread. In the following case report, the clinical course and treatment stratification are detailed for a 59-year-old female who originally presented with cervical radiculopathy and was found to have aggressive-type EHE refractory to multiple lines of therapy. In doing so, a novel deletion of the long arm of Chromosome 16 at Position 24, in all cells analyzed, ISCN Karyotype: 46,XX,del(16)(q24)[10] is also identified and may c

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… J., Gene Mapping and Expression Analysis of 16q Loss of Heterozygosity Identifies WWOX and CYLD as Being Important in Determining Clinical Outcome in Multiple Myeloma, Blood. (2007) 110, no. 9, 3291–3300, 10.1182/blood-2007-02-075069, 2-s2.0-36148955443. 13. Hansen L. …

Metabolic Alterations in Cancer Cells and the Emerging Role of Oncometabolites as Drivers of Neoplastic Change.

The mitochondrion is an important organelle and provides energy for a plethora of intracellular reactions. Metabolic dysregulation has dire consequences for the cell, and alteration in metabolism has been identified in multiple disease states-cancer being one. Otto Warburg demonstrated that cancer cells, in the presence of oxygen, undergo glycolysis by reprogramming their metabolism-termed "aerobic glycolysis". Alterations in metabolism enable cancer cells to gain a growth advantage by obtaining precursors for macromolecule biosynthesis, such as nucleic acids and lipids. To date, several molec

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… of heterozygosity. … Affected cells inherit a germline LOF mutation in one allele and the tumors that develop exhibit loss of heterozygosity (LOH) of the other wild-type allele, through somatic deletion or chromosomal loss [ 116 ]. …

Преобразовательный потенциал липидных наночастиц, приспособленных для острой миэлоидной лейкемии.

Технологи, которые занимаются клетками, и инженерная клеточная терапия до сих пор не принесли таких же впечатляющих результатов в острой миэлоидной лейкемии (АМЛ), что и в других гематологическая малигнации. В ходе этого обзора мы анализируем проблемы, связанные с разработкой иммунотерапии для борьбы с отмыванием денег, включая целевую, неопухоль, синдром выброса цитокина (КРС) и «миелиоидный поглотитель». Затем мы обсуждаем появление двух технологий, которые могли бы решить основные проблемы, связанные с проведением расследований по борьбе с отмыванием денег: целенаправленные липидные наночас

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… So far, clinical studies have confirmed that the Tmod system behaves per design, using an HLA-A*02-targeted blocker to protect healthy tissues in heterozygous patients whose tumors have lost the allele via loss of heterozygosity (LOH) (e.g., 66 ). … of heterozygosity: initial safety and efficacy results ”, in: Annual Meeting for Society for Immunotherapy of Cancer (SITC) ( National Harbor, MD, US ), 5 – 9 , Poster presentation. 67 Wisniewski D Affer M Willshire J Clarkson B . …

Translational Advances in Oncogene and Tumor-Suppressor Gene Research.

Cancer, characterized by the uncontrolled proliferation of cells, is one of the leading causes of death globally, with approximately one in five people developing the disease in their lifetime. While many driver genes were identified decades ago, and most cancers can be classified based on morphology and progression, there is still a significant gap in knowledge about genetic aberrations and nuclear DNA damage. The study of two critical groups of genes-tumor suppressors, which inhibit proliferation and promote apoptosis, and oncogenes, which regulate proliferation and survival-can help to unde

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… This mechanism involves LOF mutations followed by a loss of heterozygosity (LOH) at specific loci of the affected tumor-suppressor genes [ 8 , 10 ]. … Loss of Heterozygosity of Essential Genes Represents a Widespread Class of Potential Cancer Vulnerabilities Nat. Commun. 2020 11 2517 10.1038/s41467-020-16399-y 32433464 PMC7239950 11. Fluiter K. Housman D. ten Asbroek A.L.M.A. Baas F. …

Keyword Index for Volume 98

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[Retracted] miR‑23a suppresses pancreatic cancer cell progression by inhibiting PLK‑1 expression.

BACKGROUND: One presentation of Avoidant/Restrictive Food Intake Disorder (ARFID) is characterized by picky eating, i.e., selective eating based on the sensory properties of food. The present study has two aims. The first is to describe distress and impairment in individuals with ARFID secondary to picky eating. The second is to determine whether eating behaviors hypothesized to be specific to picky eating can differentiate picky eaters with and without ARFID from typical eaters (e.g., individuals not reporting picky or disordered eating) and individuals who strongly endorse attitudes associat

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… The two most common breast cancer genes are BRCA1 and BRCA2 , both of which are required for homologous DNA repair. 1 , 10 , 83 , 84 A loss of heterozygosity and hereditary mutations in BRCA1 or BRCA2 increase chromosomal instability, thus increasing the cancer risk. … Low prevalence of loss of heterozygosity and SMAD4 mutations in sporadic and familial juvenile polyposis syndrome-associated juvenile polyps. Am. J. Gastroenterol. 2004;99:2025–2031. doi: 10.1111/j.1572-0241.2004.30502.x. 120. Zhou XP, et al. …

Clonal hematopoiesis and its progression to myeloid neoplasms: insights into risk, biology, and therapeutic strategies.

Clonal hematopoiesis (CH) is defined by the clonal expansion of hematopoietic stem and progenitor cells harboring somatic mutations that confer a fitness advantage. CH is common with advancing age and becomes nearly ubiquitous in middle age. Although typically asymptomatic, CH is associated with an increased risk of hematologic malignancies particularly myeloid neoplasms (MN), diverse non-malignant conditions, and all-cause mortality. Over the past decade, research has provided major insights into the origins of CH. In addition to aging, CH is promoted by environmental exposures, inherited gen

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… stem cells acquiring somatic mutations that modify fitness is pervasive across human tissues and increases with advancing age. 1-3 A variety of DNA alterations can drive CH including point mutations, insertions-deletions (indels), and large-scale chromosomal changes (gains, losses, and copy-neutral loss … JAK2 V617F VAF significantly influences MPN subtype distribution: higher VAF (>50%), often reflecting homozygous mutations due to copy-neutral loss of heterozygosity, are strongly associated with polycythemia vera and myelofibrosis, whereas lower VAF, consistent with heterozygous mutations, are more …

Keyword Index for Volume 91

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The role of B2M in cancer immunotherapy resistance: function, resistance mechanism, and reversal strategies.

Immunotherapy has emerged as a preeminent force in the domain of cancer therapeutics and achieved remarkable breakthroughs. Nevertheless, the high resistance has become the most substantial impediment restricting its clinical efficacy. Beta-2 microglobulin (B2M), the light chain of major histocompatibility complex (MHC) class I, plays an indispensable part by presenting tumor antigens to cytotoxic T lymphocytes (CTLs) for exerting anti-tumor effects. Accumulating evidence indicates that B2M mutation/defect is one of the key mechanisms underlying tumor immunotherapy resistance. Therefore, eluci

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… Currently, B2M mutation comprises point mutation, frameshift mutation, and loss of heterozygosity (LOH), which have been documented in malignant tumors like gastric cancer, colorectal cancer, renal cancer, and melanoma. … Gurjao et al. ( 80 ) | scRNA-seq Bulk RNA-seq WES IHC MIF | dMMR /MSI-H CRC | B2M | 595 cells | 2 | The biallelic loss of B2M (frameshift deletion/loss of heterozygosity) leads to impaired antigen presentation, which may contribute to intrinsic resistance to immune checkpoint blockade therapy in dMMR …

Current and emerging therapeutic options in adrenocortical cancer treatment.

Adrenocortical carcinoma (ACC) is a very rare endocrine tumour, with variable prognosis, depending on tumour stage and time of diagnosis. The overall survival is five years from detection. Radical surgery is considered the therapy of choice in the first stages of ACC. However postoperative disease-free survival at 5 years is only around 30% and recurrence rates are frequent. o,p'DDD (ortho-, para'-, dichloro-, diphenyl-, dichloroethane, or mitotane), an adrenolytic drug with significant toxicity and unpredictable therapeutic response, is used in the treatment of ACC. Unfortunately, treatment f

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… Loss of heterozygosity (LOH) at chromosome region 11p15, associated with a higher risk of tumor recurrence, is more frequent in ACC than in adrenal adenomas [ 6 ]. … Overexpression of IGF-II and topoisomerase 2A (TOPO 2A) [ 32 ] and loss of heterozygosity (LOH) on chromosome 11p15 and 17p13 loci [ 6 ] were identified as factors could potentially be used to predict a grade of malignancy. …

Keyword Index for Volume 107

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Dual Roles of NIX/BNIP3L in Tumors: Friend or Foe.

Cancer is one of the leading causes of disease-related death worldwide, and targeting key regulatory genes to induce programmed cell death in tumor cells has emerged as a crucial therapeutic strategy, following surgery, radiotherapy, and chemotherapy. As a mitochondrial outer membrane protein, NIX/BNIP3L can both mediate apoptosis to inhibit tumor cell growth and promote tumor cell survival by clearing intracellular reactive oxygen species (ROS) through mitophagy. Therefore, we summarize a brief overview of the structure and function of NIX/BNIP3L, as well as the mechanisms of NIX/BNIP3L gener

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… This region frequently exhibits loss of heterozygosity in multiple tumor types [ 13 ], suggesting that this recurrent loss of heterozygosity indicates NIX/BNIP3L plays a critical role in tumorigenesis and cancer progression. …

Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.

Porokeratosis is a heterogeneous group of keratinising disorders characterised by the presence of particular microscopic structural changes, namely the presence of the cornoid lamella. This structure develops as a consequence of a defective isoprenoid pathway, critical for cholesterol synthesis. Commonly recognised variants include disseminated superficial actinic porokeratosis, disseminated superficial porokeratosis, porokeratosis of Mibelli, palmoplantar porokeratosis (including porokeratosis palmaris et plantaris disseminata and punctate porokeratosis), linear porokeratosis, verrucous porok

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… Four DSP cases coexisting with LP (including one rare case presenting DSP, LP and PM), possibly due to a loss of heterozygosity [ 53 , 55 , 187 , 188 ], two cases with coexistence with PM [ 189 , 190 ] and one case clinically fitting the clinical presentation of DSP coexisting with VP [ 191 ] have also … The mechanism of malignant transformation in LP is likely associated with the loss of heterozygosity [ 399 ] (see Section 11 for details). 6.3. Dermatoscopy The cornoid lamella might be very subtle in LP. …

clevRvis: visualization techniques for clonal evolution.

BackgroundA thorough analysis of clonal evolution commonly requires integration of diverse sources of data (e.g., karyotyping, next-generation sequencing, and clinical information). Subsequent to actual reconstruction of clonal evolution, detailed analysis and interpretation of the results are essential. Often, however, only few tumor samples per patient are available. Thus, information on clonal development and therapy effect may be incomplete. Furthermore, analysis of biallelic events-considered of high relevance with respect to disease course-can commonly only be realized by time-consuming

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… A biallelic event affecting TP53 (loss of heterozygosity + point mutation in TP53) is marked. Supplementary Fig. S38 . Visualization of clonal evolution of patient 4 in dataset 4. (A) Fishplot. (B) Timescape. … A biallelic event affecting TP53 (loss of heterozygosity + point mutation in TP53) is marked. Supplementary Fig. S40 . Visualization of clonal evolution of patient 6 in dataset 4. (A) Timescape. …