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Journal Francais D'ophtalmologie Mar 2024
Topics: Child; Humans; Sarcoma, Myeloid
PubMed: 38114380
DOI: 10.1016/j.jfo.2023.07.004 -
Pathology Feb 2024Myeloid sarcoma is a rare extramedullary haematopoietic malignancy. Interaction between CD47 and signal regulatory protein α (SIRPα) inhibits phagocytosis....
Myeloid sarcoma is a rare extramedullary haematopoietic malignancy. Interaction between CD47 and signal regulatory protein α (SIRPα) inhibits phagocytosis. CD47-positive tumours confer poor prognoses in various malignant tumours, including acute myeloid leukaemia. This study aimed to investigate the clinicopathological effects of CD47 and SIRPα expression in myeloid sarcoma. Immunohistochemistry (IHC) of CD47 and SIRPα was performed in 84 biopsy samples obtained from patients with myeloid sarcoma, some of which were CD47-positive. Patients were categorised into the following two groups based on IHC of SIRPα: those with SIRPα-positive neoplastic cells (nSIRPα) and, SIRPα expression on non-neoplastic stromal cells in tumour microenvironment (miSIRPα). In addition, patients with CD47 positivity had higher lymphocytic infiltration into the tumour microenvironment. Overall, these patients had significantly higher overall survival, however, no significant difference was observed in progression-free survival. No significant prognostic differences were observed between the nSIRPα and miSIRPα groups. This is the first study to demonstrate an association between CD47 expression and improved prognosis in myeloid sarcoma. Nonetheless, it will be necessary to conduct additional research on gene expression and genomic abnormalities to elucidate the corresponding pathogenesis of myeloid sarcoma.
Topics: Humans; Receptors, Immunologic; Prognosis; Sarcoma, Myeloid; Antigens, Differentiation; CD47 Antigen; Leukemia, Myeloid, Acute; Tumor Microenvironment
PubMed: 38110323
DOI: 10.1016/j.pathol.2023.10.007 -
Biogerontology Apr 2024Telomeres are the nucleoprotein complex at chromosome ends essential in genomic stability. Baseline telomere length (TL) is determined by rare and common germline... (Review)
Review
Telomeres are the nucleoprotein complex at chromosome ends essential in genomic stability. Baseline telomere length (TL) is determined by rare and common germline genetic variants but shortens with age and is susceptible to certain environmental exposures. Cellular senescence or apoptosis are normally triggered when telomeres reach a critically short length, but cancer cells overcome these protective mechanisms and continue to divide despite chromosomal instability. Rare germline variants in telomere maintenance genes cause exceedingly short telomeres for age (< 1st percentile) and the telomere biology disorders, which are associated with elevated risks of bone marrow failure, myelodysplastic syndrome, acute myeloid leukemia, and squamous cell carcinoma of the head/neck and anogenital regions. Long telomeres due to rare germline variants in the same or different telomere maintenance genes are associated with elevated risks of other cancers, such as chronic lymphocytic leukemia or sarcoma. Early epidemiology studies of TL in the general population lacked reproducibility but new methods, including creation of a TL polygenic score using common variants, have found longer telomeres associated with excess risks of renal cell carcinoma, glioma, lung cancer, and others. It has become clear that when it comes to TL and cancer etiology, not too short, not too long, but "just right" telomeres are important in minimizing cancer risk.
Topics: Humans; Reproducibility of Results; Telomere; Telomere Shortening; Cellular Senescence; Genomic Instability; Telomerase; Neoplasms
PubMed: 38109000
DOI: 10.1007/s10522-023-10080-9 -
ACG Case Reports Journal Dec 2023A female patient in her mid-70s, with a history of diverticulosis, presented with a 2-month history of severe diarrhea, left lower quadrant abdominal pain, decreased...
A female patient in her mid-70s, with a history of diverticulosis, presented with a 2-month history of severe diarrhea, left lower quadrant abdominal pain, decreased appetite, and fever. She was treated for diverticulitis, but did not improve. Subsequent workup revealed leukocytosis and circulating myeloblasts on a peripheral blood smear. Bone marrow evaluation and flow cytometry confirmed the diagnosis of acute myeloid leukemia. Abdominal computed tomography and sigmoidoscopy were performed for her persistent diarrhea. While both failed to show an obvious mass or anatomical abnormality, pathology from the colorectum showed infiltration by leukemic cells consistent with myeloid sarcoma. The diarrhea improved with acute myeloid leukemia chemotherapy.
PubMed: 38089536
DOI: 10.14309/crj.0000000000001213 -
Indian Journal of Pathology &... 2023Biliary obstruction secondary to malignancy is a common clinical problem. Rarely, biliary obstruction is due to leukemia, and obstructive jaundice in these patients...
Biliary obstruction secondary to malignancy is a common clinical problem. Rarely, biliary obstruction is due to leukemia, and obstructive jaundice in these patients usually presents late in the course of the disease. We present a rare case of a patient who presented with fever, jaundice, and pruritus with multiple nodular swellings in the left shoulder, left thigh, and lower back. Magnetic resonance cholangiopancreatography (MRCP) revealed periampullary mass lesion causing dilated common bile duct (CBD) and intrahepatic bile ducts; hence, endoscopic retrograde cholangiography with plastic stenting was done. Biopsy from the shoulder lesion revealed a mesenchymal tumor, and immunohistochemistry (IHC) confirmed the lesion as myeloid sarcoma. Myeloid sarcoma is an extramedullary tumor, a subtype of acute myeloid leukemia, and presentation as biliary lesions with multiple anatomical sites is very rare. The patient was started on chemotherapy after the normalization of bilirubin. The patient showed improvement of skin lesions and normalization of liver function test (LFT) after 3 weeks of chemotherapy.
Topics: Humans; Jaundice, Obstructive; Sarcoma, Myeloid; Cholestasis; Bile Ducts, Intrahepatic; Common Bile Duct
PubMed: 38084550
DOI: 10.4103/ijpm.ijpm_1108_21 -
International Journal of... Oct 2023Myeloid sarcoma (MS) or chloroma is a localized mass composed of blastic cells of granulocytic lineage. It is a subtype of acute myeloid leukemia and usually presents as...
Myeloid sarcoma (MS) or chloroma is a localized mass composed of blastic cells of granulocytic lineage. It is a subtype of acute myeloid leukemia and usually presents as a complication of acute myeloid leukemia, myeloid dysplastic syndrome, or myeloproliferative disorder. MS occurs in 2.5-9.1% of patients with AML, precedes the clinical disease, coincidence with the onset or at relapse and in rare conditions, it can occur with no evidence of hematologic disorders. Here, we presented seven cases of MS in unusual locations or with rare presentations at presentation or relapse. We concluded that MS should be considered in the differential diagnosis of any high-grade tumor, especially in a patient with previous history of any myeloid neoplasm.
PubMed: 38076783
DOI: 10.18502/ijhoscr.v17i4.13922 -
Actas Dermo-sifiliograficas Dec 2023
PubMed: 38061459
DOI: 10.1016/j.ad.2023.05.037 -
British Journal of Haematology Feb 2024Mastocytosis constitutes the neoplastic proliferation of mast cells and is broadly classified into systemic mastocytosis (SM), cutaneous mastocytosis and mast cell... (Review)
Review
Mastocytosis constitutes the neoplastic proliferation of mast cells and is broadly classified into systemic mastocytosis (SM), cutaneous mastocytosis and mast cell sarcoma. SM is further partitioned into advanced (AdvSM) and non-advanced (SM-non-Adv) subcategories. AdvSM includes aggressive SM (ASM), SM with an associated haematological neoplasm (SM-AHN) and mast cell leukaemia (MCL). In 2022, two separate expert committees representing the 5th edition of the World Health Organization (WHO5) and the International Consensus (ICC) classification systems submitted revised classification criteria for SM, highlighted by the ICC-proposed incorporation of mast cell cytomorphology in the diagnostic criteria for MCL and myeloid-lineage restriction for the AHN component in SM-AHN. Recent developments in SM also include the introduction of KIT-targeting tyrosine kinase inhibitors (KITi), including midostaurin and avapritinib, both drugs have shown potent activity in reducing mast cell and mutant KIT burden and alleviating mast cell-associated organopathy and mediator symptoms; however, their overall impact on survival or superiority over pre-KITi era treatment options (e.g. cladribine) has not been studied in a controlled setting. In the current review, we provide a summary of recent changes in disease classification and an analysis of recent clinical trials and their impact on our current treatment approach in AdvSM.
Topics: Humans; Mastocytosis, Systemic; Mast Cells; Leukemia, Mast-Cell; Cladribine; Mastocytosis; Proto-Oncogene Proteins c-kit
PubMed: 38054381
DOI: 10.1111/bjh.19245 -
Cureus Oct 2023Myeloid sarcoma (MS) is the occurrence of primitive granulocytic precursors in various extramedullary sites. It can occur as an isolated disease, present concomitantly,...
Myeloid sarcoma (MS) is the occurrence of primitive granulocytic precursors in various extramedullary sites. It can occur as an isolated disease, present concomitantly, or during the relapse of various myeloid neoplasms. A high index of clinical suspicion is warranted owing to its varied clinical presentation, rarity of diagnosis, inadequate immunohistochemical techniques, and challenging treatment. The occurrence of myeloid sarcoma of the testis, either as an independent entity or as an initial presentation of acute myeloid leukemia (AML), is exceedingly uncommon, with only a few documented cases in the literature. In this case study, we present a patient who initially presented with testicular swelling, later identified as MS, and subsequently diagnosed as AML through a bone marrow aspirate. This report discusses the diagnostic difficulties encountered and the available therapeutic options for managing MS.
PubMed: 38022116
DOI: 10.7759/cureus.47715 -
Neurological Research Mar 2024Apolipoprotein B mRNA editing catalytic polypeptide-like (APOBEC) type 3C (A3C) has been identified as a cancer molecular biomarker in the past decade. However, the...
BACKGROUND
Apolipoprotein B mRNA editing catalytic polypeptide-like (APOBEC) type 3C (A3C) has been identified as a cancer molecular biomarker in the past decade. However, the practical role of A3C in lower-grade gliomas (LGGs) in improving the clinical outcome remains unclear. This study aims to discuss the function of A3C in immunotherapy in LGGs.
METHODS
The RNA-Sequencing (RNA-seq) and corresponding clinical data were extracted from UCSC Xena and the results were verified in the Chinese Glioma Genome Atlas (CGGA). Weighted gene co-expression network analysis (WGCNA) was used for screening A3C-related genes. Comprehensive bioinformation analyses were performed and multiple levels of expression, survival rate, and biological functions were assessed to explore the functions of A3C.
RESULTS
A3C expression was significantly higher in LGGs than in normal tissues but lower than in glioblastoma (GBM), indicating its role as an independent prognosis predictor for LGGs. Twenty-eight A3C-related genes were found with WGCNA for unsupervised clustering analysis and three modification patterns with different outcomes and immune cell infiltration were identified. A3C and the A3C score were also correlated with immune cell infiltration and the expression of immune checkpoints. In addition, the A3C score was correlated with increased sensitivity to chemotherapy. Single-cell RNA (scRNA) analysis indicated that A3C most probably expresses on immune cells, such as T cells, B cells and macrophage.
CONCLUSIONS
A3C is an immune-related prognostic biomarker in LGGs. Developing drugs to block A3C could enhance the efficiency of immunotherapy and improve disease survival. A3C: Apolipoprotein B mRNA editing catalytic polypeptide-like (APOBEC) type 3C; LGGs: lower-grade gliomas; CGGA: Chinese Glioma Genome Atlas; WGCNA: Weighted gene co-expression network analysis; scRNA: Single-cell RNA; HGG: higher-grade glioma; OS: overall survival; TME: tumor microenvironment; KM: Kaplan-Meier; PFI: progression-free interval; IDH: isocitrate dehydrogenase; ROC: receiver operating characteristic; GS: gene significance; MM: module membership; TIMER: Tumor IMmune Estimation Resource; GSVA: gene set variation analysis; ssGSEA: single-sample gene-set enrichment analysis; PCA: principal component analysis; AUC: area under ROC curve; HAVCR2: hepatitis A virus cellular receptor 2; PDCD1: programmed cell death 1; PDCD1LG2: PDCD1 ligand 2; PTPRC: protein tyrosine phosphatase receptor type C; ACC: Adrenocortical carcinoma; BLCA: Bladder Urothelial Carcinoma;BRCA: Breast invasive carcinoma; CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma; CHOLCholangiocarcinoma; COADColon adenocarcinoma; DLBC: Lymphoid Neoplasm Diffuse Large B-cell Lymphoma; ESCA: Esophageal carcinoma; GBM: Glioblastoma multiforme; HNSC: Head and Neck squamous cell carcinoma; KICH: Kidney Chromophobe; KIRC: Kidney renal clear cell carcinoma; KIRP: Kidney renal papillary cell carcinoma; LAML: Acute Myeloid Leukemia; LGG: Brain Lower Grade Glioma; LIHC: Liver hepatocellular carcinoma; LUAD: Lung adenocarcinoma; LUSC: Lung squamous cell carcinoma; MESO: Mesothelioma; OV: Ovarian serous cystadenocarcinoma; PAAD: Pancreatic adenocarcinoma; PCPG: Pheochromocytoma and Paraganglioma; PRAD: Prostate adenocarcinoma; READ: Rectum adenocarcinoma; SARC: Sarcoma; SKCM: Skin Cutaneous Melanoma; STAD: Stomach adenocarcinoma; TGCT: Testicular Germ Cell Tumors; THCA: Thyroid carcinoma; THYM: Thymoma; UCEC: Uterine Corpus Endometrial Carcinoma; UCS: Uterine Carcinosarcoma; UVM: Uveal Melanoma.
Topics: Male; Female; Humans; Melanoma; Adenocarcinoma; Carcinoma, Squamous Cell; Carcinoma, Transitional Cell; Uterine Cervical Neoplasms; Pancreatic Neoplasms; Skin Neoplasms; Urinary Bladder Neoplasms; Glioma; Glioblastoma; Biomarkers; Peptides; RNA; RNA, Messenger; Apolipoproteins; Prognosis; Cytidine Deaminase
PubMed: 38007705
DOI: 10.1080/01616412.2023.2287340