journal
https://read.qxmd.com/read/38087879/the-impact-of-an-additional-copy-of-chromosome-21-in-b-cell-precursor-acute-lymphoblastic-leukemia
#1
JOURNAL ARTICLE
Femke M Hormann, Eva J Mooij, Marieke van de Mheen, H Berna Beverloo, Monique L den Boer, Judith M Boer
A common finding in pediatric B-cell precursor acute lymphoblastic leukemia (BCPALL) is that chromosome 21 is never lost and an extra chromosome 21 is often gained. This implies an important role for chromosome 21 in the pathobiology of BCPALL, emphasized by the increased risk of BCPALL in children with Down syndrome. However, model systems of chromosome 21 gain are lacking. We therefore developed a BCPALL cell line (Nalm-6, DUX4-rearranged) with an additional chromosome 21 by means of microcell-mediated chromosome transfer...
December 12, 2023: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38050902/expanding-the-molecular-landscape-of-undifferentiated-sarcomas-of-bone-with-a-novel-ewsr1-ssx3-gene-fusion
#2
JOURNAL ARTICLE
Caterina Fumagalli, Ruth Orellana, Malena Ferré, Allan Gonzalez, Lluis Catasús, Tania Vázquez, Ana Sebio, Antonio López-Pousa, Jaume Llauger, Ana Peiró, Cristina R Antonescu
Undifferentiated sarcomas characterized by a primitive monomorphic round to spindle cell phenotype and often non-specific immunoprofile remain difficult to subclassify outside molecular analysis. The increased application of RNA sequencing in clinical practice led to significant advances and discoveries of novel gene fusions that furthered our understanding and refined classification of otherwise undifferentiated neoplasms. In this study, we report an undifferentiated round to spindle cell sarcoma arising in the femur of a 34-year-old female...
December 5, 2023: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38380774/epithelioid-hemangioendothelioma-ehe-with-wwtr1-tfe3-gene-fusion-a-novel-fusion-variant
#3
JOURNAL ARTICLE
Shuo Li, Josephine K Dermawan, Caleb N Seavey, Shuang Ma, Cristina R Antonescu, Brian P Rubin
Epithelioid hemangioendothelioma (EHE) is a rare endothelial sarcoma associated with a high incidence of metastases and for which there are no standard treatment options. Based on disease-defining mutations, most EHEs are classified into two subtypes: WWTR1::CAMTA1-fused EHE or YAP1::TFE3-fused EHE. However, rare non-canonical fusions have been identified in clinical samples of EHE cases and are challenging to classify. In this study, we report the identification of a novel WWTR1::TFE3 fusion variant in an EHE patient using targeted RNA sequencing...
February 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38380728/cd30-expression-in-an-emerging-group-of-mesenchymal-spindle-cell-neoplasms-with-alk-fusion-detected-by-flow-cytometry-and-immunohistochemistry
#4
JOURNAL ARTICLE
Akari Iwakoshi, Hajime Kikui, Ryosuke Nakashima, Yuya Goto, Daisuke Ichikawa, Eiichi Sasaki, Masahiro Sekimizu, Hiroyoshi Hattori, Naoko Maeda
An emerging group of spindle cell neoplasms harboring fusions involving NTRK or non-NTRK kinase genes often share characteristic S100 and/or CD34 expression; however, the diagnostic utility of immunohistochemical stains is not well established in this family owing to their lack of specificity. Recently, CD30 expression in spindle cell neoplasms with kinase gene fusions, such as NTRK, BRAF, RAF1, and RET, has been increasingly identified. We herein report a 10-year-old girl with high-grade spindle cell sarcoma of the neck...
February 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38340030/pediatric-ncoa3-rearranged-low-grade-fibroblastic-tumor-with-nuclear-beta-catenin-immunoreactivity
#5
LETTER
Faizan Malik, Larissa V Furtado, Mohammad K Eldomery, Zonggao Shi, Selene C Koo
No abstract text is available yet for this article.
February 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38340027/near-complete-remission-of-an-inoperable-pancreatic-acinar-cell-carcinoma-after-braf-mek-inhibitor-treatment-a-case-report-and-review-of-the-literature
#6
JOURNAL ARTICLE
Lennart von Fritsch, Nikolas von Bubnoff, Klaus Weber, Jutta Kirfel, Cleopatra Schreiber, Tobias Keck, Ulrich Wellner
INTRODUCTION: Pancreatic acinar cell carcinomas are rare malignant neoplasms. High-quality evidence about the best treatment strategy is lacking. We present the case of a 52-year-old male with a BRAFV600E -mutated PACC who experienced a complete remission after chemotherapy with BRAF-/MEK-inhibitors. CASE: The patient presented with upper abdomen pain, night sweat, and weight loss. CT scan showed a pancreatic tumor extending from the pancreas head to body. Histological workup identified an acinar cell carcinoma...
February 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38169142/polymorphisms-of-the-pd-l1-gene-3-untranslated-region-are-associated-with-the-expression-of-pd-l1-in-non-small-cell-lung-cancer
#7
JOURNAL ARTICLE
Yoshihito Ohhara, Utano Tomaru, Ichiro Kinoshita, Kanako C Hatanaka, Takuro Noguchi, Yutaka Hatanaka, Toraji Amono, Yoshihiro Matsuno, Hirotoshi Dosaka-Akita
Recent results show that polymorphisms of programmed death ligand 1 (PD-L1, also known as CD274 or B7-H1) might be used as a possible marker for effectiveness of chemotherapy and cancer risk. However, the effect of PD-L1 gene variations on PD-L1 expression remain unclear. Given the post-transcriptional machinery in tumor PD-L1 expression, we investigated single nucleotide polymorphisms (SNPs) in the 3'-untranslated region (3'-UTR) of the PD-L1 gene, rs4143815 and rs4742098, using formalin-fixed paraffin-embedded sections of 154 patients with non-small cell lung cancers (NSCLCs)...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38050922/gene-amplification-in-neoplasia-a-cytogenetic-survey-of-80%C3%A2-131-cases
#8
JOURNAL ARTICLE
Nils Mandahl, Fredrik Mertens, Felix Mitelman
Gene amplification is a crucial process in cancer development, leading to the overexpression of oncogenes. It manifests cytogenetically as extrachromosomal double minutes (dmin), homogeneously staining regions (hsr), or ring chromosomes (r). This study investigates the prevalence and distribution of these amplification markers in a survey of 80 131 neoplasms spanning hematologic disorders, and benign and malignant solid tumors. The study reveals distinct variations in the frequency of dmin, hsr, and r among different tumor types...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37950638/rethinking-cancer-initiation-the-role-of-large-scale-mutational-events
#9
JOURNAL ARTICLE
Amil Shah
Cancer initiation is revisited in light of recent discoveries in cancer pathogenesis. Of note is the detection of mutated cancer genes in benign conditions. More significantly, somatic clones, which harbor mutations in cancer genes, arise in normal tissues from early development through adulthood, but seldom do they transform into cancer. Further, clustered mutational events-kataegis, chromothripsis and chromoplexy-are widespread in cancer, generating point mutations and chromosomal rearrangements in a single cellular catastrophe...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37905771/a-case-of-spindle-cell-rhabdomyosarcoma-with-a-zfp64-ncoa3-fusion
#10
LETTER
Ken-Ichi Yoshida, Yoji Kukita, Harumi Nakamura, Toru Wakamatsu, Keiichiro Honma, Toshinari Yagi
No abstract text is available yet for this article.
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37870842/myxoid-epithelioid-smooth-muscle-tumor-of-the-vulva-a-distinct-entity-with-mef2d-ncoa2-gene-fusion
#11
JOURNAL ARTICLE
Laura M Warmke, Amin Mustafa, Ying S Zou, Jessica L Davis, Thomas M Ulbright, Sheila E Segura
Smooth muscle tumors are the most common mesenchymal tumors of the female genital tract, including the vulva. Since vulvar smooth muscle tumors are rare, our understanding of them compared to their uterine counterparts continues to evolve. Herein, we present two cases of morphologically distinct myxoid epithelioid smooth muscle tumors of the vulva with novel MEF2D::NCOA2 gene fusion. The tumors involved 24 and 37-year-old women. Both tumors presented as palpable vulvar masses that were circumscribed, measuring 2...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37819540/when-molecular-outsmarts-morphology-malignant-ossifying-fibromyxoid-tumors-masquerading-as-osteosarcomas-including-a-novel-crebzf-phf1-fusion
#12
JOURNAL ARTICLE
Aarti E Sharma, Josephine K Dermawan, Andy E Sherrod, Shefali Chopra, Robert G Maki, Cristina R Antonescu
We present two cases of malignant ossifying fibromyxoid tumor (OFMT) which eluded diagnosis due to compelling clinicopathologic mimicry, compounded by similarly elusive underlying molecular drivers. The first is of a clavicle mass in a 69 year-old female, which histologically showed an infiltrative nested and trabeculated proliferation of monomorphic cells giving rise to scattered spicules of immature woven bone. Excepting SATB2 positivity, the lesion showed an inconclusive immunoprofile which along with negative PHF1 FISH led to an initial diagnosis of high-grade osteosarcoma...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37782551/kinase-fusion-positive-intra-osseous-spindle-cell-tumors-a-series-of-eight-cases-with-review-of-the-literature
#13
REVIEW
Albert J H Suurmeijer, Bin Xu, Dianne Torrence, Brendan C Dickson, Cristina R Antonescu
Mesenchymal spindle cell tumors with kinase fusions, often presenting in superficial or deep soft tissue locations, may rarely occur in bone. Herein, we describe the clinicopathologic and molecular data of eight bone tumors characterized by various kinase fusions from our files and incorporate the findings with the previously reported seven cases, mainly as single case reports. In the current series all but one of the patients were young children or teenagers, with an age range from newborn to 59 years (mean 19 years)...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37724934/novel-atg7-raf1-gene-fusion-in-malignant-glomus-tumor
#14
JOURNAL ARTICLE
Saba Shafi, Dan Jones, O Hans Iwenofu, Swati Satturwar
Glomus tumors are classified as members of the perivascular myoid family of tumors. Nearly half of these show NOTCH-gene fusions and a smaller subset has BRAF V600E mutations. Here, we report a novel ATG7::RAF1 fusion in malignant glomus tumor occurring in a 40-year-old female which has not been reported in the malignant glomus tumor before. A 40-year-old female presented with a persistent lateral heel pain and an increase in the size of a mass along the lateral ankle for nearly 10 years. Resected specimen showed a well circumscribed lesion composed of spindled and epithelioid cells with moderate nuclear atypia and mitotic figures (7/10 high-power fields) including atypical forms without any necrosis, lymphovascular, or perineural invasion...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37698344/a-novel-hmga2-kitlg-fusion-in-a-dedifferentiated-liposarcoma-with-amplification-of-mdm2-and-hmga2
#15
JOURNAL ARTICLE
Shishan Zhou, Changliang Zhang, Zhipeng Zhang, Yongbin Hu, Lina Zhao, Wentao Hu, Si Chen, Bin Li, Sheng Xiao
High-mobility group AT-hook 2 (HMGA2) is rearranged in various types of mesenchymal tumors, particularly lipomas. HMGA2 is also co-amplified with mouse double minute 2 (MDM2) in well-differentiated liposarcoma/dedifferentiated liposarcoma (WDLPS/DDLPS). We report a case of relapsed DDLPS with a novel in-frame fusion between HMGA2 and KITLG, which encodes the ligand for KIT kinase, a critical protein involved in gametogenesis, hematopoiesis, and melanogenesis. The HMGA2 breakpoint is in intron 3, a commonly observed location for HMGA2 rearrangements, while the KITLG breakpoint is in intron 2, leading to a fusion protein that contains almost the entire coding sequence of KITLG...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37658696/untying-the-gordian-knot-of-composite-hemangioendothelioma-discovery-of-novel-fusions
#16
JOURNAL ARTICLE
Konstantinos Linos, Josephine K Dermawan, Melissa Pulitzer, Meera Hameed, Narasimhan P Agaram, Abbas Agaimy, Cristina R Antonescu
Composite hemangioendothelioma is a rare, locally aggressive, and rarely metastasizing vascular neoplasm which affects both children and adults. Recently, a number of gene fusions including YAP1::MAML2, PTBP1::MAML2, and EPC1::PHC2 have been detected in a small subset of cases with or without neuroendocrine expression. Herein, we present four additional cases with novel in-frame fusions. The cohort comprises two females and two males with a wide age range at diagnosis (24-80 years). Two tumors were deep involving the right brachial plexus and mediastinum, while the remaining were superficial (right plantar foot and abdominal wall)...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37421230/gene-fusions-during-the-early-evolution-of-mesothelioma-correlate-with-impaired-dna-repair-and-hippo-pathways
#17
JOURNAL ARTICLE
Maymun Jama, Min Zhang, Charlotte Poile, Apostolos Nakas, Annabel Sharkey, Joanna Dzialo, Alan Dawson, Kudazyi Kutywayo, Dean A Fennell, Edward J Hollox
Malignant pleural mesothelioma (MPM), a rare cancer a long latency period (up to 40 years) between asbestos exposure and disease presentation. The mechanisms coupling asbestos to recurrent somatic alterations are poorly defined. Gene fusions arising through genomic instability may create novel drivers during early MPM evolution. We explored the gene fusions that occurred early in the evolutionary history of the tumor. We conducted multiregional whole exome sequencing (WES) of 106 samples from 20 patients undergoing pleurectomy decortication and identified 24 clonal nonrecurrent gene fusions, three of which were novel (FMO9P-OR2W5, GBA3, and SP9)...
January 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37732625/idh-negative-chondrosarcoma-with-metachronous-dedifferentiation-only-in-the-metastatic-site-a-diagnostic-pitfall
#18
JOURNAL ARTICLE
Tetsuya Sekita, Akihiko Yoshida, Akira Kawai, Hitoshi Ichikawa, Eisuke Kobayashi
Dedifferentiated chondrosarcoma is a subtype of chondrosarcoma with a biphasic histological appearance of a chondrosarcoma component transitioning to a high-grade, noncartilaginous sarcoma. It is particularly difficult to confirm the diagnosis when a sarcoma lacking cartilaginous component occurs at a distant location from the primary lesion. The patient was a 72-year-old woman with multiple lesions in the pelvis, lungs, and liver, 18 months after resection of grade 2 central chondrosarcoma of the sternum...
December 2023: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37706559/dicer1-mutated-rhabdomyosarcoma-of-the-ovary-with-teratoid-features
#19
JOURNAL ARTICLE
Vincent Lethongsavarn, Pierre Vieille, Jeanos Kikweta Makhama, Rihab Azmani, Webert Lafrance, Pierre Khneisser, Nathalene Truffaut, Melissa Alame, Catherine Genestie, Nathalie Gaspar, Abdoulaye Diedhiou, Sabrina Croce, François Le Loarer
DICER1-mutated rhabdomyosarcoma is a rare, emerging entity with a predilection for the gynecologic and genitourinary tracts. We report here a case of DICER1-mutated rhabdomyosarcoma of the ovary in a 14 years old girl which displayed interspersed mature teratoid glands, neuroectodermal rosettes and immature blastematous-like tubes. Morphologically the sarcomatous component predominated, corresponding to a high grade spindle cell rhabdomyosarcoma with botryoid features. Islets of cartilage were present...
December 2023: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/37530573/changes-on-chromosome-11p15-5-as-specific-marker-for-embryonal-rhabdomyosarcoma
#20
JOURNAL ARTICLE
Ales Vicha, Pavla Jencova, Daniela Novakova-Kodetova, Lucie Stolova, Dagmar Voriskova, Kristyna Vyletalova, Petr Broz, Eva Drahokoupilova, Anasuya Guha, Marie Kopecká, Lenka Krskova
Rhabdomyosarcomas (RMS) constitute a heterogeneous spectrum of tumors with respect to clinical behavior and tumor morphology. The paternal uniparental disomy (pUPD) of 11p15.5 is a molecular change described mainly in embryonal RMS. In addition to LOH, UPD, the MLPA technique (ME030kit) also determines copy number variants and methylation of H19 and KCNQ1OT1 genes, which have not been systematically investigated in RMS. All 127 RMS tumors were divided by histology and PAX status into four groups, pleomorphic histology (n = 2); alveolar RMS PAX fusion-positive (PAX+; n = 39); embryonal RMS (n = 70) and fusion-negative RMS with alveolar pattern (PAX-RMS-AP; n = 16)...
December 2023: Genes, Chromosomes & Cancer
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