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A Novel JAK2 Fusion in T-Cell Prolymphocytic Leukemia T细胞前淋巴细胞白血病中的新型JAK2融合体
IF 3.1 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-06-22 DOI: 10.1002/gcc.23252
Ozgur Can Eren, Robert Stuver, Ting Zhou, Michael Zaidinski, Alison J. Moskowitz, Steven M. Horwitz, Mark D. Ewalt, Yanming Zhang, Megan S. Lim
{"title":"A Novel JAK2 Fusion in T-Cell Prolymphocytic Leukemia","authors":"Ozgur Can Eren,&nbsp;Robert Stuver,&nbsp;Ting Zhou,&nbsp;Michael Zaidinski,&nbsp;Alison J. Moskowitz,&nbsp;Steven M. Horwitz,&nbsp;Mark D. Ewalt,&nbsp;Yanming Zhang,&nbsp;Megan S. Lim","doi":"10.1002/gcc.23252","DOIUrl":"https://doi.org/10.1002/gcc.23252","url":null,"abstract":"<div>\u0000 \u0000 <p>T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive mature T-cell malignancy characterized by marked lymphocytosis, B symptoms, lymphadenopathy, and hepatosplenomegaly. There is no standard treatment approach, and in the absence of an allogeneic transplant, the prognosis remains poor. The disease-defining cytogenetic abnormality in T-PLL is the juxtaposition of the <i>TCL1-</i>family oncogene to the <i>TCR</i> gene enhancer locus primarily due to an inversion of chromosome 14, that is, inv(14). The application of next-generation sequencing technologies led to the discovery of highly recurrent gain-of-function mutations in <i>JAK1/3</i> and <i>STAT5B</i> in over 70% of T-PLL providing opportunities for therapeutic intervention using small molecule inhibitors. Additional genetic mechanisms that may contribute to the pathogenesis of T-PLL remain unknown. Herein we describe the identification of a novel gene fusion <i>SMCHD1::JAK2</i> resulting from a translocation between chromosome 9 and 18 involving <i>SMCHD1</i> exon 45 and <i>JAK2</i> exon 14 (t(9;18)(p24.1;p11.32)(chr9:g.5080171::chr18:g.2793269)), a previously undescribed genetic event in a patient with T-PLL harboring the key disease defining inv(14) resulting in rearrangement of <i>TCL1</i> and <i>TRA/D</i>. In this manuscript, we describe the clinical and genetic features of the patient's disease course over a 25-month post-treatment duration using ruxolitinib and duvelisib.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 6","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma 在复发性和侵袭性泌尿道腺癌中发现罕见的 EIF3E::RSPO2 融合。
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-06-17 DOI: 10.1002/gcc.23250
Prerana Jha, Ruma Pengal, Minit Shah, Pooja Mahesh Kulkarni, Rohit Mishra, Nandini Menon, Narendranath Vikkath, Santosh Menon, Venkataramanan Ramachandran, Gagan Prakash, Vanita Noronha, Kumar Prabhash, Prashant Kumar
{"title":"Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma","authors":"Prerana Jha,&nbsp;Ruma Pengal,&nbsp;Minit Shah,&nbsp;Pooja Mahesh Kulkarni,&nbsp;Rohit Mishra,&nbsp;Nandini Menon,&nbsp;Narendranath Vikkath,&nbsp;Santosh Menon,&nbsp;Venkataramanan Ramachandran,&nbsp;Gagan Prakash,&nbsp;Vanita Noronha,&nbsp;Kumar Prabhash,&nbsp;Prashant Kumar","doi":"10.1002/gcc.23250","DOIUrl":"10.1002/gcc.23250","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Urachal cancer (UC) is a rare genitourinary malignancy arising from the urachus, an embryonic remnant of the placental allantois. Its diagnosis remains ambiguous with late-stage cancer detection and represents a highly aggressive disease. Due to its rarity, there is no clear consensus on molecular signatures and appropriate clinical management of UC.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Report</h3>\u0000 \u0000 <p>We report a 45-year-old man with recurrent urachal adenocarcinoma (UA) treated with cystectomies, chemotherapy, and radiotherapy. The patient initially presented with hematuria and abdominal pain. Imaging revealed a nodular mass arising from the superior wall of the urinary bladder and extending to the urachus. Biopsy results suggested moderately differentiated UA with muscle layer involvement. The tumor recurred after 20 months, following which, another partial cystectomy was performed. Repeat progression was noted indicating highly aggressive disease. Targeted next-generation sequencing revealed the presence of <i>EIF3E</i>::<i>RSPO2</i> fusion, along with <i>BRAF</i> and <i>TP53</i> mutations, and <i>EGFR</i> gene amplification. This is the first case reporting the presence of this fusion in UA. Palliative medication and radiotherapy were administered to manage the disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Current treatment modality of surgery may be effective in the early stages of recurrent UA; however, a standard chemotherapy and radiotherapy regimen is yet to be determined for advanced stages. The detection of the rare <i>EIF3E</i>::<i>RSPO2</i> fusion warrants further studies on the significance of this variant as a possible therapeutic target for improved clinical management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 6","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion 通过识别复发性 NFIA::CBFA2T3 融合基因确诊小儿红细胞肉瘤
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-06-17 DOI: 10.1002/gcc.23251
Obianuju Mercy Anelo, Jing Ma, Jennifer L. Neary, Selene C. Koo, Hiroto Inaba, Soniya N. Pinto, Nga Thi Nguyen, Thach Ngoc Hoang, Lan Ngoc Bui, Jeffery M. Klco, Gabriela Gheorghe, Patrick R. Blackburn
{"title":"Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion","authors":"Obianuju Mercy Anelo,&nbsp;Jing Ma,&nbsp;Jennifer L. Neary,&nbsp;Selene C. Koo,&nbsp;Hiroto Inaba,&nbsp;Soniya N. Pinto,&nbsp;Nga Thi Nguyen,&nbsp;Thach Ngoc Hoang,&nbsp;Lan Ngoc Bui,&nbsp;Jeffery M. Klco,&nbsp;Gabriela Gheorghe,&nbsp;Patrick R. Blackburn","doi":"10.1002/gcc.23251","DOIUrl":"10.1002/gcc.23251","url":null,"abstract":"<div>\u0000 \u0000 <p>Erythroid sarcoma (ES) is exceedingly rare in the pediatric population with only a handful of reports of de novo cases, mostly occurring in the central nervous system (CNS) or orbit. It is clinically and pathologically challenging and can masquerade as a nonhematopoietic small round blue cell tumor. Clinical presentation of ES without bone marrow involvement makes diagnosis particularly difficult. We describe a 22-month-old female with ES who presented with a 2-cm mass involving the left parotid region and CNS. The presence of crush/fixation artifact from the initial biopsy made definitive classification of this highly proliferative and malignant neoplasm challenging despite an extensive immunohistochemical workup. Molecular studies including RNA-sequencing revealed a <i>NFIA::CBFA2T3</i> fusion. This fusion has been identified in several cases of de novo acute erythroid leukemia (AEL) and gene expression analysis comparing this case to other AELs revealed a similar transcriptional profile. Given the diagnostically challenging nature of this tumor, clinical RNA-sequencing was essential for establishing a diagnosis.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 6","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor 伴有 SOX10::PLAG1 融合的钙化纺锤形细胞软组织肿瘤:形态独特且可能是新型软组织肿瘤的病例报告。
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-06-17 DOI: 10.1002/gcc.23249
Kemal Kosemehmetoglu, Elaheh Mosaieby, Petr Šteiner, Tomáš Vaněček, Vira Baranovska-Andrigo, Michael Michal
{"title":"Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor","authors":"Kemal Kosemehmetoglu,&nbsp;Elaheh Mosaieby,&nbsp;Petr Šteiner,&nbsp;Tomáš Vaněček,&nbsp;Vira Baranovska-Andrigo,&nbsp;Michael Michal","doi":"10.1002/gcc.23249","DOIUrl":"10.1002/gcc.23249","url":null,"abstract":"<div>\u0000 \u0000 <p>The widespread use of advanced molecular techniques has led to the identification of several tumor types with <i>PLAG1</i> gene fusions some of which also affect the skin and soft tissues. Herein, we present a 38-year-old female with a subcutaneous tumor affecting her forearm, which does not seem to fit into any currently recognized entity. It was a well-circumscribed tumor measuring 6 × 4,5 × 4 cm. It had a thick capsule composed of bland spindle cells forming palisades and Verocay body-like structures within a myxocollagenous background. Scattered calcifications were dispersed throughout the lesion. No cytological atypia, mitotic activity, or necrosis were present. Targeted NGS revealed a <i>SOX10::PLAG1</i> fusion and fluorescent in situ hybridization confirmed the presence of <i>PLAG1</i> gene rearrangement. The neoplastic cells showed a diffuse immunohistochemical expression of S100, SOX10, and PLAG1, as well as patchy desmin and CD34 positivity. The methylation profile of this tumor did not match any other entity covered by the DKFZ sarcoma classifier and apart from the gain of chromosome 12, the copy number profile was normal. The tumor was completely excised, and the patient has been free of disease for 4 years since the excision. While more cases are needed to confirm this tumor as a distinct entity, we propose a provisional name “<i>SOX10::PLAG1</i>-rearranged calcifying spindle cell tumor.”</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 6","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A challenging case of aggressive composite hemangioendothelioma with neuroendocrine differentiation and PTBP1::MAML2 fusion 一例具有神经内分泌分化和 PTBP1::MAML2 融合的侵袭性复合血管内皮瘤。
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-06-11 DOI: 10.1002/gcc.23245
Christophe Bontoux, Anna Vigier, Thibaud Valentin, Charlotte Syrykh, Aurore Siegfried, Céline Basset, Jean Mourlanette, Hadrien Reboul, Solène Evrard, Anne Gomez-Mascard
{"title":"A challenging case of aggressive composite hemangioendothelioma with neuroendocrine differentiation and PTBP1::MAML2 fusion","authors":"Christophe Bontoux,&nbsp;Anna Vigier,&nbsp;Thibaud Valentin,&nbsp;Charlotte Syrykh,&nbsp;Aurore Siegfried,&nbsp;Céline Basset,&nbsp;Jean Mourlanette,&nbsp;Hadrien Reboul,&nbsp;Solène Evrard,&nbsp;Anne Gomez-Mascard","doi":"10.1002/gcc.23245","DOIUrl":"10.1002/gcc.23245","url":null,"abstract":"","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 6","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141305806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Related mechanisms, current treatments, and new perspectives in meningioma 脑膜瘤的相关机制、当前治疗方法和新视角。
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-05-27 DOI: 10.1002/gcc.23248
Gizem Inetas-Yengin, Omer Faruk Bayrak
{"title":"Related mechanisms, current treatments, and new perspectives in meningioma","authors":"Gizem Inetas-Yengin,&nbsp;Omer Faruk Bayrak","doi":"10.1002/gcc.23248","DOIUrl":"10.1002/gcc.23248","url":null,"abstract":"<p>Meningiomas are non-glial tumors that are the most common primary brain tumors in adults. Although meningioma can possibly be cured with surgical excision, variations in atypical/anaplastic meningioma have a high recurrence rate and a poor prognosis. As a result, it is critical to develop novel therapeutic options for high-grade meningiomas. This review highlights the current histology of meningiomas, prevalent genetic and molecular changes, and the most extensively researched signaling pathways and therapies in meningiomas. It also reviews current clinical studies and novel meningioma treatments, including immunotherapy, microRNAs, cancer stem cell methods, and targeted interventions within the glycolysis pathway. Through the examination of the complex landscape of meningioma biology and the highlighting of promising therapeutic pathways, this review opens the way for future research efforts aimed at improving patient outcomes in this prevalent intracranial tumor entity.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 5","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23248","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Superficial fibromas with CTNNB1 mutation 带有 CTNNB1 基因突变的浅表纤维瘤
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-05-17 DOI: 10.1002/gcc.23247
Anna Kuntze, R. R. Meliß, L. Ermert, K. D. Falkenberg, A. C. Puller, M. Trautmann, W. Hartmann, E. Wardelmann
{"title":"Superficial fibromas with CTNNB1 mutation","authors":"Anna Kuntze,&nbsp;R. R. Meliß,&nbsp;L. Ermert,&nbsp;K. D. Falkenberg,&nbsp;A. C. Puller,&nbsp;M. Trautmann,&nbsp;W. Hartmann,&nbsp;E. Wardelmann","doi":"10.1002/gcc.23247","DOIUrl":"https://doi.org/10.1002/gcc.23247","url":null,"abstract":"<p>Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be indicators of an underlying syndrome. Among the best-known entities of superficial fibromas is Gardner fibroma, a plaque-like benign tumor, which is associated with <i>APC</i> germline mutations and occurs in patients with familial adenomatosis polyposis (Gardner syndrome). Affected patients also have an increased risk to develop desmoid fibromatosis (DTF), a locally aggressive neoplasm of the deep soft tissue highly prone to local recurrences. Although a minority of DTFs occur in the syndromic context and harbor <i>APC</i> germline mutations, most frequently their underlying molecular aberration is a sporadic mutation in Exon 3 of the <i>CTNNB1</i> gene. Up to date, a non-syndromic equivalent to Gardner fibroma carrying a <i>CTNNB1</i> mutation has not been defined. Here, we present two cases of (sub-)cutaneous tumors with a hypocellular and collagen-rich Gardner fibroma-like appearance and pathogenic, somatic <i>CTNNB1</i> mutations. We aim to differentiate these tumors from other fibromas according to their histological appearance, immunohistochemical staining profile and underlying somatic <i>CTNNB1</i> mutations. Furthermore, we distinguish them from locally aggressive desmoid fibromatosis regarding their biological behavior, prognosis and indicated therapeutic strategies. Consequently, we call them <i>CTNNB1</i>-mutated superficial fibromas as a sporadic counterpart lesion to syndromic Gardner fibromas.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 5","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140952715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploration of poly (ADP-ribose) polymerase inhibitor resistance in the treatment of BRCA1/2-mutated cancer 探索治疗 BRCA1/2 基因突变癌症的多(ADP 核糖)聚合酶抑制剂耐药性。
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-05-15 DOI: 10.1002/gcc.23243
Shuyi Wu, Xuanjie Yao, Weiwei Sun, Kaitao Jiang, Jie Hao
{"title":"Exploration of poly (ADP-ribose) polymerase inhibitor resistance in the treatment of BRCA1/2-mutated cancer","authors":"Shuyi Wu,&nbsp;Xuanjie Yao,&nbsp;Weiwei Sun,&nbsp;Kaitao Jiang,&nbsp;Jie Hao","doi":"10.1002/gcc.23243","DOIUrl":"10.1002/gcc.23243","url":null,"abstract":"<p>Breast cancer susceptibility 1/2 (BRCA1/2) genes play a crucial role in DNA damage repair, yet mutations in these genes increase the susceptibility to tumorigenesis. Exploiting the synthetic lethality mechanism between BRCA1/2 mutations and poly(ADP-ribose) polymerase (PARP) inhibition has led to the development and clinical approval of PARP inhibitor (PARPi), representing a milestone in targeted therapy for BRCA1/2 mutant tumors. This approach has paved the way for leveraging synthetic lethality in tumor treatment strategies. Despite the initial success of PARPis, resistance to these agents diminishes their efficacy in BRCA1/2-mutant tumors. Investigations into PARPi resistance have identified replication fork stability and homologous recombination repair as key factors sensitive to PARPis. Additionally, studies suggest that replication gaps may also confer sensitivity to PARPis. Moreover, emerging evidence indicates a correlation between PARPi resistance and cisplatin resistance, suggesting a potential overlap in the mechanisms underlying resistance to both agents. Given these findings, it is imperative to explore the interplay between replication gaps and PARPi resistance, particularly in the context of platinum resistance. Understanding the impact of replication gaps on PARPi resistance may offer insights into novel therapeutic strategies to overcome resistance mechanisms and enhance the efficacy of targeted therapies in BRCA1/2-mutant tumors.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 5","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140921870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Uncovering the WWTR1::NCOA2 Gene fusion in low-grade myoepithelial-rich neoplasm with HMGA2 expression: A case report 在富含 HMGA2 表达的低级别肌上皮肿瘤中发现 WWTR1::NCOA2 基因融合:病例报告。
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-05-15 DOI: 10.1002/gcc.23244
Ziyad Alsugair, Daniel Pissaloux, Françoise Descotes, Franck Tirode, Jonathan Lopez, Jimmy Perrot, Ariane Lapierre, Maxime Fieux, Pierre Philouze, Anne Champagnac, Mihaela Onea, Nazim Benzerdjeb
{"title":"Uncovering the WWTR1::NCOA2 Gene fusion in low-grade myoepithelial-rich neoplasm with HMGA2 expression: A case report","authors":"Ziyad Alsugair,&nbsp;Daniel Pissaloux,&nbsp;Françoise Descotes,&nbsp;Franck Tirode,&nbsp;Jonathan Lopez,&nbsp;Jimmy Perrot,&nbsp;Ariane Lapierre,&nbsp;Maxime Fieux,&nbsp;Pierre Philouze,&nbsp;Anne Champagnac,&nbsp;Mihaela Onea,&nbsp;Nazim Benzerdjeb","doi":"10.1002/gcc.23244","DOIUrl":"10.1002/gcc.23244","url":null,"abstract":"<p>We describe a case of a pleomorphic adenoma (PA) arising from the para-tracheal accessory salivary gland in a 44-year-old male harboring a novel <i>WWTR1::NCOA2</i> gene fusion. To our knowledge, this novel gene fusion has not been described previously in salivary gland tumors. The patient presented with hoarseness of voice. The radiological exam revealed a mass in the upper third of the trachea involving the larynx. Histologically, the tumor consisted of bland-looking monocellular eosinophilic epithelial cells arranged in cords and sheets separated by thin fibrous stroma, focally forming a pseudo-tubular pattern. In immunohistochemistry, the tumor cells demonstrated positivity for CK7, PS100, SOX10, and HMGA2; and negativity for CK5/6, p40 p63, and PLAG1. In addition, the clustering analysis clearly demonstrates a clustering of tumors within the PA group. In addition to reporting this novel fusion in the PA spectrum, we discuss the relevant differential diagnoses and briefly review of <i>NCOA2</i> and <i>WWTR1</i> gene functions in normal and neoplastic contexts.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 5","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23244","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140921883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing 通过纳米孔测序检测 CD63::PRKCD 融合基因,确诊为血管肉瘤的转移性动脉瘤皮纤维瘤。
IF 3.7 2区 医学
Genes, Chromosomes & Cancer Pub Date : 2024-05-15 DOI: 10.1002/gcc.23246
Naoki Takeda, Naohiro Makise, Jason Lin, Hajime Kageyama, Mariko Oikawa, Takahiro Sugiyama, Hidetada Kawana, Akinobu Araki, Toshinori Tuskanishi, Hideyuki Kinoshita, Yoko Hagiwara, Hiroto Kamoda, Toru Motoi, Tsukasa Yonemoto, Masahito Kawazu, Makiko Itami
{"title":"Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing","authors":"Naoki Takeda,&nbsp;Naohiro Makise,&nbsp;Jason Lin,&nbsp;Hajime Kageyama,&nbsp;Mariko Oikawa,&nbsp;Takahiro Sugiyama,&nbsp;Hidetada Kawana,&nbsp;Akinobu Araki,&nbsp;Toshinori Tuskanishi,&nbsp;Hideyuki Kinoshita,&nbsp;Yoko Hagiwara,&nbsp;Hiroto Kamoda,&nbsp;Toru Motoi,&nbsp;Tsukasa Yonemoto,&nbsp;Masahito Kawazu,&nbsp;Makiko Itami","doi":"10.1002/gcc.23246","DOIUrl":"10.1002/gcc.23246","url":null,"abstract":"<p>Dermatofibroma (DF) is a benign tumor that forms pedunculated lesions ranging in size from a few millimeters to 2 cm, usually affecting the extremities and trunks of young adults. Histopathologically, DF is characterized by the storiform proliferation of monomorphic fibroblast-like spindle cells. In addition to neoplastic cells, secondary elements such as foamy histiocytes, Touton-type giant cells, lymphoplasmacytes, and epidermal hyperplasia are characteristic histological features. Several histological variants, including atypical, cellular, aneurysmal, and lipidized variants, have been reported; cases with variant histologies are sometimes misdiagnosed as sarcomas. We present a case of metastasizing aneurysmal DF that was initially diagnosed as an angiosarcoma on biopsy. A 26-year-old woman was referred to our hospital with a gradually enlarging subcutaneous mass in her lower left leg. Positron emission tomography-computed tomography revealed high fluorodeoxyglucose uptake not only in the tumor but also in the left inguinal region. On biopsy, ERG and CD31-positive atypical spindle cells proliferated in slit-like spaces with extravasation, leading to the diagnosis of angiosarcoma. Histology of the wide-resection specimen was consistent with DF, and lymph node metastasis was also observed. Nanopore DNA sequencing detected <i>CD63::PRKCD</i> fusion and copy number gain, although CD63 was not included in the target region of adaptive sampling. This report highlights the importance of recognizing the unusual clinical, radiological, and pathological features of DF to avoid misdiagnosis, and the potential diagnostic utility of nanopore sequencer.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 5","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140921882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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