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B-Lymphoblastic Leukemia Presenting with an Isoderivative Philadelphia Chromosome—A Rare Case Report and Review of Literature b淋巴母细胞白血病表现为同衍生费城染色体——罕见病例报告及文献复习
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-07-05 DOI: 10.1055/s-0043-1770094
Neelum Mansoor, S. Maqsood, Syeda Ambreen Zehra, Imad Bakri
Abstract The Philadelphia chromosome is seen in 5% of pediatric and 25 to 50% of adult cases of acute lymphoblastic leukemia (ALL). It is linked to aggressive illness with a dismal prognosis. Additional chromosomal abnormalities are not prevalent with translocation 9;22; nevertheless, isochromosome derivative [ider(22)] with this translocation is rarely recorded in the literature. This is the third instance of ider(22) in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Bone marrow chromosome analysis by G-banding showed 46,XX,t(9;22)(q34;q11.2)[6]/46,XX,ider(22)(q10)t(9;22)(q34;q11.2)[14]. Fluorescence in situ hybridization (FISH) analysis for BCR::ABL1 fusion showed 40% of interphase cells with two and 35% with three fusion signals that were in concordance with the karyotype. The patient was categorized as National Cancer Institute (NCI) high-risk (HR) and started with HR chemotherapy according to Children's Oncology Group (COG) protocol. Postinduction remission assessment by flow cytometry showed 2.6% measurable residual disease. The case highlights significance of cytogenetic analysis despite availability of advanced techniques like FISH. The prognostic significance of concurrent ider22(q10) with t(9;22) is yet to be explored.
费城染色体见于5%的儿童和25 - 50%的成人急性淋巴细胞白血病(ALL)病例。它与预后不佳的侵袭性疾病有关。其他染色体异常在易位中并不普遍9;22;然而,具有这种易位的同染色体衍生物[ider(22)]在文献中很少有记录。这是儿童b细胞急性淋巴细胞白血病(B-ALL)的第三例ider(22)。骨髓染色体g显带分析显示46,XX,t(9;22)(q34;q11.2)[6]/46,XX,ider(22)(q10)t(9;22)(q34;q11.2)[6]。荧光原位杂交(FISH)分析显示,40%的间期细胞具有2个和35%的间期细胞具有3个与核型一致的融合信号。患者被归类为国家癌症研究所(NCI)高危(HR),并根据儿童肿瘤组(COG)方案开始HR化疗。诱导后缓解评估流式细胞术显示2.6%可测量的残留疾病。该病例强调了细胞遗传学分析的重要性,尽管有像FISH这样的先进技术。与t(9;22)同时发生的ider22(q10)的预后意义尚待探讨。
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引用次数: 0
Plasma Cell Neoplasm with Clear Cell Morphology—A Diagnostic Dilemma 细胞形态清晰的浆细胞肿瘤——诊断难题
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-07-05 DOI: 10.1055/s-0043-1770786
Sudipta Naskar, Rekha V. Kumar
Apart from their usual morphology (eccentrically placed round to ovoid nuclei with cart-wheel-like chromatin, perinuclear halo and deep basophilic cytoplasm), very rarely plasma cells show varied appearances—signet-ring, pleomorphic, blastic, vacuolated, spindle cell, and clear cell.1 Here, we present a case of plasmacytoma involving the right pleural cavity with unusual morphology and masquerading as a nonhematolymphoid neoplasm. A 75-year-oldwomanpresentedwith complaints of weakness, shoulder, and back pain with breathlessness. Magnetic resonance imaging (MRI) of the thoracic spine (►Fig. 1A) showed a heterogeneous lesion measuring 11.3 2.5 3.9 cm in the right pleural cavity with involvement of the adjacent ribs, costovertebral joints, and infiltration of the right neural foramina in the T3 toT4 and T4 toT5 regions. The lesion showed low fluorodeoxyglucose (FDG) uptake on positron emission tomography-computed tomography (PET-CT) scan with standardized uptake value (SUV) max of 3.3. Needle core biopsy of the lesion under ultrasound guidance was done. Histopathological examination revealed fibrocollagenous tissue and skeletal muscle bundles with neoplastic cells arranged in cords and sheets (►Fig. 1B). The
除了通常的形态(偏心放置的圆形至卵圆形细胞核,染色质呈推车状,核周晕和深嗜碱性细胞质)外,浆细胞很少表现出不同的外观——印戒、多形性、母细胞、空泡化、梭形细胞和透明细胞,我们报告一例浆细胞瘤,累及右侧胸膜腔,形态异常,伪装成非血淋巴肿瘤。一位75岁的女性出现虚弱、肩膀和背部疼痛以及呼吸困难的症状。胸椎的磁共振成像(MRI)(►图1A)显示右侧胸膜腔内有一个11.32.53.9厘米的异质性病变,累及相邻肋骨、肋椎关节,T3至T4和T4至T5区域的右侧神经孔浸润。在正电子发射断层扫描计算机断层扫描(PET-CT)上,病变显示低氟脱氧葡萄糖(FDG)摄取,标准摄取值(SUV)最大值为3.3。在超声引导下对病变进行了针芯活检。组织病理学检查显示纤维胶原组织和骨骼肌束,肿瘤细胞排列成索状和片状(►图1B)。这个
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引用次数: 0
A Survey on Unmet Need for Uniform Next-Generation Sequencing Reporting in India 印度对统一下一代测序报告未满足需求的调查
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-07-05 DOI: 10.1055/s-0043-1770936
Neha Pathak, Anu R. I., Padmaj S. Kulkarni, Amol Patel
Abstract Introduction:  Next-generation sequencing (NGS) has paved the way for precision oncology in oncology clinics today. With rapidly advancing therapeutics, it is becoming increasingly important to obtain information about the molecular milieu of a patient's tumor. However, reporting and interpreting of NGS is fraught with complexity and variability. To understand the questions surrounding NGS reporting in India, we conducted a survey. Objectives:  The aim of this study was to assess the gaps in NGS reporting and interpretation in Indian medical oncology clinics. Materials and Methods : An anonymized 10-question survey-based study among Indian medical oncologists through Google forms was conducted between October 4 and 8, 2022. Results:  The sample size was n  = 58. Seventy-one percent felt there was heterogeneity in NGS reporting, 72% were unaware of NGS reporting guidelines, and 62% did not feel the need for a molecular scientist assist in NGS interpretation. Almost all (98%) felt there was a need for uniform NGS reporting as well as an Indian NGS repository and data-sharing system (93%). Conclusion:  Our survey highlights the need for a uniform national guideline concerning NGS reporting.
摘要简介:新一代测序(NGS)为肿瘤临床的精确肿瘤学铺平了道路。随着治疗方法的快速发展,获取患者肿瘤分子环境的信息变得越来越重要。然而,NGS的报告和解释充满了复杂性和可变性。为了了解围绕印度NGS报告的问题,我们进行了一项调查。目的:本研究的目的是评估印度肿瘤医学诊所在NGS报告和解释方面的差距。材料与方法:在2022年10月4日至8日期间,通过谷歌表格对印度医学肿瘤学家进行了一项10个问题的匿名调查研究。结果:样本量n = 58。71%的人认为NGS报告存在异质性,72%的人不知道NGS报告指南,62%的人认为不需要分子科学家协助NGS解释。几乎所有人(98%)认为需要统一的NGS报告,以及印度的NGS存储库和数据共享系统(93%)。结论:我们的调查强调需要一个关于NGS报告的统一的国家指南。
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引用次数: 0
Prospective Observational Study on the Risk Factors of Chemotherapy-Induced Myelosuppression and Its Management in a Tertiary Care Hospital 某三级医院化疗所致骨髓抑制危险因素及处理的前瞻性观察研究
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-07-05 DOI: 10.1055/s-0043-1770905
D. Keziah, M. Bindhiya, M. Jayaprakash, Rodrigues A Prudence
Abstract Introduction  Myelosuppression is a commonly observed dose-limiting side effect of majority of chemotherapeutic drugs, characterized by a decrease in blood cell production. They cause neutropenia, thrombocytopenia, and anemia and can be life threatening in few susceptible individuals. Attempts to lessen chemotherapy-induced myelosuppression have been minimally effective. Managing myelosuppression has been a challenge to medical practitioners and pharmacist. Identifying their risk factors and the management strategies can help prevent the debilitating effects on chemotherapy patients. Objectives  The aim of this study was to determine the risk factors for chemotherapy-induced myelosuppression and identify its management in a tertiary care hospital. We also observed the cycle it predominantly occurs and its prevalence rate in the region. Materials and Methods  The study is a prospective observational cohort study conducted in a tertiary care hospital in Coimbatore, Tamil Nadu. The sample size was calculated using RAO software for a study duration of 4 months from 73 patients who were prescribed the inclusion criteria drugs paclitaxel, carboplatin, 5-fluorouracil, doxorubicin, and cyclophosphamide. The complete blood count was obtained and followed up to find myelosuppression occurrence on day 8 of first three cycles. The National Cancer Institute grading system was used to assess the severity of myelosuppression. It was done from May 2022 to August 2022. Chi-squared tests and percentages were adopted by using the SPSS software. Result  The result for primary objective is that among the total 73 patients employed, 30 patients were found to be myelosuppressive (41%) and the prevalence rate was 41%. Risk factors such as age, gender, and diagnosis showed statistically significant association (confidence interval: 95% and p -value <0.005). The drugs paclitaxel, carboplatin, 5-fluorouracil, cyclophosphamide, and adriamycin proved to be highly myelosuppressive with a p -value of 0.049. The results for secondary objectives were that cycle 1 was reported to be highly myelosuppressive with 27%. The treatment options that was highly used was granulocyte-colony stimulating factor (90%), followed by packed red blood cell transfusion (7%). Conclusion  The incidence of chemotherapy-induced myelosuppression from this study showed that it was important to monitor the complete blood count levels in patients undergoing chemotherapy. Early assessment of risk for developing myelosuppression may prevent or reduce its severity.
骨髓抑制是大多数化疗药物常见的剂量限制性副作用,其特征是血细胞生成减少。它们引起中性粒细胞减少症、血小板减少症和贫血,在少数易感个体中可危及生命。试图减轻化疗诱导的骨髓抑制效果甚微。管理骨髓抑制一直是一个挑战,医生和药剂师。确定其危险因素和管理策略有助于预防化疗患者的衰弱效应。目的本研究的目的是确定化疗诱导骨髓抑制的危险因素,并确定其在三级保健医院的管理。我们还观察到它主要发生的周期及其在该地区的患病率。材料和方法本研究是一项前瞻性观察队列研究,在泰米尔纳德邦哥印拜陀的一家三级保健医院进行。在为期4个月的研究中,使用RAO软件计算73例患者的样本量,这些患者的入选标准为紫杉醇、卡铂、5-氟尿嘧啶、阿霉素和环磷酰胺。获得全血细胞计数并随访发现前三个周期第8天出现骨髓抑制。使用国家癌症研究所分级系统来评估骨髓抑制的严重程度。它于2022年5月至2022年8月完成。采用SPSS软件进行卡方检验和百分比分析。结果主要目的为73例患者中,发现骨髓抑制30例(41%),患病率为41%。年龄、性别、诊断等危险因素有统计学意义(置信区间95%,p值<0.005)。紫杉醇、卡铂、5-氟尿嘧啶、环磷酰胺、阿霉素具有高度的骨髓抑制作用,p值为0.049。次要目标的结果是,据报道第1周期有27%的高度骨髓抑制。使用最多的治疗方案是粒细胞集落刺激因子(90%),其次是填充红细胞输注(7%)。结论本研究中化疗诱导骨髓抑制的发生率表明,监测化疗患者的全血细胞计数水平是很重要的。早期评估发生骨髓抑制的风险可以预防或降低其严重程度。
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引用次数: 0
Case Report with a Review of Literature: Pancoast Syndrome—A Rare Presentation of Metastatic Hepatocellular Carcinoma 病例报告并文献复习:Pancoast综合征-转移性肝细胞癌的罕见表现
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-06-16 DOI: 10.1055/s-0043-1769492
Lakshmi Sandhya Singuluri, P. Ganesan, B. Srinivas, B. Dubashi, Y. Nisha
Abstract Superior sulcus tumors, also known as Pancoast tumors, present in a distinctive way with Horner's syndrome (ptosis, miosis, and anhidrosis), hand weakness brought on by the atrophy of the intrinsic hand muscles, and excruciating pain along the medial aspect of the arm. (1) Primary lung cancers constitute a majority of Pancoast tumors, but Pancoast syndrome can be multifactorial. (2) Here, we present a case of 62-year-old male who presented with right shoulder pain and weakness for 2 months. Clinically, he had a supraclavicular mass with atrophy of the intrinsic muscles of the hand and sensory-motor weakness. Computed tomography showed a mass lesion in the supraclavicular fossa with the erosion of the T1 vertebra and first rib, mimicking carcinoma right upper lobe. However, the biopsy from the mass was suggestive of metastasis from hepatocellular carcinoma (HCC). Our case report identifies HCC as a rare differential for Pancoast syndrome and highlights the unique metastatic presentation.
摘要上沟肿瘤,也称为Pancoast肿瘤,以一种独特的方式与Horner综合征(上睑下垂、瞳孔缩小和无汗症)、手部固有肌肉萎缩引起的手部无力以及手臂内侧的剧烈疼痛有关。(1) 原发性肺癌构成了大多数胰腺癌,但胰腺癌综合征可能是多因素的。(2) 在这里,我们介绍了一个62岁的男性病例,他表现为右肩疼痛和虚弱2个月。临床上,他有一个锁骨上肿块,伴有手部固有肌肉萎缩和感觉运动无力。计算机断层扫描显示锁骨上窝有一个肿块,T1椎骨和第一肋骨受到侵蚀,类似于右上叶癌。然而,肿块的活检提示肝细胞癌(HCC)有转移。我们的病例报告将HCC确定为Pancoast综合征的罕见鉴别,并强调了其独特的转移表现。
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引用次数: 0
Melanotic Neuroectodermal Tumor of Infancy: A Case Report with Review of Literature 婴儿期黑色素样神经外胚层肿瘤1例并文献复习
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-06-14 DOI: 10.1055/s-0043-1768983
Vasundhara Patil, Jeba Nazneen, P. Rai, Ujjwal Agarwal, A. Mahajan
Abstract Melanotic neuroectodermal tumors of infancy are rare pigmented neuroectodermal locally aggressive tumors that usually occur within 1 year of life. Head and neck areas are frequently involved with maxilla being the most common site. Expansile growth and high recurrence rate are characteristics of this cancer. Though rare, radiologists and clinicians must be aware and should consider this entity when diagnosing pediatric head and neck masses. Computed tomography can be used for diagnosing and looking at the extent of the disease and predicting the operative outcome. Surgery with wide resection margin is the mainstay of treatment for these masses. Surgery followed by adjuvant chemotherapy and radiation is reserved for aggressive malignant lesions. Since it has a high recurrence rate, follow-up is done with imaging and clinical examination. Early detection and treatment of recurrence have a favorable outcome for the patients.
婴儿期黑色素神经外胚层肿瘤是一种罕见的色素性神经外胚层局部侵袭性肿瘤,通常发生在1岁以内。头部和颈部经常受累,上颌骨是最常见的部位。扩张性生长和高复发率是这种癌症的特点。虽然罕见,放射科医生和临床医生必须意识到,并应考虑到这个实体诊断儿童头颈部肿块。计算机断层扫描可用于诊断和观察疾病的程度,并预测手术结果。广泛切除的手术是治疗这些肿块的主要方法。手术后的辅助化疗和放疗是为侵略性恶性病变保留的。由于复发率高,随访需进行影像学和临床检查。早期发现和治疗复发对患者有良好的效果。
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引用次数: 0
ChatGPT—Preliminary Overview with Implications for Medicine and Oncology chatgpt -初步概述及其对医学和肿瘤学的影响
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-06-14 DOI: 10.1055/s-0043-1768985
Purvish M. Parikh, Dinesh M. Shah, Urvish G. Parikh, A. Venniyoor, G. Babu, Apurva Garg, H. Malhotra
Abstract This review provides an overview about the OpenAI system's natural language chat bot called ChatGPT. It focuses on the preliminary assessment of its unique features, advantages, limitations, role in manuscript writing, value in oncology, and future implications.
本文概述了OpenAI系统的自然语言聊天机器人ChatGPT。它侧重于其独特的特点,优点,局限性,在手稿写作中的作用,价值在肿瘤学和未来的影响初步评估。
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引用次数: 3
Correlation of Quantitative Diffusion-Weighted MR Parameters and SUVmax from 18-FDG PET-CT in Lung Cancer: A Prospective Observational Study 肺癌症18-FDG PET-CT定量扩散加权MR参数与SUVmax的相关性:一项前瞻性观察研究
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-06-09 DOI: 10.1055/s-0042-1754392
J. Goyal, A. Jajodia, V. Koyyala, A. Bansal, U. Batra, S. Pasricha, S. Puri, Arvind K. Chaturvedi
Abstract Background  Diffusion-weighted magnetic resonance imaging (DW-MRI) sequences report the cellularity in tissues and 18-fluorodeoxyglucose (18-FDG) positron emission tomography–computed tomography (PET-CT) provides information on glucose metabolism in cells, associated to tumor aggressiveness. The aim of this study was to assess the correlation between quantitative diffusion-weighted magnetic resonance parameters and maximum standardized uptake value (SUVmax) using 18-FDG PET-CT in lung cancer and metastatic lymph nodes. Methods  Histologically proven 29 patients of lung cancers were subjected to 18-FDG PET-CT and DW-MRI (parameters: repetition time/time to echo [TR/TE] = 4,000/76 ms; b -values = 0, 400, and 800 s/mm 2 ) between June 2018 and June 2019. SUVmax was calculated on the PET-CT images representing region of interest (ROI) in the tumor. The apparent diffusion coefficient (ADC) values were quantified by placing an ROI over the tumor at a high b -value of 800 mm 2 /s. Statistical analyses for correlation between SUVmax and ADC were done using Pearson's correlation coefficient ( r ). Results  Significant negative correlation was observed between analyses of ADC and SUVmax for primary lesions of all nonsmall-cell lung cancers (NSCLCs; p  < 0.05) and its histological subtype adenocarcinoma ( p  < 0.05) but not squamous cell carcinomas ( p  = 0.35). Significant negative correlation was also observed for metastatic lymph nodes of adenocarcinoma ( p  < 0.05) but not for metastatic lymph nodes of all NSCLCs ( p  = 0.05) or squamous cell carcinomas ( p  = 0.55). Conclusions  Diffusion-weighted imaging (DWI) with ADC may represent a new prognostic marker due to a significant negative correlation between ADC determined by DWI and SUVmax by PET-CT in NSCLCs. Furthermore, DWI-MRI of the thorax can be added to routine 18-FDG PET-CT for staging and response assessment in lung cancer in prospects.
扩散加权磁共振成像(DW-MRI)序列报告了组织中的细胞结构,而18-氟脱氧葡萄糖(18-FDG)正电子发射断层扫描-计算机断层扫描(PET-CT)提供了细胞中与肿瘤侵袭性相关的葡萄糖代谢信息。本研究的目的是利用18-FDG PET-CT评估肺癌和转移性淋巴结的定量扩散加权磁共振参数与最大标准化摄取值(SUVmax)之间的相关性。方法对29例经组织学证实的肺癌患者行18-FDG PET-CT和DW-MRI检查(参数:重复时间/回声时间[TR/TE] = 4000 /76 ms;b -值= 0,400和800s /mm 2)在2018年6月至2019年6月之间。在代表肿瘤感兴趣区域(ROI)的PET-CT图像上计算SUVmax。视扩散系数(ADC)值通过在肿瘤上放置一个高b值(800mm2 /s)的ROI来量化。采用Pearson相关系数(r)对SUVmax与ADC的相关性进行统计分析。结果ADC与SUVmax在所有非小细胞肺癌(nsclc;P < 0.05)及其组织学亚型腺癌(P < 0.05),而鳞状细胞癌无统计学意义(P = 0.35)。腺癌的转移淋巴结也有显著的负相关(p < 0.05),而所有非小细胞肺癌(p = 0.05)和鳞状细胞癌的转移淋巴结无显著的负相关(p = 0.55)。结论DWI诊断ADC与PET-CT SUVmax呈显著负相关,可作为非小细胞肺癌预后的新指标。此外,在常规18-FDG PET-CT的基础上,胸腔DWI-MRI可作为肺癌分期和预后评价的辅助手段。
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引用次数: 0
Adverse Drug Reaction Reporting in Geriatric Oncology in India: An Understudied Topic that Needs Attention 药物不良反应报告在印度老年肿瘤:一个有待研究的话题,需要关注
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-06-09 DOI: 10.1055/s-0043-1768569
S. Kuriachan, P. Palatty, T. George, M. Baliga
Abstract In the elderly, polypharmacy is a common problem, and drug interactions and adverse drug reactions (ADR) have been linked to considerable harm in several population-based studies. However, when compared with other medical disciplines, studies with elderly cancer patients are lacking in oncology and India in particular. Additionally, intake of multiple drugs and, at times, potentially inappropriate medications (PIMs) are also common in older cancer patients. Physiologically, the body's metabolic functions are reduced in the elderly, resulting in altered medication pharmacokinetics and pharmacodynamic characteristics. There is also a high risk of aging-related disorders, and an increase in pharmaceutical use. Because cancer can affect the physiological milieu, patients are more likely to experience negative drug responses, drug–disease interactions, and drug–drug interactions, thereby making the elderly more vulnerable to the ill effects. Considering this, there is a need for greater knowledge and measures that try to lessen exposure to and the risks connected to drug combinations that might be detrimental. As the geriatric population grows, the need to address medical issues among aging cancer patients becomes more pressing, particularly in India. As far as the authors are aware, there is no review that addresses the drug–drug interactions and adverse drug responses brought on by polypharmacy in older cancer patients. It is expected that this endeavor will help the fraternity and the patients, and will serve as a valuable academic material for the health care students.
在老年人中,多药是一个常见的问题,在一些基于人群的研究中,药物相互作用和药物不良反应(ADR)与相当大的危害有关。然而,与其他医学学科相比,肿瘤学特别是印度缺乏对老年癌症患者的研究。此外,在老年癌症患者中,摄入多种药物和有时可能不适当的药物(PIMs)也很常见。在生理上,老年人身体的代谢功能降低,导致药物的药代动力学和药效学特性发生改变。与衰老有关的疾病的风险也很高,药物的使用也在增加。由于癌症可以影响生理环境,患者更容易经历药物负面反应,药物-疾病相互作用,药物-药物相互作用,从而使老年人更容易受到不良影响。考虑到这一点,需要有更多的知识和措施,试图减少对可能有害的药物组合的接触和相关风险。随着老年人口的增长,解决老年癌症患者医疗问题的需求变得更加迫切,尤其是在印度。据作者所知,目前还没有针对老年癌症患者多重用药引起的药物相互作用和药物不良反应的综述。期望这一努力能帮助兄弟会和病人,并为卫生专业的学生提供宝贵的学术资料。
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引用次数: 0
SETBP1 in Myeloid Malignancies—Putting Breadcrumbs Together in Rare, Uncommon, and Common Pediatric Cases SETBP1在髓系恶性肿瘤中的作用——在罕见、不常见和常见的儿科病例中把面包屑放在一起
IF 0.2 Q4 ONCOLOGY Pub Date : 2023-06-09 DOI: 10.1055/s-0043-1769491
Aroonima Misra, B. Rishi, S. Bajaj, S. Saluja, Ashutosh Kumar Singh
In resource-constraint settings, genetic testing is rarely available for patients. We report the association of SETBP1, a major oncogene of interest in myeloid malignancies, with juvenile myelomonocytic leukemia (JMML) and with GATA 1 mutation. The modulating role of SETBP1 in Rat sarcoma virus (RAS)-driven myeloid malignancies, especiallyJMML, is unknown. In vivo and in vitro studies point to the role of SETBP1 in aggressive leukemogenesis. 1 SETBP1 mutation is not considered the primary event. 2 The association of SETBP1 with RAS and PTPN11, protein tyrosine phosphatase nonreceptor type 11 (PTPN11) confers both self-renewal and oncogenic transformation. The outcome of SETBP1 with confounding mutations like PTPN11 and interlinked path-ways of Mitogen-activated
在资源有限的情况下,患者很少能进行基因检测。我们报道了SETBP1(一种髓系恶性肿瘤的主要致癌基因)与青少年粒单核细胞白血病(JMML)和GATA1突变的关系。SETBP1在大鼠肉瘤病毒(RAS)驱动的髓系恶性肿瘤,特别是JMML中的调节作用尚不清楚。体内和体外研究表明SETBP1在侵袭性白血病发生中的作用。1 SETBP1突变不被认为是主要事件。2 SETBP1与RAS和PTPN11,11型蛋白酪氨酸磷酸酶非受体(PTPN11)的结合赋予了自我更新和致癌转化。具有PTPN11等混杂突变的SETBP1的结果和丝裂原激活的相互连接途径
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引用次数: 0
期刊
Indian Journal of Medical and Paediatric Oncology
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