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Cases of Patients Treated in Countries With Limited Resources and Discussed by Experts of the International CML Foundation (iCMLf)-Case No. 1: A Boy Presenting With Priapism and Loss of Vision. 国际骨髓增生性白血病基金会 (iCMLf) 专家讨论的资源有限国家患者治疗病例 - 病例 1:一名出现尿崩症和视力丧失的男孩。
IF 0.6 Q4 ONCOLOGY Pub Date : 2024-07-29 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5534445
Nirmalya Roy Moulik, Arlene Harriss-Buchan, Guiseppe Saglio, Nicola Evans, Meinolf Suttorp

Pediatric chronic myeloid leukemia (pCML) is a rare malignancy accounting for only 2%-3% of all childhood leukemias. Due to this rarity, familiarity with pCML is limited among most pediatric practitioners, including even pediatric hemato-oncologists. In low- and middle-income countries (LMICs), limited financial resources and limited data specific to pCML represent obstacles that healthcare providers must face in diagnosing and treating this rare condition in children. The International CML Foundation (iCMLf) is improving outcomes for people with CML in these countries where resources, diagnostics, and access to medicines may be limited (https://www.cml-foundation.org/lmic-programs.html). Virtual meetings with the purpose of teaching participating pediatricians from LMICs of defined geographical regions were organised by the iCMLf in 2023. At a virtual meeting of the South Asia region, the case of a 14-year-old Indian boy was presented diagnosed with CML in a chronic phase complicated by priapism and loss of vision in his left eye due to hyperleukocytosis. Key aspects of this case are discussed in-depth from the perspective of (i) a pediatric hemato-oncologist practicing in a high-income country, (ii) a pediatric hemato-oncologist practicing in a LMIC, (iii) an adult CML hematologist, and (iv) from the iCMLf in improving the care of children with CML worldwide. Thus by discussing a multifaceted complicated case of pCML in written form as well as pointing to the pediatric module of the iCMLf Knowledge Centre will hopefully contribute to minimize existing knowledge gaps in a rare pediatric malignancy.

小儿慢性髓性白血病(pCML)是一种罕见的恶性肿瘤,仅占所有儿童白血病的 2%-3%。由于这种罕见性,大多数儿科医生,甚至包括儿科血液肿瘤专家,对 pCML 的了解都很有限。在中低收入国家(LMICs),有限的财政资源和针对 pCML 的有限数据是医疗服务提供者在诊断和治疗这种罕见儿童疾病时必须面对的障碍。国际骨髓增生性白血病基金会 (iCMLf) 正在改善这些国家骨髓增生性白血病患者的治疗效果,因为这些国家在资源、诊断和药物获取方面可能都很有限 (https://www.cml-foundation.org/lmic-programs.html)。2023 年,iCMLf 组织了虚拟会议,目的是向来自特定地理区域的低收入、中等收入和中等收入国家的儿科医生传授知识。在南亚地区的虚拟会议上,一名 14 岁的印度男孩被诊断为慢性骨髓增生性白血病(CML)慢性期并发症,由于白细胞过多,他的左眼出现视力丧失。我们从以下角度深入讨论了该病例的主要方面:(i) 在高收入国家执业的儿科血液肿瘤学家;(ii) 在低收入国家执业的儿科血液肿瘤学家;(iii) 成人 CML 血液学家;(iv) iCMLf 在改善全球儿童 CML 患者护理方面的作用。因此,通过书面形式讨论 pCML 的多方面复杂病例,并指出 iCMLf 知识中心的儿科模块,希望能有助于最大限度地缩小罕见儿科恶性肿瘤方面现有的知识差距。
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引用次数: 0
A Primary Telangiectatic Mandibular Osteosarcoma With Germ-Line Malignancy-Associated DNA Damage Repair Gene Polymorphisms: A Case Report. 与生殖系恶性肿瘤相关的 DNA 损伤修复基因多态性的原发性下颌骨远端切除性骨肉瘤:病例报告。
IF 0.6 Q4 ONCOLOGY Pub Date : 2024-06-06 eCollection Date: 2024-01-01 DOI: 10.1155/2024/2418888
Muhammad Tahir, Eric X Wei, Carlina Madelaire, Alice S Yu, Guillermo A Herrera, Rodney E Shackelford

Primary mandibular telangiectatic osteosarcomas are very rare lesions, with only nine cases reported. Histologically, these lesions show multiple cystic blood-filled cavities traversed by neoplastic bone in septa lined by high-grade malignant cells. Here, we report an 81-year-old woman who presented with a mandibular mass, which was surgically resected and analyzed by histologic examination and whole exome DNA sequencing. A diagnosis of telangiectatic osteosarcoma was given. Comparative sequencing data analysis of paired benign and tumor DNA revealed 1577 variants unique to the tumor DNA, which clustered into several gene families, including those regulating DNA repair and apoptosis. Comparison of benign and tumor DNA revealed many shared gene polymorphisms associated with an increased cancer risk. These included polymorphisms in the ATM, p53, BRCA1, and BRCA2 and many other genes. Interestingly, the patient's family history showed an unusually high cancer incidence, likely related to these cancer risk-associated polymorphisms. To our knowledge, this is the first-time sequencing applied to a mandibular telangiectatic osteosarcoma. Our findings may shed light on the molecular origins of these rare tumors and how they may relate to other tumors in related kindreds.

原发性下颌骨毛细血管扩张性骨肉瘤是一种非常罕见的病变,目前仅有九例报道。组织学上,这些病变表现为多发性囊性充血腔,由高级别恶性细胞内衬的隔膜中的肿瘤骨穿过。在此,我们报告了一名 81 岁女性的下颌骨肿块病例,该肿块经手术切除,并通过组织学检查和全外显子组 DNA 测序进行了分析。诊断结果为毛细血管扩张性骨肉瘤。对配对的良性和肿瘤DNA进行比较测序数据分析后发现,肿瘤DNA中存在1577个独特的变异,这些变异聚集在多个基因家族中,其中包括调控DNA修复和细胞凋亡的基因。良性和肿瘤DNA的比较发现了许多与癌症风险增加有关的共有基因多态性。这些基因包括 ATM、p53、BRCA1 和 BRCA2 以及许多其他基因的多态性。有趣的是,患者的家族史显示其癌症发病率异常高,这很可能与这些癌症风险相关多态性有关。据我们所知,这是首次对下颌骨毛细血管扩张性骨肉瘤进行测序。我们的研究结果可能会揭示这些罕见肿瘤的分子起源,以及它们与相关血统中其他肿瘤的关系。
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引用次数: 0
Paraganglioma of the Neck: A Rare Case With Spinal Metastasis. 颈部副神经节瘤:脊柱转移的罕见病例
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-04-26 eCollection Date: 2024-01-01 DOI: 10.1155/2024/2025115
Sean McCormack, Eyad Hamad, Amar Hamad

Paragangliomas are rare neuroendocrine tumors that arise from the paraganglia, which are clusters of neuroendocrine cells associated with the autonomic nervous system. These tumors are commonly found in the adrenal medulla but can also occur in other locations outside the adrenal gland. Here, we present a case report of a slow-growing paraganglioma in the left neck with spinal metastasis in a 60-year-old man. This case highlights the importance of considering paraganglion tumors in the differential diagnosis of neck masses and the need for early diagnosis and management to prevent potential complications. Importantly, both the clinical picture and anatomical location of these tumors is important when determining treatment plans.

副神经节瘤是一种罕见的神经内分泌肿瘤,它产生于副神经节,是与自主神经系统有关的神经内分泌细胞群。这些肿瘤通常发生在肾上腺髓质,但也可能发生在肾上腺以外的其他部位。在此,我们报告了一例 60 岁男性左颈部缓慢生长的副神经节瘤并伴有脊柱转移的病例。该病例强调了在颈部肿块的鉴别诊断中考虑副神经节肿瘤的重要性,以及早期诊断和治疗以预防潜在并发症的必要性。重要的是,在确定治疗方案时,这些肿瘤的临床表现和解剖位置都很重要。
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引用次数: 0
The Role of Surgery to Relieve Symptomatic Cutaneous T-Cell Lymphoma Refractory to Medical Treatments. 手术在缓解药物治疗难治性皮肤 T 细胞淋巴瘤症状中的作用。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-04-26 eCollection Date: 2024-01-01 DOI: 10.1155/2024/6645278
Wesley Q Zhang, Emily E Hecox, Shireen Dogar, Marc E Walker

Background: Though mycosis fungoides (MF) is the most common type of cutaneous T-cell lymphoma (CTCL), it has no curative treatment. The aim of current topical and systemic treatment is centered around relieving symptoms and optimizing disease-free time. The use of surgical management to achieve the same goals of symptomatic reduction is not well described in the current literature. Methods: We present a case of refractory MF that failed chemotherapy, radiotherapy, and UV light therapy. Despite medical management, the tumor burden progressed to significant compression neuropathy of the ulnar and median nerves. Results: To reduce tumor burden and attempt to provide symptomatic relief, a surgical plan was developed to include radical resection of the tumor of the left upper extremity (LUE) with release of the cubital tunnel, carpal tunnel, Guyon canal, and coverage with split-thickness skin graft. The patient reported decreased symptomatology interfering with her daily activities and, overall, a better quality of life postoperatively. Conclusion: Surgical intervention, in addition to established medical standards of care, for symptomatic relief of compression neuropathy from tumor mass effect for refractory CTCL should be considered to achieve quality of life goals for patients.

背景:尽管真菌病(MF)是皮肤 T 细胞淋巴瘤(CTCL)中最常见的类型,但目前尚无根治性治疗方法。目前局部和全身治疗的目的主要是缓解症状和延长无病生存时间。目前的文献还没有很好地描述如何使用手术治疗来达到同样的减轻症状的目的。方法:我们介绍了一例化疗、放疗和紫外线治疗失败的难治性中耳炎患者。尽管进行了药物治疗,但肿瘤负担仍发展为尺神经和正中神经的严重压迫性神经病变。结果:为了减轻肿瘤负担并缓解症状,医生制定了手术方案,包括对左上肢(LUE)肿瘤进行根治性切除,同时松解肘隧道、腕隧道和Guyon管,并用分层厚皮移植术进行覆盖。患者表示,术后影响日常活动的症状有所减轻,总体生活质量也有所提高。结论对于难治性 CTCL,除了既定的医疗标准外,还应考虑通过手术干预来缓解肿瘤肿块效应引起的压迫性神经病变症状,以实现患者的生活质量目标。
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引用次数: 0
Significantly Delayed Development of Polyarthritis with Active Tenosynovitis after Possible Temporary Neutropenic Immune-Related Adverse Events Caused by Atezolizumab Treatment: A Novel Case Report. 阿特珠单抗治疗可能引起的暂时性中性粒细胞减少性免疫相关不良事件后,多关节炎伴活动性腱鞘炎的显著延迟发展:新病例报告。
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-02-08 eCollection Date: 2024-01-01 DOI: 10.1155/2024/1566299
Yoshitaka Saito, Yoh Takekuma, Hajime Asahina, Ryo Hisada, Mitsuru Sugawara

Immune checkpoint inhibitors have drastically improved cancer treatment. However, they may induce immune-related adverse events (irAEs). Here, we report a case of significantly delayed rheumatic irAEs (Rh-irAEs) with prior possible temporary neutropenic irAEs in a patient with atezolizumab-treated non-small-cell lung cancer and its management. A man in his sixties received atezolizumab monotherapy as the sixth-line treatment. He experienced an infusion-related reaction (fever) during the first cycle. On day 22 of cycle 2, grade 4 neutropenia suddenly appeared, but it disappeared on the next day. Cycle 3 was initiated after seven days; the patient did not exhibit any symptoms for approximately 500 days. However, on day 534 (day 1 of cycle 21), the patient complained of pain in the shoulders, back, and wrists. On day 644, the shoulder and back pain worsened with obvious swelling of the fingers. We thus suspended treatment and consulted a rheumatologist. A diagnosis of polyarthritis with active tenosynovitis was made based on joint ultrasound and laboratory tests. Prednisolone 15 mg attenuated the symptoms, allowing suspension of analgesics; however, dose reduction from 15 mg/day was difficult because of symptom flares. Finally, iguratimod 25 mg twice daily was initiated on day 764; prednisolone was reduced to 10 mg without flares, and its dosage was slowly reduced to 5 mg/day. Although irAEs exhibit multisystem features, delayed development of polyarthritis with active tenosynovitis after possible temporary neutropenic irAEs is rare. Thus, irAEs need to be monitored for a long time in patients with suspected irAE development even if it appears transiently.

免疫检查点抑制剂大大改善了癌症治疗。然而,它们可能会诱发免疫相关不良事件(irAEs)。在此,我们报告了一例atezolizumab治疗的非小细胞肺癌患者出现明显延迟的风湿性irAEs(Rh-irAEs)以及之前可能出现的暂时性中性粒细胞减少性irAEs及其处理方法。一名六十多岁的男子接受了阿特珠单抗单药治疗,作为六线治疗。在第一周期,他出现了输液相关反应(发烧)。在第二周期的第 22 天,他突然出现了 4 级中性粒细胞减少症,但第二天就消失了。第 3 周期在 7 天后开始;患者在大约 500 天内没有出现任何症状。然而,在第 534 天(第 21 个周期的第 1 天),患者抱怨肩膀、背部和手腕疼痛。第 644 天,肩部和背部疼痛加剧,手指明显肿胀。因此,我们暂停了治疗,并咨询了风湿病专家。根据关节超声波和实验室检查结果,诊断为多关节炎伴活动性腱鞘炎。泼尼松龙 15 毫克可减轻症状,从而可以暂停使用镇痛药;然而,由于症状复发,很难从每天 15 毫克的剂量开始减量。最后,在第764天开始使用伊古拉替莫德(iguratimod)25毫克,每天两次;泼尼松龙减少到10毫克,但症状没有复发,其剂量慢慢减少到每天5毫克。虽然虹膜睫状体异常表现出多系统特征,但在可能出现暂时性中性粒细胞减少性虹膜睫状体异常后延迟发展为多关节炎伴活动性腱鞘炎的情况并不多见。因此,对于疑似出现虹膜睫状体异常的患者,即使是一过性的虹膜睫状体异常,也需要对其进行长期监测。
{"title":"Significantly Delayed Development of Polyarthritis with Active Tenosynovitis after Possible Temporary Neutropenic Immune-Related Adverse Events Caused by Atezolizumab Treatment: A Novel Case Report.","authors":"Yoshitaka Saito, Yoh Takekuma, Hajime Asahina, Ryo Hisada, Mitsuru Sugawara","doi":"10.1155/2024/1566299","DOIUrl":"10.1155/2024/1566299","url":null,"abstract":"<p><p>Immune checkpoint inhibitors have drastically improved cancer treatment. However, they may induce immune-related adverse events (irAEs). Here, we report a case of significantly delayed rheumatic irAEs (Rh-irAEs) with prior possible temporary neutropenic irAEs in a patient with atezolizumab-treated non-small-cell lung cancer and its management. A man in his sixties received atezolizumab monotherapy as the sixth-line treatment. He experienced an infusion-related reaction (fever) during the first cycle. On day 22 of cycle 2, grade 4 neutropenia suddenly appeared, but it disappeared on the next day. Cycle 3 was initiated after seven days; the patient did not exhibit any symptoms for approximately 500 days. However, on day 534 (day 1 of cycle 21), the patient complained of pain in the shoulders, back, and wrists. On day 644, the shoulder and back pain worsened with obvious swelling of the fingers. We thus suspended treatment and consulted a rheumatologist. A diagnosis of polyarthritis with active tenosynovitis was made based on joint ultrasound and laboratory tests. Prednisolone 15 mg attenuated the symptoms, allowing suspension of analgesics; however, dose reduction from 15 mg/day was difficult because of symptom flares. Finally, iguratimod 25 mg twice daily was initiated on day 764; prednisolone was reduced to 10 mg without flares, and its dosage was slowly reduced to 5 mg/day. Although irAEs exhibit multisystem features, delayed development of polyarthritis with active tenosynovitis after possible temporary neutropenic irAEs is rare. Thus, irAEs need to be monitored for a long time in patients with suspected irAE development even if it appears transiently.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2024 ","pages":"1566299"},"PeriodicalIF":0.9,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10869192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139740471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metastatic Ovarian Serous Adenocarcinoma Clinically Presenting as Inflammatory Breast Cancer 临床表现为炎症性乳腺癌的转移性卵巢浆液性腺癌
IF 0.9 Q4 ONCOLOGY Pub Date : 2024-01-10 DOI: 10.1155/2024/4756335
Lingling Xian, Rachel Hunter, Emily Smith, Rasha Mohammed, C. Madelaire, Guillermo A. Herrera, Rodney E. Shackelford
Metastatic disease to the breast is a rare event, accounting for 0.5-2% of all breast cancers. Outside of metastases from the contralateral breast, malignant ovarian epithelial tumors are the most common origin of these metastases. Here, we present a very rare case of a high-grade ovarian serous adenocarcinoma presenting clinically as inflammatory breast cancer in a 70-year-old woman.
转移到乳房的疾病很少见,占所有乳腺癌的 0.5%-2%。除对侧乳房转移外,恶性卵巢上皮肿瘤是最常见的转移源。在这里,我们介绍了一例非常罕见的病例,一位 70 岁的妇女在临床上表现为炎症性乳腺癌的高级别卵巢浆液性腺癌。
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引用次数: 0
A Rare Case of Nasal Sarcoma with BCOR Internal Tandem Duplication Showing Complete Pathologic Response to the VDC-IE Chemotherapy Protocol. 一例罕见的鼻肉瘤 BCOR 内部串联重复病例对 VDC-IE 化疗方案显示出完全病理反应。
IF 0.9 Q4 ONCOLOGY Pub Date : 2023-12-26 eCollection Date: 2023-01-01 DOI: 10.1155/2023/5546323
Samer Salah, Maher A Sughayer, Omar Jaber, Nebras Abu Abed, Fatena Ajlouni, Wisam Al Gargaz, Ramiz Abu Hijlih, Fawzi Abuhijla, Akram Al-Ibraheem, Farah Alul, Walid Naser

Sarcoma with BCOR genetic alteration is an exceptionally rare and emerging subtype of sarcoma. It is categorized into two types: BCOR-related gene fusions such as BCOR::CCNB3 sarcomas and other BCOR-rearranged sarcoma and sarcomas with internal tandem duplication of BCOR genes such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumors of infancy. BCOR::CCNB3 sarcomas predominantly arise in bone rather than soft tissue and exhibit a higher occurrence in children and adolescent males, whereas sarcomas with BCOR internal tandem duplication show a wider age range but usually arise in the first year of life. Due to their rarity, there is ongoing debate and uncertainty regarding the best treatment approach, with a lack of specific clinical trials addressing these tumors. In this report, we present a unique case of sarcoma with internal tandem duplication of BCOR gene originating in the nasal region. The tumor was successfully and completely resected using the standard VDC-IE chemotherapy protocol, resulting in an unprecedented 100 percent tumor necrosis. The patient has completed the protocol and remains recurrence-free 13 months after diagnosis. This case suggests potential efficacy of the standard VDC-IE protocol in achieving remarkable responses in BCOR rearrangement sarcomas, including the internal tandem duplication subtype. However, further studies are needed to determine the optimal treatment strategies for this disease.

具有 BCOR 基因改变的肉瘤是一种异常罕见的新兴亚型肉瘤。它分为两种类型:BCOR 相关基因融合(如 BCOR::CCNB3肉瘤和其他 BCOR 重排肉瘤)和 BCOR 基因内部串联重复的肉瘤(如婴儿未分化圆细胞肉瘤和婴儿原始肌间质肿瘤)。BCOR::CCNB3肉瘤主要发生在骨骼而非软组织,儿童和青少年男性发病率较高,而BCOR内部串联重复的肉瘤发病年龄范围较广,但通常发生在出生后第一年。由于其罕见性,关于最佳治疗方法的争论和不确定性一直存在,并且缺乏针对这些肿瘤的特定临床试验。在本报告中,我们介绍了一例独特的鼻部 BCOR 基因内部串联重复肉瘤病例。我们采用标准的 VDC-IE 化疗方案成功地完全切除了肿瘤,肿瘤坏死率达到前所未有的 100%。患者已完成方案治疗,确诊后 13 个月仍未复发。该病例表明,标准 VDC-IE 方案在 BCOR 重排肉瘤(包括内部串联重复亚型)中取得显著疗效的潜在功效。然而,要确定这种疾病的最佳治疗策略,还需要进一步的研究。
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引用次数: 0
Case Report of Probable DRESS Syndrome Associated with Ribociclib. 可能与利博西尼相关的DRESS综合征病例报告。
IF 0.9 Q4 ONCOLOGY Pub Date : 2023-11-23 eCollection Date: 2023-01-01 DOI: 10.1155/2023/7904950
Florian Carneiro, Marine Bove, Frédérique Beau-Salinas, Tevy San, Pierre Combe

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare but known and potentially severe side effect of drugs. The recent development of cyclin-dependent kinase 4/6 (CDK4/6) inhibitors, such as ribociclib, has considerably improved the management of hormone receptor positive (HR+) and HER2 negative (HER2-) advanced breast cancer. Here, we present the case of an 83-year-old patient who developed a probable DRESS syndrome induced by ribociclib, presenting with fever, eosinophilia, rash, and hepatic cytolysis. The RegiSCAR score was 4. The symptomatology evolved favorably with topical and systemic corticosteroids, without any sequel. Another CDK4/6 inhibitor, palbociclib, was introduced later without any cross-toxicity and with an excellent therapeutic response for more than 3 years.

药物反应伴嗜酸性粒细胞增多和全身症状(DRESS)是一种罕见但已知且可能严重的药物副作用。最近开发的细胞周期蛋白依赖性激酶4/6 (CDK4/6)抑制剂,如ribociclib,已经大大改善了激素受体阳性(HR+)和HER2阴性(HER2-)晚期乳腺癌的管理。在这里,我们报告了一例83岁的患者,他发展为可能由核糖素引起的DRESS综合征,表现为发烧、嗜酸性粒细胞增多、皮疹和肝细胞溶解。RegiSCAR评分为4分。局部和全身皮质类固醇的症状发展良好,没有任何后遗症。另一种CDK4/6抑制剂palbociclib后来被引入,没有任何交叉毒性,并且在3年多的时间里有很好的治疗反应。
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引用次数: 0
Inv(3) Acute Myeloid Leukemia in a Young Adult and Review of the Literature 1例青壮年急性髓系白血病及文献回顾
Q4 ONCOLOGY Pub Date : 2023-11-11 DOI: 10.1155/2023/6628492
Carlee Blakemore, Sudarshawn Damodharan, Diane Puccetti
Acute myeloid leukemia (AML) with the high-risk variant inv(3)/t(3;3) or t(3;3)(q21;26.2) is rarely seen in the pediatric and young adult population. It is associated with poor outcomes with ineffective therapeutic options. Here, we present a case of an 18-year-old female with treatment refractory inv(3) AML in whom remission was unable to be obtained. Better treatment options are needed given the increased resistance to traditional therapy this subtype portrays. Here, we review the literature on pediatric and young adult inv(3) AML along with newer therapeutic options.
具有高风险变异inv(3)/t(3;3)或t(3;3)(q21;26.2)的急性髓性白血病(AML)在儿科和青年人群中罕见。它与治疗方案无效的不良结果有关。在这里,我们提出了一例18岁的女性治疗难治性inv(3) AML,无法获得缓解。鉴于该亚型所描述的对传统疗法的耐药性增加,需要更好的治疗方案。在这里,我们回顾了儿科和青少年AML的文献以及新的治疗方案。
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引用次数: 0
ACTH-Producing Neuroendocrine Carcinoma of the Liver with Cushing's Syndrome. 产生ACTH的神经内分泌肝癌伴库欣综合征。
IF 0.9 Q4 ONCOLOGY Pub Date : 2023-09-26 eCollection Date: 2023-01-01 DOI: 10.1155/2023/9946271
Mudassar Sandozi, Saagar Pamulapati, Aniqa Zaidi, Zuzanna Stuart, Sneha Pamulapati, Ajay Doniparthi

Paraneoplastic Cushing's syndrome arises when neuroendocrine tumors cause excess glucocorticoid production. We report a case of ectopic ACTH-producing liver neuroendocrine tumor. A 71 y.o. female with a history of rectal squamous carcinoma presented with fatigue and diffuse swelling. Liver biopsy revealed metastatic neuroendocrine carcinoma. Workup revealed markedly elevated morning cortisol and ACTH. Overnight dexamethasone suppression testing and positive immunostaining for ACTH on biopsy suggested paraneoplastic Cushing's syndrome secondary to neuroendocrine hepatic tumors with bony metastasis. This explained the patient's persistent anasarca, hyperglycemia, and electrolyte abnormalities. Despite multiple interventions, the patient's clinical status declined, and she expired.

当神经内分泌肿瘤引起过量的糖皮质激素产生时,就会出现副肿瘤性库欣综合征。我们报告一例异位促肾上腺皮质激素产生的肝脏神经内分泌肿瘤。一位71岁女性,有直肠鳞状细胞癌病史,表现为疲劳和弥漫性肿胀。肝活检显示有转移性神经内分泌癌。检查显示早晨皮质醇和促肾上腺皮质激素明显升高。隔夜地塞米松抑制试验和活检中ACTH免疫染色阳性表明副肿瘤性库欣综合征继发于伴有骨转移的神经内分泌肝肿瘤。这解释了患者持续性肛门痉挛、高血糖和电解质异常。尽管采取了多种干预措施,但患者的临床状况有所下降,并已过期。
{"title":"ACTH-Producing Neuroendocrine Carcinoma of the Liver with Cushing's Syndrome.","authors":"Mudassar Sandozi,&nbsp;Saagar Pamulapati,&nbsp;Aniqa Zaidi,&nbsp;Zuzanna Stuart,&nbsp;Sneha Pamulapati,&nbsp;Ajay Doniparthi","doi":"10.1155/2023/9946271","DOIUrl":"https://doi.org/10.1155/2023/9946271","url":null,"abstract":"<p><p>Paraneoplastic Cushing's syndrome arises when neuroendocrine tumors cause excess glucocorticoid production. We report a case of ectopic ACTH-producing liver neuroendocrine tumor. A 71 y.o. female with a history of rectal squamous carcinoma presented with fatigue and diffuse swelling. Liver biopsy revealed metastatic neuroendocrine carcinoma. Workup revealed markedly elevated morning cortisol and ACTH. Overnight dexamethasone suppression testing and positive immunostaining for ACTH on biopsy suggested paraneoplastic Cushing's syndrome secondary to neuroendocrine hepatic tumors with bony metastasis. This explained the patient's persistent anasarca, hyperglycemia, and electrolyte abnormalities. Despite multiple interventions, the patient's clinical status declined, and she expired.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2023 ","pages":"9946271"},"PeriodicalIF":0.9,"publicationDate":"2023-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41113057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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