罕见的交集:镰状细胞地中海贫血和淋巴瘤病例研究

Birol GUVENC , Meryem SENER , Candas MUMCU , Bengisu Ece DUMAN , Berra Nur ISCI , Emre BAL , Irem KABALCI KADIOGLU
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引用次数: 0

摘要

本病例研究探讨了一名 37 岁患者同时患有镰状细胞地中海贫血症(S 型地中海贫血症)和淋巴瘤的罕见而复杂的情况,这给诊断和治疗带来了特殊的挑战。患者最初因腹痛、恶心和呕吐等非特异性症状接受评估,随后接受了广泛的诊断检查,发现了多方面的临床表现。先进的影像学检查发现了多种异常情况,包括胆囊结石密度过高、肠系膜根部网状密度增高和甲状腺结节性病变,但肺实质未发现肿块病变。活组织检查证实,患者患有高级别B细胞弥漫性大B细胞淋巴瘤(DLBCL),表现为侵袭性非生殖中心表型。有趣的是,免疫组化结果显示标记物之间存在复杂的相互作用,其中值得注意的是,cMYC 阳性率为 80%,Ki67 增殖指数阳性率为 80%。S 型地中海贫血和淋巴瘤的双重诊断,尤其是考虑到这两种疾病同时发生的罕见性,给治疗决策带来了巨大挑战,并凸显了以患者为中心的护理这一关键需求,同时考虑到了伦理和自主性因素。本病例为有关血红蛋白病和淋巴瘤并发症的有限文献做出了贡献,为管理此类罕见并发症的诊断困境和治疗策略提供了见解。
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A Rare Intersection: Case Study on Sickle-Cell Thalassemia and Lymphoma

This case study explores the rare and complex coexistence of sickle-cell thalassemia (S-talassemia) and lymphoma in a 37-year-old individual, presenting an exceptional diagnostic and therapeutic challenge. Initially evaluated for non-specific symptoms including abdominal pain, nausea, and vomiting, the patient underwent extensive diagnostic investigations revealing a multifaceted clinical picture. Advanced imaging identified multiple abnormal findings, including hyperdense gallbladder stones, increased reticular density in the mesenteric root, and nodular lesions in the thyroid gland, without the presence of mass lesions in the lung parenchyma. Biopsies confirmed the presence of high-grade B-cell, diffuse large B-cell lymphoma (DLBCL), showcasing an aggressive non-germinal center phenotype. Interestingly, immunohistochemistry results pointed towards a complex interplay of markers, with notable findings such as cMYC 80% positivity and a Ki67 proliferation index of 80% positive. The dual diagnosis of S-talassemia and lymphoma, especially considering the rarity of their co-occurrence, posed a significant challenge in terms of treatment decision-making and highlighted the critical need for patient-centered care, taking into account the ethical and autonomy considerations. This case contributes to the limited literature on the intersection of hemoglobinopathies and lymphoma, offering insights into the diagnostic dilemmas and therapeutic strategies in managing such rare comorbid conditions.

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来源期刊
CiteScore
2.40
自引率
4.80%
发文量
1419
审稿时长
30 weeks
期刊最新文献
PRELIMINARY RESULTS FROM A MULTICENTER PHASE 2/3 STUDY OF NEXT-GENERATION SICKLE HEMOGLOBIN POLYMERIZATION INHIBITOR OSIVELOTOR (GBT021601) FOR THE TREATMENT OF PATIENTS WITH SICKLE CELL DISEASE DOENÇA HEMOLÍTICA DO FETO E DO RECÉM-NASCIDO POR ALOIMUNIZAÇÃO RH - INQUIRIÇÃO NARRATIVA OFICINA DA MEMÓRIA:PROPOSTA DE REABILITAÇÃO COGNITIVA EM PACIENTES QUE VIVEM COM DOENÇA FALCIFORME LASERTERAPIA NO TRATAMENTO COADJUVANTE DA DOR DA NECROSE ASSÉPTICA DA CABEÇA DO FÉMUR NA DOENÇA FALCIFORME; RELATOS DE CASO ENERGIZE: A GLOBAL PHASE 3 STUDY OF MITAPIVAT DEMONSTRATING EFFICACY AND SAFETY IN ADULTS WITH ALPHA- OR BETA-NON–TRANSFUSION-DEPENDENT THALASSEMIA
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