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Navigating diagnostic dilemmas: a rare presentation of extramedullary T-lymphoblastic leukemia/lymphoma with chronic myeloid leukemia. 诊断两难:髓外T淋巴细胞白血病/淋巴瘤合并慢性髓性白血病的罕见病例。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-12-01 Epub Date: 2024-11-25 DOI: 10.1007/s12308-024-00613-7
Ahmad Alshomrani, Richard Laye, Neha Gupta

Chronic myeloid leukemia (CML) typically presents in the chronic phase. The blast crisis phase in CML predominantly comprises the myeloid phenotype, while B-cell lymphoblastic crisis is common among the lymphoid lineages. Presentation as a T-lymphoblastic crisis is exceptionally rare. Little is known about its characteristics, treatment, and prognosis. This case study reports a patient who presented as an extramedullary blast crisis with T-lymphoblastic immunophenotype without a known prior diagnosis of CML. We performed hematoxylin and eosin staining, immunohistochemistry on the inguinal lymph node, and bone marrow biopsy. Ancillary studies including flow cytometry and cytogenetic testing were conducted as needed. BCR::ABL1 is quantitative real-time polymerase chain reaction monitored disease progression. Our patient is a 40-year-old male with no previous medical history who presented with neck stiffness and pain of one week in duration. Clinical evaluation revealed diffuse lymphadenopathy and splenomegaly. A biopsy from the inguinal lymph node revealed T-lymphoblastic lymphoma (T-LBL) (90%) and a population of myeloblasts (10%). Subsequent bone marrow biopsy showed myelocyte expansion, dwarf megakaryocytes, scattered myeloblasts (9%), and T-lymphoblasts (6%). Flow cytometry of the bone marrow aspirate revealed myeloblasts (5.4%) and T-lymphoblasts (6.3%). Genetic and molecular studies identified the BCR-ABL1 fusion. This case contributes to the medical literature by documenting a rare occurrence of extramedullary T-LBL with concurrent CML. The absence of a CML history makes the diagnosis particularly challenging and underscores the need for comprehensive and personalized treatment strategies.

慢性髓性白血病(CML)通常表现为慢性期。CML 的爆发危象期主要包括髓系表型,而 B 细胞淋巴细胞危象在淋巴系中很常见。以 T 淋巴细胞危象出现的情况极为罕见。人们对其特征、治疗和预后知之甚少。本病例研究报告了一名髓外胚泡危象患者,其免疫表型为T淋巴细胞,之前未确诊为CML。我们对患者腹股沟淋巴结进行了苏木精和伊红染色、免疫组化检查和骨髓活检。必要时还进行了流式细胞术和细胞遗传学检测等辅助研究。BCR::ABL1通过定量实时聚合酶链反应监测疾病进展。我们的患者是一名 40 岁的男性,既往无病史,出现颈部僵硬和疼痛一周。临床评估显示他有弥漫性淋巴结肿大和脾脏肿大。腹股沟淋巴结活检发现了T淋巴细胞淋巴瘤(T-LBL)(90%)和骨髓细胞群(10%)。随后的骨髓活检显示骨髓细胞扩张、矮小巨核细胞、散在的骨髓母细胞(9%)和T淋巴细胞(6%)。骨髓穿刺流式细胞术显示骨髓母细胞(5.4%)和T淋巴细胞(6.3%)。遗传和分子研究确定了 BCR-ABL1 融合。该病例是髓外T-LBL并发CML的罕见病例,为医学文献做出了贡献。由于没有CML病史,因此诊断特别具有挑战性,并强调了综合和个性化治疗策略的必要性。
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引用次数: 0
Concurrent involvement of the bone marrow by BRAF V600E-mutant melanoma and hairy cell leukemia. BRAF V600E 突变黑色素瘤和毛细胞白血病同时累及骨髓。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-12-01 Epub Date: 2024-10-28 DOI: 10.1007/s12308-024-00609-3
Margaret Moore, Pranav Patel, Jianguo Tao
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引用次数: 0
Quantification of the median fluorescence intensity of CD3 and CD4 in mycosis fungoides/Sezary syndrome versus non-neoplastic control cases in peripheral blood. 外周血中真菌病/Sezary 综合征与非肿瘤性对照病例的 CD3 和 CD4 荧光强度中位数量化。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-12-01 Epub Date: 2024-08-02 DOI: 10.1007/s12308-024-00599-2
Fei Fei, Nivaz Brar, Melissa Beth Herring, Joshua R Menke, Jean Oak, Sebastian Fernandez-Pol

Peripheral blood involvement by MF/SS has significant implications for prognosis and treatment. Flow cytometry is commonly used to assess MF/SS by analyzing the ratio of CD26- and/or CD7-CD4 + T cells and assessment of immunophenotypic abnormalities. However, distinguishing normal from abnormal cells is not always easy. In this study, we aimed to establish quantitative thresholds to better distinguish normal CD4 + T cells from neoplastic CD4 + T cells. A retrospective analysis of flow cytometry data was performed on 30 MF/SS patients with a detectable abnormal T cell population (positive), 63 patients with suspected or confirmed cutaneous involvement without a detectable abnormal T cell population (negative), and 60 healthy controls (control). CD3 and CD4 median fluorescence intensity (MFI) was normalized to internal control subsets. Among the positive cases, 50% had CD3 expression outside ± 2 SD from the mean of the negative and control group in the CD4 + CD26- subset. The corresponding specificity of this threshold was 94%. The ± 2 SD threshold showed a sensitivity of 57% and a specificity of 94% for the CD3 intensity among the CD7-negative subset. For CD4 intensity, the ± 2 SD threshold had a sensitivity of 33.3% and specificity of 95% for the CD26-negative subset and a sensitivity of 37% and specificity of 95% for the CD7-negative subset. In our study, although changes in CD3 and CD4 intensity greater than ± 2 SD were specific for MF/SS, more subtle differences in the intensity of CD3 and CD4 should not be used as the sole abnormality to make a diagnosis of circulating MF/SS.

MF/SS累及外周血对预后和治疗有重要影响。流式细胞术通常通过分析 CD26- 和/或 CD7-CD4 + T 细胞的比例和评估免疫表型异常来评估 MF/SS。然而,区分正常和异常细胞并非易事。在本研究中,我们旨在建立定量阈值,以更好地区分正常 CD4 + T 细胞和肿瘤性 CD4 + T 细胞。我们对 30 例可检测到异常 T 细胞群(阳性)的 MF/SS 患者、63 例疑似或确诊皮肤受累但未检测到异常 T 细胞群(阴性)的患者以及 60 例健康对照组(对照)的流式细胞术数据进行了回顾性分析。CD3 和 CD4 中位荧光强度 (MFI) 与内部对照亚群进行了归一化。在阳性病例中,50%的病例在 CD4 + CD26- 亚群中的 CD3 表达超出阴性组和对照组平均值 ± 2 SD。该阈值的特异性为 94%。在 CD7 阴性亚组中,± 2 SD 临界值对 CD3 强度的灵敏度为 57%,特异度为 94%。对于 CD4 强度,± 2 SD 临界值对 CD26 阴性亚群的灵敏度为 33.3%,特异性为 95%;对 CD7 阴性亚群的灵敏度为 37%,特异性为 95%。在我们的研究中,虽然 CD3 和 CD4 强度的变化大于 ± 2 SD 对 MF/SS 具有特异性,但 CD3 和 CD4 强度的更细微差别不应作为诊断循环 MF/SS 的唯一异常。
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引用次数: 0
Perifollicular concentric granulomas: A clue to IgG4-related lymphadenopathy. 滤泡周围同心肉芽肿:igg4相关淋巴结病的线索。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-12-01 Epub Date: 2024-12-04 DOI: 10.1007/s12308-024-00615-5
Joanna L Conant, Sean S M Bullis, Clayton Wilburn

A 69-year-old with well-controlled HIV was evaluated for persistent cough, in the context of years of fatigue and influenza A infection 6 months prior. Chest CT and PET scans were notable for adenopathy concerning for a lymphoproliferative disorder. Radiologic studies also showed diffuse FDG uptake in the prostate, consistent with prostatitis. Axillary lymph node biopsy showed follicular and paracortical hyperplasia, and few germinal centers showed perifollicular non-necrotizing granulomas. Immunohistochemical staining demonstrated a predominance of IgG4 positive plasma cells. Serum protein electrophoresis (SPEP) and immunosubtraction showed a board-domed peak pattern suggestive of possible monoclonality. Serum IgG4 levels were elevated, and the patient was diagnosed with IgG4-related disease (IgG4-RD). This case highlights morphologic and SPEP patterns that can aid in supporting a diagnosis of IgG4-RD.

我们对一名69岁的艾滋病病毒控制良好的患者进行了持续咳嗽的评估,该患者在6个月前出现了多年的疲劳和甲型流感感染。胸部CT和PET扫描显示与淋巴增生性疾病有关的腺病。放射学研究也显示前列腺弥漫性氟脱氧葡萄糖摄取,与前列腺炎一致。腋窝淋巴结活检显示滤泡和皮质旁增生,少数生发中心显示滤泡周围非坏死性肉芽肿。免疫组化染色显示IgG4阳性浆细胞居多。血清蛋白电泳(SPEP)和免疫减影显示板状圆顶峰模式,提示可能是单克隆。血清IgG4水平升高,诊断为IgG4相关疾病(IgG4- rd)。本病例强调形态和SPEP模式可以帮助支持IgG4-RD的诊断。
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引用次数: 0
Systemic ALK-negative anaplastic large cell lymphoma with NPM1::TYK2 rearrangement. 伴有NPM1::TYK2重排的全身性ALK阴性非典型大细胞淋巴瘤。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-12-01 Epub Date: 2024-08-29 DOI: 10.1007/s12308-024-00604-8
Mckinzie Johnson, Nicholas Willard, Zenggang Pan

Anaplastic large cell lymphoma (ALCL) is a rare subtype of non-Hodgkin lymphoma, with most cases harboring ALK gene rearrangement (ALK + ALCL); however, 20-50% of ALCLs do not have the rearrangement (ALK- ALCL) but exhibit distinct genetic alterations. In this report, we present an unusual case of systemic ALK- ALCL with NPM1::TYK2 fusion. Diagnosis of this case was challenging prior to the NGS findings. A comprehensive panel of immunohistochemical and in-situ hybridization studies was conducted. FISH assays were utilized to target the rearrangements of DUSP22 and TP63 genes. Moreover, next-generation sequencing (NGS) assays were performed to detect clonal rearrangements of IGH and TRG genes, somatic mutations, and potential fusions. The lymphoma cells in this case are negative for all hematolymphoid markers stained, except for CD30 expression and focal and weak CD43 expression. However, NGS studies detected clonal TRG rearrangement and NPM1::TYK2 rearrangement, which aid in the diagnosis of ALK- ALCL. NPM1::TYK2 rearrangement is a rare genetic alteration that has been reported in rare cases of primary cutaneous ALCL, mycosis fungoides, and lymphomatoid papulosis. To the best of our knowledge, this is the first reported instance of such rearrangement in systemic ALK- ALCL.

无性大细胞淋巴瘤(ALCL)是非霍奇金淋巴瘤中的一种罕见亚型,大多数病例携带 ALK 基因重排(ALK + ALCL);然而,20%-50% 的 ALCL 没有重排(ALK- ALCL),但表现出不同的基因改变。在本报告中,我们介绍了一例不寻常的伴有 NPM1::TYK2 融合的全身性 ALK- ALCL。在 NGS 发现之前,该病例的诊断具有挑战性。我们进行了全面的免疫组化和原位杂交研究。针对 DUSP22 和 TP63 基因的重排使用了 FISH 检测。此外,还进行了下一代测序(NGS)测定,以检测 IGH 和 TRG 基因的克隆重排、体细胞突变和潜在融合。该病例中的淋巴瘤细胞除 CD30 表达和局灶性弱 CD43 表达外,所有血淋巴标志物染色均为阴性。然而,NGS研究检测到克隆性TRG重排和NPM1::TYK2重排,有助于诊断ALK- ALCL。NPM1::TYK2重排是一种罕见的基因改变,在原发性皮肤ALCL、真菌病和淋巴瘤样丘疹病等罕见病例中均有报道。据我们所知,这是首次报道在全身性ALK- ALCL中出现这种重排。
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引用次数: 0
Therapy-related myeloid neoplasms following curative treatment of acute promyelocytic leukemia: incidence, correlation with therapeutic regimen, and future directions 急性早幼粒细胞白血病治愈性治疗后的治疗相关髓样肿瘤:发病率、与治疗方案的相关性和未来方向
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-09-10 DOI: 10.1007/s12308-024-00606-6
Adil Menon, Madina Sukhanova, Juehua Gao, Kristy Wolniak, Lucy Fu, Yi-Hua Chen, Qing Ching Chen, Hamza Tariq

All-trans retinoic acid (ATRA) and arsenic trioxide (ATO) have revolutionized the treatment of acute promyelocytic leukemia (APL), offering a cure rate of > 80%. Along with improved survival, the long-term consequences of anti-APL therapy are becoming increasingly apparent, including potential therapy-related myeloid neoplasms (t-MNs). T-MNs are well known to arise after cytotoxic chemotherapy, but the leukemogenic potential of regimens utilizing only ATRA/ATO is not well established. The objective of this study is to examine the incidence, long-term risk, and clinicopathologic features of t-MNs arising after anti-APL therapy and how they correlates with the therapeutic regimen employed. We retrospectively collected treated APL patients between 01/2001 and 02/2021, categorized them into ATRA/ATO + chemo and ATRA/ATO groups based on the regimen used, and evaluated for the development of t-MN. A total of 110 APL patients were identified, including 67 (61%) treated with ATRA/ATO + chemo and 43 (39%) treated with ATRA/ATO only. Overall, 4/110 (3.6%) patients developed t-MNs, with all four emerging in the ATRA/ATO + chemo group. Ultimately, the incidence of t-MN in ATRA/ATO + chemo group was significantly higher compared with ATRA/ATO only group(5.97% vs. 0.0%, respectively; p = 0.0289). Our data spanning over two decades suggests that conventional chemotherapy for APL is associated with a small but significant risk of t-MN, whereas ATR/ATO does not carry this risk. This takes on new significance, considering several recent and ongoing trials have shown that a chemotherapy-free approach might become feasible for all risk APL types in the near future. Consequently, the omission of leukemogenic and arguably unnecessary chemotherapy from APL regimens may reduce the incidence of t-MNs in long-term survivors without sacrificing their cure rates.

全反式维甲酸(ATRA)和三氧化二砷(ATO)彻底改变了急性早幼粒细胞白血病(APL)的治疗,治愈率高达 80%。在提高生存率的同时,抗 APL 疗法的长期后果也日益明显,其中包括潜在的治疗相关髓样肿瘤(t-MNs)。众所周知,细胞毒性化疗后会产生髓细胞肿瘤,但只使用 ATRA/ATO 的治疗方案的致白血病潜力尚未得到充分证实。本研究旨在探讨抗 APL 治疗后出现的 t-MNs 的发病率、长期风险和临床病理特征,以及它们与所采用的治疗方案之间的相关性。我们回顾性地收集了 2001 年 1 月至 2021 年 2 月期间接受治疗的 APL 患者,根据所采用的治疗方案将其分为 ATRA/ATO + 化疗组和 ATRA/ATO 组,并评估了 t-MN 的发生情况。共确定了 110 例 APL 患者,其中 67 例(61%)接受了 ATRA/ATO + 化疗,43 例(39%)仅接受了 ATRA/ATO 治疗。总体而言,4/110(3.6%)名患者出现了t-MNs,所有四名患者均出现在ATRA/ATO+化疗组。最终,ATRA/ATO + 化疗组的 t-MN 发生率明显高于仅接受 ATRA/ATO 治疗组(分别为 5.97% 对 0.0%;P = 0.0289)。我们二十多年来的数据表明,APL 的常规化疗与发生 t-MN 的微小但重要的风险有关,而 ATR/ATO 则没有这种风险。考虑到最近和正在进行的几项试验表明,在不久的将来,无化疗方法对所有风险 APL 类型都是可行的,这就具有了新的意义。因此,在 APL 治疗方案中省略致白血病的化疗(也可以说是不必要的化疗),可能会降低长期存活者的 t-MN 发生率,而不会影响其治愈率。
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引用次数: 0
Assessment for acceleration and transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma using histologic and immunohistochemical features: a case series. 利用组织学和免疫组化特征评估慢性淋巴细胞白血病/小淋巴细胞淋巴瘤的加速和转化:一个病例系列。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-09-01 Epub Date: 2024-07-23 DOI: 10.1007/s12308-024-00598-3
Margaret E Moore, Nadine S Aguilera, Ifeyinwa Obiorah, Eli Williams, Elizabeth Courville

Morphologic features of aggressive/ "accelerated" chronic lymphocytic leukemia/small lymphocytic lymphoma (aCLL/SLL) have been described. Richter transformation (RT) also occurs in a subset of CLL/SLL cases. This case series examined inter-observer variability when assessing for aCLL/SLL and RT, with attention to how immunohistochemical (IHC) markers may assist in this evaluation. Twelve cases of CLL/SLL with available FFPE tissue were identified. H&E staining and IHC (CD3, CD20, CD5, CD23, LEF1, LAG3, C-MYC, PD-1, MUM1, Cyclin D1, BCL-6, p53, and Ki-67) were performed. Three hematopathologists reviewed each case. The pathologists provided a final interpretation of (1) CLL/SLL, (2) CLL/SLL with expanded and/or confluent proliferation centers or increased Ki-67 (aCLL/SLL), or (3) large cell transformation/DLBCL. The pathologists lacked consensus in the diagnosis in 6/12 cases (50%). The reviewers disagreed on the presence of expanded/confluent proliferation centers in 8/12 cases (67%). With the exception of Ki-67, no IHC marker showed a difference in the staining profile in aCLL/SLL or RT compared to low-grade cases. This series showed inter-observer variability in the evaluation for aCLL/SLL and RT. A study that serially examines genetic alterations in FFPE tissue and correlates the features with histology and IHC, at diagnosis and throughout the disease course, may help refine indicators of aggressive disease.

侵袭性/"加速 "慢性淋巴细胞白血病/小淋巴细胞淋巴瘤(aCLL/SLL)的形态特征已被描述。里氏转化(RT)也发生在一部分 CLL/SLL 病例中。本病例系列研究了评估 aCLL/SLL 和 RT 时观察者之间的差异性,并关注了免疫组化(IHC)标记物在评估中的辅助作用。该研究确定了 12 例具有 FFPE 组织的 CLL/SLL 病例。进行了 H&E 染色和 IHC(CD3、CD20、CD5、CD23、LEF1、LAG3、C-MYC、PD-1、MUM1、Cyclin D1、BCL-6、p53 和 Ki-67)检查。三位血液病理学家对每个病例进行了审查。病理学家给出的最终解释是:(1) CLL/SLL;(2) CLL/SLL,伴有增殖中心扩大和/或汇合或 Ki-67 增高(aCLL/SLL);或 (3) 大细胞转化/DLBCL。病理学家对 6/12 例病例(50%)的诊断缺乏共识。在 8/12 个病例(67%)中,病理学家对是否存在扩大/汇合增殖中心存在分歧。除Ki-67外,没有任何IHC标记物显示aCLL/SLL或RT与低级别病例的染色特征存在差异。该系列研究显示,在评估 aCLL/SLL 和 RT 时,观察者之间存在差异。一项在诊断时和整个病程中连续检测 FFPE 组织中基因改变并将这些特征与组织学和 IHC 相关联的研究可能有助于完善侵袭性疾病的指标。
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引用次数: 0
Molecular characterization of a rare case of high-grade B-cell lymphoma with MYC, BCL2, BCL6, and CCND1 rearrangements. 一例罕见的伴有 MYC、BCL2、BCL6 和 CCND1 重排的高级别 B 细胞淋巴瘤的分子特征。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-09-01 Epub Date: 2024-06-24 DOI: 10.1007/s12308-024-00593-8
Fnu Monika, Ahmed Sabri, David Cantu, Eric Vail, Andrew Siref

Quadruple-hit lymphomas are extremely rare non-Hodgkin lymphomas with a reported dismal prognosis in the few reported cases. A "quadruple hit" has been defined by the presence of concurrent MYC, BCL2, BCL6, and CCND1 chromosomal rearrangements. We report a new case of a quadruple hit lymphoma in a 73-year-old Hispanic man who presented with an enlarging left-sided neck mass. Computed tomography showed a 1.9-cm mass in left the tonsil with bulky cervical lymphadenopathy. The presence of all four chromosomal rearrangements can reportedly occur with disease progression in both diffuse large B-cell lymphomas and mantle cell lymphomas. Further characterization of the tumor by next-generation sequencing may be of benefit to delineate between these two possibilities. Immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and next-generation sequencing were used to confirm and classify the diagnosis. Histologic sections of the cervical lymph node demonstrated an atypical lymphoid infiltrate with large and pleomorphic cells, which were positive for CD20, CD10, BCL1 (Cyclin D1), BCL2, BCL6, and cMYC and negative for CD5 and SOX11 on immunohistochemistry with a Ki-67 proliferative index of 70%. FISH demonstrated MYC, BCL2, BCL6, and CCND1 rearrangements and the diagnosis of high-grade B-cell lymphoma with MYC, BCL2, BCL6, and CCND1 was rendered. Our patient was treated with dose adjusted etoposide, doxorubicin, cyclophosphamide, prednisone, and rituximab chemotherapy and has been in remission for 20 months.

四重打击淋巴瘤是一种极为罕见的非霍奇金淋巴瘤,在少数报道的病例中预后很差。四重打击 "的定义是同时存在 MYC、BCL2、BCL6 和 CCND1 染色体重排。我们报告了一例新的四联淋巴瘤病例,患者是一名 73 岁的西班牙裔男性,因左侧颈部肿块增大而就诊。计算机断层扫描显示,左侧扁桃体有一个 1.9 厘米的肿块,并伴有颈部淋巴结肿大。据报道,弥漫大 B 细胞淋巴瘤和套细胞淋巴瘤在疾病进展过程中都可能出现所有四种染色体重排。通过下一代测序进一步确定肿瘤特征可能有助于区分这两种可能性。免疫组化(IHC)、荧光原位杂交(FISH)和新一代测序被用来确诊和分类。宫颈淋巴结的组织切片显示了非典型淋巴细胞浸润,细胞体积大且多形,免疫组化结果显示CD20、CD10、BCL1(细胞周期蛋白D1)、BCL2、BCL6和cMYC阳性,CD5和SOX11阴性,Ki-67增殖指数为70%。FISH显示MYC、BCL2、BCL6和CCND1重排,诊断为伴有MYC、BCL2、BCL6和CCND1的高级别B细胞淋巴瘤。患者接受了剂量调整后的依托泊苷、多柔比星、环磷酰胺、泼尼松和利妥昔单抗化疗,病情已缓解了20个月。
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引用次数: 0
The use of targeted ribonucleic acid (RNA)-sequencing assay in the diagnostic evaluation of acute myeloid leukaemia (AML). 在急性髓性白血病(AML)诊断评估中使用靶向核糖核酸(RNA)测序法。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-09-01 Epub Date: 2024-06-25 DOI: 10.1007/s12308-024-00594-7
Ke Xu, Shweta Gupta, Eleanor Kaffo, Robert Baker, Elisabeth Nacheva, Jenny O'Nions, Andrew J Wilson, Rajeev Gupta
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引用次数: 0
AI-based computational H&E staining in lymphomas. 基于人工智能的淋巴瘤 H&E 染色计算。
IF 0.6 4区 医学 Q4 HEMATOLOGY Pub Date : 2024-09-01 Epub Date: 2024-06-13 DOI: 10.1007/s12308-024-00590-x
Laura M Wake, Rima Koka, Michael E Kallen
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引用次数: 0
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Journal of Hematopathology
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