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Myeloid Neoplasia and Other Leukemias 髓样肿瘤和其他白血病
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/pcr.0000000000000346
M. Kallen, Z. Singh
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引用次数: 0
MYC Alteration by Chromothripsis Event in Aggressive High-Grade B-Cell Lymphoma Negative by Conventional Fluorescence In Situ Hybridization Analysis: A Case Report 常规荧光原位杂交分析显示侵袭性高级别b细胞淋巴瘤阴性患者MYC因染色体裂解事件改变1例
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000342
M. Sukhanova, Charles Van Slambrouck, K. Yap, Sonali M. Smith, S. Gurbuxani, G. Venkataraman
Double-hit and double-expressor phenotypes in lymphomas are characterized by activation of the expression of the MYC and BCL2 genes through diverse mechanisms including chromosomal translocations and amplifications. Herein, we report a high-grade B-cell lymphoma in a patient with evidence for a chromothripsis event (via chromosomal microarray methodology) at chromosome 8, resulting in a focal copy number gain of theMYC locus, not detected by conventional fluorescence in situ hybridization for MYC despite strong MYC expression by immunohistochemical analysis. Chromosome analysis from the biopsy was not successful because of an extensive tissue necrosis. Chromothripsis is suggested as another mechanism for the activation of MYC in non-Hodgkin lymphoma, resulting in aggressive disease course, and this case underscores the need for chromosomal microarray testing in select cases to identify aggressive biology.
淋巴瘤的双重打击和双重表达表型的特征是MYC和BCL2基因的表达通过多种机制激活,包括染色体易位和扩增。在此,我们报告了一例高级别b细胞淋巴瘤患者,该患者在8号染色体上有染色体裂解事件的证据(通过染色体微阵列方法),导致MYC位点的局灶拷贝数增加,尽管免疫组织化学分析显示MYC表达强烈,但常规的MYC荧光原位杂交却未检测到。由于广泛的组织坏死,活检的染色体分析不成功。染色体裂解被认为是MYC在非霍奇金淋巴瘤中激活的另一种机制,导致疾病病程的侵袭性,该病例强调了在特定病例中进行染色体微阵列检测以确定侵袭性生物学的必要性。
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引用次数: 0
Unusual Cases of Hairy Cell Leukemia With Uncommon Immunophenotypes: A Diagnostic Challenge 不寻常的毛细胞白血病病例与不寻常的免疫表型:诊断的挑战
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000338
Ying Liu, Elham Vali-Betts, N. Ku
Hairy cell leukemia (HCL) is a rare indolent B-cell neoplasmwith distinct morphologic and immunophenotypic features. Immunophenotypically, the neoplastic cells in HCL are strongly positive for B-cell markers, such as CD19, CD20, and CD22. They also characteristically express CD11c, CD25, CD103, and CD123, but lack CD5, CD10, and CD23. Uncommon immunophenotypes of HCL can pose diagnostic challenges. Here, we report 2 unusual cases of CD5-positive and CD10-positive HCL.
毛细胞白血病(HCL)是一种罕见的惰性b细胞肿瘤,具有独特的形态和免疫表型特征。免疫表型上,HCL中的肿瘤细胞对b细胞标记物如CD19、CD20和CD22强烈阳性。它们也特征性地表达CD11c、CD25、CD103和CD123,但缺乏CD5、CD10和CD23。不常见的HCL免疫表型会给诊断带来挑战。在这里,我们报告2例罕见的cd5阳性和cd10阳性HCL。
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引用次数: 0
Granulomatous Slack Skin T-Cell Lymphoma Manifesting as Ulcerative and Gangrenous Lesions With a Fatal Outcome: A Case Report and Review of the Literature 肉芽肿性松弛皮肤t细胞淋巴瘤表现为溃疡性和坏疽性病变,具有致命的结局:1例报告和文献复习
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000339
Ruijun Su, J. Said, M. Kallen, Chayanit Jumniensuk, S. Pullarkat
Granulomatous slack skin is an extremely rare cutaneous T-cell lymphoma, which often pursues an indolent disease course. Clinically, it is characterized by areas of redundant and lax skin in flexural areas, with variable erythema. Histologic findings include granulomatous T-cell infiltrates with loss of elastic fibers and poikilodermic change. In this article, we report a patient with unusual rapidly progressive ulcerative and gangrenous skin lesions, leading to amputation and ultimately demise. We also review the literature on granulomatous slack skin with similarly aggressive clinical course and discuss the differential diagnosis.
肉芽肿性松弛皮肤是一种极为罕见的皮肤t细胞淋巴瘤,通常表现为无痛性病程。临床表现为屈曲区皮肤冗余松弛,伴变异性红斑。组织学表现包括肉芽肿性t细胞浸润,弹性纤维丧失和皮肤变。在这篇文章中,我们报告了一位患有不寻常的快速进展性溃疡和坏疽性皮肤病变的患者,导致截肢并最终死亡。我们也回顾文献肉芽肿松弛皮肤具有类似侵略性的临床过程,并讨论鉴别诊断。
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引用次数: 0
Soft Tissue Fibroblastic Reticular Cell Tumor With Whole-Exome Sequencing Findings: An Unexpected Presentation of Lynch Syndrome 具有全外显子组测序结果的软组织成纤维网状细胞肿瘤:Lynch综合征的意外表现
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000337
Liurka V Lopez, Daniel F Marker, N. Bailey, Yen‐Chun Liu, Richard L. Mcgough, A. Singhi, I. John
Fibroblastic reticular cell tumor (FRCT) is an exceedingly rare tumor that is histologically reminiscent of follicular dendritic cell sarcoma or interdigitating dendritic cell sarcoma but lacks the immunophenotypic features of these tumors. This tumor is classically described in lymph nodes and spleen, with only 4 cases described in soft tissues. We report a case of FRCT presenting as a right thigh mass in a 67-year-old woman with no prior malignancies. Gross examination showed a 10.6-cm tan well-circumscribed intramuscular mass. Microscopic examination revealed a discohesive population of cells with indistinct pale cytoplasm and large irregular, atypical vesicular nuclei with variably prominent nucleoli in a collagenous background infiltrated by lymphocytes. The tumor cells were positive for smooth muscle actin, cytokeratins (in a dendritic pattern), and CD163, while negative for CD21, CD35, and CD23, supporting the diagnosis of FRCT. Whole-exome sequencing revealed 631 putative somatic mutations in the tumor (>10 mutations/Mb of sequence). Mutational signature analysis suggested DNA mismatch repair deficiency. Germline mutational analysis revealed a heterozygous pathogenic missense mutation of MLH1 (c.2246 T > C, p. Leu749Pro). Subsequent immunohistochemical analysis showed complete loss of MLH1 and PMS2 in tumor cells. To our knowledge, this is the first case of FRCT characterized by sequencing studies and found to be associated with Lynch syndrome (LS), expanding the spectrum of LS-associated neoplasms. This case demonstrates genetic hypermutation similar to that seen in the more common epithelial lesions arising in LS, and it highlights the potential for high-throughput genetic analysis to identify mismatch repair–deficient tumors of atypical histologies, which may have significant clinical implications in the era of immunotherapy.
纤维母细胞网状细胞瘤(FRCT)是一种非常罕见的肿瘤,在组织学上与滤泡树突状细胞肉瘤或交叉指状树突状细胞肉瘤相似,但缺乏这些肿瘤的免疫表型特征。这种肿瘤通常发生在淋巴结和脾脏,只有4例发生在软组织。我们报告一例FRCT表现为右大腿肿块在一个67岁的妇女以前没有恶性肿瘤。大体检查显示一个10.6厘米的棕褐色、边界清楚的肌肉内肿块。镜检显示细胞群不粘连,胞浆不清晰,胞核不规则,不典型,核仁不同程度地突出,胶原背景被淋巴细胞浸润。肿瘤细胞中平滑肌肌动蛋白、细胞角蛋白(呈树突状)和CD163呈阳性,而CD21、CD35和CD23呈阴性,支持FRCT的诊断。全外显子组测序显示肿瘤中存在631个体细胞突变(>10个突变/Mb序列)。突变特征分析提示DNA错配修复缺陷。种系突变分析显示MLH1 (c.2246)存在杂合致病性错义突变T > C, p. [1];随后的免疫组化分析显示肿瘤细胞中MLH1和PMS2完全缺失。据我们所知,这是第一例以测序研究为特征的FRCT病例,并发现与Lynch综合征(LS)相关,扩大了LS相关肿瘤的范围。该病例显示了与LS中更常见的上皮病变相似的基因高突变,它突出了高通量遗传分析识别非典型组织学错配修复缺陷肿瘤的潜力,这可能在免疫治疗时代具有重要的临床意义。
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引用次数: 3
Unusual Presentation of Myeloid Sarcoma in a Patient With Usher Syndrome Usher综合征患者髓系肉瘤的异常表现
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000343
C. R. Barron, G. Crane
A 45-year-old woman with Usher syndrome, associated congenital deafness, progressive blindness due to retinitis pigmentosa, and latent autoimmune diabetes presented to the emergency department with malaise, dizziness, and pelvic pain following removal of an intrauterine device. A posterior vaginal wall mass was found on examination. Laboratory values demonstrated anemia, thrombocytopenia, and an elevated white blood cell count, raising concern for infection and potential onset of diabetic ketoacidosis. This prompted a peripheral blood smear review, which showed 60% monocytic blasts. A subsequent vaginal mass biopsy showed a myeloid sarcoma. Molecular studies demonstrated an NPM1mutation in exon 12 without FLT3mutation or internal tandem duplication.While a diagnosis of acute myeloid leukemia with mutated NPM1 was considered, cytogenetics revealed a complex karyotype with evidence of clonal evolution, consistent with acute myeloid leukemia with myelodysplasia-related changes. In addition to an unusual presentation of myeloid sarcoma, this case posed significant questions regarding management and pursuit of hematopoietic stem cell transplantation. Usher syndrome is genetically and clinically heterogeneous. While it is not known to be associated with increased risk of malignancy, mutation of genes associated with Usher syndrome has been identified in acute leukemia. Our case raises the question as to whether potential germline predisposition should be considered in a patient with a previously unassociated congenital syndrome.
一名45岁女性,患有Usher综合征,伴有先天性耳聋,视网膜色素变性导致的进行性失明和潜在的自身免疫性糖尿病,在取出宫内节育器后出现不适,头晕和盆腔疼痛。检查发现阴道后壁肿块。实验室结果显示贫血、血小板减少和白细胞计数升高,引起对感染和糖尿病酮症酸中毒潜在发病的关注。外周血涂片检查显示60%为单核细胞。随后的阴道肿块活检显示为髓样肉瘤。分子研究表明,在第12外显子中存在npm1突变,但没有flt3突变或内部串联重复。虽然考虑了NPM1突变的急性髓性白血病的诊断,但细胞遗传学显示了一个复杂的核型,并有克隆进化的证据,与急性髓性白血病伴骨髓增生异常相关的变化一致。除了一个不寻常的髓系肉瘤的表现,这个病例提出了关于管理和追求造血干细胞移植的重要问题。Usher综合征具有遗传和临床异质性。虽然还不知道是否与恶性肿瘤风险增加有关,但在急性白血病中已经发现了与Usher综合征相关的基因突变。我们的病例提出了一个问题,即是否应该考虑潜在的种系易感性的病人与以前不相关的先天性综合征。
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引用次数: 0
Hairy Cell Leukemia Presenting as Presternal Soft Tissue Mass: A Case Report With Review of Literature 毛细胞白血病表现为胸前软组织肿块1例并文献复习
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000340
Khaled A. Murshed, A. Fadul, M. Yassin, F. Hilmi, A. Elsayed, I. Al-Bozom
FIGURE 1. PET/CT scan 1 hour after the IV administration of 304 MBq of 18F-FDG showed an irregular, infiltrative mediastinal soft tissue mass centered on the anterior mediastinum with extensions to the presternal subcutaneous region and towards the diaphragmatic crura along the dorsal aspects of the pleura with FDG-avid bilateral anterior costophrenic mediastinal lymph nodes. Abstract: Hairy cell leukemia (HCL) is an uncommon chronic lymphoproliferative disorder. Initial presentation frequently includes symptoms related to peripheral blood cytopenias. It can sometimes have atypical manifestations and can present at unusual sites. We report an unusual presentation of HCL as a presternal soft tissue mass in a 45-year-old man. His peripheral blood counts showed pancytopenia. There were no palpable lymph nodes or hepatosplenomegaly. CT-scan revealed a middle mediastinal mass with extension into the presternal soft tissue. Tissue core biopsy was taken and histopathologic findings confirmed the diagnosis of HCL. To our knowledge, this is the second reported case of HCL presenting as a presternal soft tissue mass. Although rare, HCL should be considered in the differential diagnosis of tumors involving extramedullary/extranodal sites including the soft tissue and bone, so the patient can get the utmost benefit for early diagnosis of a treatment responsive disease.
图1所示。18F-FDG静脉注射304mbq后1小时的PET/CT扫描显示,以前纵隔为中心的不规则浸润性纵隔软组织肿块,延伸至胸骨前皮下区域,沿胸膜背侧向膈脚延伸,双侧肋膈前纵隔淋巴结伴fdg阳性。摘要:毛细胞白血病(HCL)是一种罕见的慢性淋巴细胞增生性疾病。最初的表现通常包括与外周血细胞减少有关的症状。它有时有非典型的表现,可以出现在不寻常的部位。我们报告一个不寻常的HCL表现为胸骨前软组织肿块在一个45岁的男人。他的外周血计数显示全血细胞减少。未见明显淋巴结或肝脾肿大。ct扫描显示中纵隔肿块并延伸至胸骨前软组织。组织核心活检和组织病理学结果证实了HCL的诊断。据我们所知,这是第二例报道的HCL表现为胸骨前软组织肿块。虽然罕见,但在涉及髓外/结外部位(包括软组织和骨骼)肿瘤的鉴别诊断中应考虑HCL,因此患者可以在治疗反应性疾病的早期诊断中获得最大的益处。
{"title":"Hairy Cell Leukemia Presenting as Presternal Soft Tissue Mass: A Case Report With Review of Literature","authors":"Khaled A. Murshed, A. Fadul, M. Yassin, F. Hilmi, A. Elsayed, I. Al-Bozom","doi":"10.1097/PCR.0000000000000340","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000340","url":null,"abstract":"FIGURE 1. PET/CT scan 1 hour after the IV administration of 304 MBq of 18F-FDG showed an irregular, infiltrative mediastinal soft tissue mass centered on the anterior mediastinum with extensions to the presternal subcutaneous region and towards the diaphragmatic crura along the dorsal aspects of the pleura with FDG-avid bilateral anterior costophrenic mediastinal lymph nodes. Abstract: Hairy cell leukemia (HCL) is an uncommon chronic lymphoproliferative disorder. Initial presentation frequently includes symptoms related to peripheral blood cytopenias. It can sometimes have atypical manifestations and can present at unusual sites. We report an unusual presentation of HCL as a presternal soft tissue mass in a 45-year-old man. His peripheral blood counts showed pancytopenia. There were no palpable lymph nodes or hepatosplenomegaly. CT-scan revealed a middle mediastinal mass with extension into the presternal soft tissue. Tissue core biopsy was taken and histopathologic findings confirmed the diagnosis of HCL. To our knowledge, this is the second reported case of HCL presenting as a presternal soft tissue mass. Although rare, HCL should be considered in the differential diagnosis of tumors involving extramedullary/extranodal sites including the soft tissue and bone, so the patient can get the utmost benefit for early diagnosis of a treatment responsive disease.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":"110 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72571247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Chronic Myelomonocytic Leukemia in a Patient With a Germline Predisposition and Short Telomeres 一种系易感性和端粒短的慢性髓细胞白血病患者
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000345
M. Nageshwar, V. Duong, R. Koka, Z. Singh, M. Kallen
Myeloid neoplasms with germline predisposition are an increasingly recognized category within the World Health Organization classification. Detection requires a high degree of suspicion, with mounting awareness of clinically silent phenotypes and heterogeneous presentations, challenging diagnostic and laboratory testing considerations, need for surveillance of disease progression, and unique concerns in donor selection for stem cell transplantation. We describe the case of a patient who presented as a teenager with thrombocytopenia and was later diagnosed with chronic myelomonocytic leukemia, with eventual transformation to acute myeloid leukemia, which has relapsed after stem cell transplantation. She was found to have short telomeres and a TERTmutation, in addition to numerous features suggestive of a germline predisposition syndrome. These findings have not been specifically associated with chronic myelomonocytic leukemia and raise interesting questions about the associations between myelodysplastic/myeloproliferative neoplasms, telomere biology disorders, and the roles of specific myeloid mutations as drivers of disease.
髓系肿瘤与种系易感性是一个越来越认可的类别在世界卫生组织的分类。检测需要高度的怀疑,随着对临床沉默表型和异质性表现的日益认识,具有挑战性的诊断和实验室检测考虑,需要监测疾病进展,以及在干细胞移植供体选择方面的独特关注。我们描述的情况下,患者谁提出作为一个青少年血小板减少症,后来被诊断为慢性髓细胞白血病,最终转化为急性髓细胞白血病,并在干细胞移植后复发。她被发现端粒短,有TERTmutation,此外还有许多提示种系易感性综合征的特征。这些发现尚未与慢性髓单细胞白血病特异性相关,并提出了关于骨髓增生异常/骨髓增生性肿瘤、端粒生物学障碍以及特定髓系突变作为疾病驱动因素之间关系的有趣问题。
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引用次数: 0
Unclassifiable Myelodysplastic/Myeloproliferative Neoplasm With Hypocellularity: A Classification Conundrum 无法分类的骨髓增生异常/骨髓增生性肿瘤伴细胞增多:一个分类难题
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000344
Jamie Hittman, M. Nageshwar, V. Duong, Seung Tae Lee, R. Koka, Z. Singh, M. Kallen
Myelodysplastic/myeloproliferative neoplasm (MPN), unclassifiable (MDS/MPN-U), has clinical and morphologic features of both myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPNs), and does not meet diagnostic criteria for any other specific entity within MDS, MPN, or MPN, including therapy-related myeloid neoplasms, and cases evolving from a prior MDS or MPN. Diagnostic criteria for MDS/MPN-U include, among other specifications, a platelet count of greater than or equal to 450 10E9/L associatedwith bonemarrowmegakaryocytic proliferation. We present the case of a young adult patient with a several-year reported history of cytopenias, found to have thrombocytosis and 5% circulating blasts. Surprisingly, his bone marrow biopsy demonstrated hypocellularity (10%), with 5% to 10% blasts, myeloid hypoplasia, minimal fibrosis, and focal megakaryocytic dyspoiesis but no hyperplasia. The constellation of morphologic and clinical features presents a challenging differential diagnosis between MDS/MPN-U and MDS with excess blasts (as well as thrombocytosis). Molecular testing interestingly demonstrated an SF3B1mutation, although no increased ring sideroblasts were found by iron staining. Cases such as these may prove instructive in refining our understanding of the MDS/MPN category, as well as its relationship to myelodysplasia and the complex molecular genetic landscape underlying myeloid neoplasia.
骨髓增生异常/骨髓增生性肿瘤(MPN),不可分类(MDS/MPN- u),具有骨髓增生异常综合征(MDS)和骨髓增生性肿瘤(MPN)的临床和形态学特征,不符合MDS、MPN或MPN中任何其他特定实体的诊断标准,包括治疗相关的骨髓性肿瘤,以及从既往MDS或MPN发展而来的病例。MDS/MPN-U的诊断标准包括,除其他规格外,血小板计数大于或等于45010e9 /L与骨髓巨核细胞增殖相关。我们提出的情况下,一个年轻的成年患者与几年的历史报告的血细胞减少,发现有血小板增多和5%的循环母细胞。令人惊讶的是,他的骨髓活检显示细胞增生(10%),有5%至10%的原细胞,髓样发育不全,轻微纤维化,局灶性巨核细胞发育不良,但未见增生。形态学和临床特征的集合提出了MDS/MPN-U和MDS与过多的原细胞(以及血小板增多)之间具有挑战性的鉴别诊断。有趣的是,分子检测显示sf3b1突变,尽管铁染色未发现环状铁母细胞增加。这些病例可能有助于我们更好地理解MDS/MPN类型,以及MDS/MPN与骨髓异常增生的关系,以及骨髓瘤背后复杂的分子遗传格局。
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引用次数: 0
Next-Generation Sequencing Analysis in Posttransplant Relapsed Acute Myeloid Leukemia Reveals Clonal Evolution and Donor-Derived Germline Variant Indicating Bone Marrow Chimerism 移植后复发急性髓系白血病的新一代测序分析揭示了克隆进化和供体来源的种系变异表明骨髓嵌合
IF 0.2 Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000341
M. Kroloff, G. Crane, R. Press, Stephen Lee, Sarah M. Larson, Rena R. Xian
The era of next-generation sequencing (NGS) has led to a deeper understanding of the genetic complexity and heterogeneity of this disease, in addition to revealing mechanisms of disease relapse. Clinical NGS is becoming routine in clinical practice in both solid organ and hematologic malignancies to identify molecular markers of disease that might assist with diagnosis, prognosis, and the treatment of cancer. These tumor-specific markers also enable treatment response monitoring, as they serve as clonal markers unique to the disease. Continuous molecular monitoring also allows identification of disease recurrence with potentially new actionable mutations. This practice is complicated in the setting of allogeneic bone marrow transplant, as the admixtures of donor and recipient DNA pose unique challenges to NGS interpretation. This case highlights the importance of systematic methodological interpretation of NGS results to better understand the clinical significance and impact of new mutations discovered posttransplant and reveals another potential application of NGS for bone marrow engraftment analysis.
下一代测序(NGS)时代的到来使得人们对这种疾病的遗传复杂性和异质性有了更深入的了解,同时也揭示了疾病复发的机制。临床NGS正在成为实体器官和血液恶性肿瘤的常规临床实践,以确定可能有助于癌症诊断、预后和治疗的疾病分子标志物。这些肿瘤特异性标记物也能够监测治疗反应,因为它们是该疾病特有的克隆标记物。连续的分子监测也允许识别疾病复发与潜在的新的可操作的突变。这种做法在同种异体骨髓移植的情况下是复杂的,因为供体和受体DNA的混合物给NGS解释带来了独特的挑战。该病例强调了对NGS结果进行系统方法学解释的重要性,以更好地了解移植后发现的新突变的临床意义和影响,并揭示了NGS在骨髓移植分析中的另一种潜在应用。
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引用次数: 0
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