AJSP-Reviews and Reports最新文献_第6页

Myeloid Neoplasia and Other Leukemias 髓样肿瘤和其他白血病

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/pcr.0000000000000346

M. Kallen, Z. Singh

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

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000342

M. Sukhanova, Charles Van Slambrouck, K. Yap, Sonali M. Smith, S. Gurbuxani, G. Venkataraman

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

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000338

Ying Liu, Elham Vali-Betts, N. Ku

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

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000339

Ruijun Su, J. Said, M. Kallen, Chayanit Jumniensuk, S. Pullarkat

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

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AJSP-Reviews and Reports 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

{"title":"Soft Tissue Fibroblastic Reticular Cell Tumor With Whole-Exome Sequencing Findings: An Unexpected Presentation of Lynch Syndrome","authors":"Liurka V Lopez, Daniel F Marker, N. Bailey, Yen‐Chun Liu, Richard L. Mcgough, A. Singhi, I. John","doi":"10.1097/PCR.0000000000000337","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000337","url":null,"abstract":"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.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":"1 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74712474","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: 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

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000343

C. R. Barron, G. Crane

{"title":"Unusual Presentation of Myeloid Sarcoma in a Patient With Usher Syndrome","authors":"C. R. Barron, G. Crane","doi":"10.1097/PCR.0000000000000343","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000343","url":null,"abstract":"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.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":"105 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80773366","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

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

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000340

Khaled A. Murshed, A. Fadul, M. Yassin, F. Hilmi, A. Elsayed, I. Al-Bozom

{"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

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000345

M. Nageshwar, V. Duong, R. Koka, Z. Singh, M. Kallen

{"title":"Chronic Myelomonocytic Leukemia in a Patient With a Germline Predisposition and Short Telomeres","authors":"M. Nageshwar, V. Duong, R. Koka, Z. Singh, M. Kallen","doi":"10.1097/PCR.0000000000000345","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000345","url":null,"abstract":"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.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":"7 3","pages":""},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72590053","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

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

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AJSP-Reviews and Reports 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

{"title":"Unclassifiable Myelodysplastic/Myeloproliferative Neoplasm With Hypocellularity: A Classification Conundrum","authors":"Jamie Hittman, M. Nageshwar, V. Duong, Seung Tae Lee, R. Koka, Z. Singh, M. Kallen","doi":"10.1097/PCR.0000000000000344","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000344","url":null,"abstract":"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.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":"51 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76769163","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

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

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI: 10.1097/PCR.0000000000000341

M. Kroloff, G. Crane, R. Press, Stephen Lee, Sarah M. Larson, Rena R. Xian

{"title":"Next-Generation Sequencing Analysis in Posttransplant Relapsed Acute Myeloid Leukemia Reveals Clonal Evolution and Donor-Derived Germline Variant Indicating Bone Marrow Chimerism","authors":"M. Kroloff, G. Crane, R. Press, Stephen Lee, Sarah M. Larson, Rena R. Xian","doi":"10.1097/PCR.0000000000000341","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000341","url":null,"abstract":"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.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":"96 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75954783","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