Hemato Pub Date : 2022-10-17 DOI: 10.3390/hemato3040045

Johannes P. M. van de Mortel, S. D’Sa, A. Vrancken, N. Notermans, J. Vos, M. Minnema

{"title":"Polyneuropathy Associated with IgM Monoclonal Gammopathy; Advances in Genetics and Treatment, Focusing on Anti-MAG Antibodies","authors":"Johannes P. M. van de Mortel, S. D’Sa, A. Vrancken, N. Notermans, J. Vos, M. Minnema","doi":"10.3390/hemato3040045","DOIUrl":"https://doi.org/10.3390/hemato3040045","url":null,"abstract":"With increasing age, the chances of developing either MGUS or polyneuropathy increase as well. In some cases, there is a causative relationship between the IgM M-protein and polyneuropathy. In approximately half of these cases, IgM targets the myelin-associated glycoprotein (MAG). This results in chronic polyneuropathy with slowly progressive, predominantly sensory neurological deficits and distally demyelinating features in nerve conduction studies. Despite the disease being chronic and developing slowly, it can cause considerable impairment. We reviewed English medical publications between 1980 and May 2022 on IgM gammopathy-associated polyneuropathy, with special attention to studies addressing the pathophysiology or treatment of anti-MAG polyneuropathy. Treatment options have been limited to a temporizing effect of intravenous immunoglobulins in some patients and a more sustained effect of rituximab but in only 30 to 55 percent of patients. An increase in our knowledge concerning genetic mutations, particularly the MYD88L265P mutation, led to the development of novel targeted treatment options such as BTK inhibitors. Similarly, due to the increasing knowledge of the pathophysiology of anti-MAG polyneuropathy, new treatment options are emerging. Since anti-MAG polyneuropathy is a rare disease with diverse symptomatology, large trials with good outcome measures are a challenge.","PeriodicalId":93705,"journal":{"name":"Hemato","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42939076","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: 1

Transformed Waldenström Macroglobulinemia: Update on Diagnosis, Prognosis and Treatment 转化型Waldenström巨球蛋白血症的诊断、预后和治疗进展

Hemato Pub Date : 2022-10-12 DOI: 10.3390/hemato3040044

E. Durot, C. Tomowiak, E. Toussaint, P. Morel, D. Talaulikar, P. Kapoor, J. Castillo, A. Delmer

{"title":"Transformed Waldenström Macroglobulinemia: Update on Diagnosis, Prognosis and Treatment","authors":"E. Durot, C. Tomowiak, E. Toussaint, P. Morel, D. Talaulikar, P. Kapoor, J. Castillo, A. Delmer","doi":"10.3390/hemato3040044","DOIUrl":"https://doi.org/10.3390/hemato3040044","url":null,"abstract":"Histological transformation (HT) to an aggressive lymphoma results from a rare evolution of Waldenström macroglobulinemia (WM). A higher incidence of transformation events has been reported in MYD88 wild-type WM patients. HT in WM can be histologically heterogeneous, although the diffuse large B-cell lymphoma of activated B-cell subtype is the predominant pathologic entity. The pathophysiology of HT is largely unknown. The clinical suspicion of HT is based on physical deterioration and the rapid enlargement of the lymph nodes in WM patients. Most transformed WM patients present with elevated serum lactate dehydrogenase (LDH) and extranodal disease. A histologic confirmation regarding the transformation to a higher-grade lymphoma is mandatory for the diagnosis of HT, and the choice of the biopsy site may be dictated by the findings of the 18fluorodeoxyglucose-positron emission tomography/computed tomography. The prognosis of HT in WM is unfavorable, with a significantly inferior outcome compared to WM patients without HT. A validated prognostic score based on 3 adverse risk factors (elevated LDH, platelet count < 100 × 109/L and any previous treatment for WM) stratifies patients into 3 risk groups. The most common initial treatment used is a chemo-immunotherapy (CIT), such as R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone). The response duration is short and central nervous system relapses are frequent. Whether autologous stem cell transplantation could benefit fit patients responding to CIT remains to be studied.","PeriodicalId":93705,"journal":{"name":"Hemato","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45005807","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: 1

B Lymphoproliferative Neoplasms of Uncertain Biological Significance: Report from the IV Workshop of the Italian Group of Hematopathology and Review of the Literature 生物学意义不确定的B淋巴增生性肿瘤：来自意大利血液病理学小组第四次研讨会的报告和文献综述

Hemato Pub Date : 2022-10-03 DOI: 10.3390/hemato3040043

G. Di Stefano, F. Magnoli, M. Granai, Federico Vittone, R. Santi, D. Ferrara, E. Boveri, A. Florena, F. Fend, E. Sabattini, M. Paulli, M. Ponzoni, S. Lazzi, S. Pileri, L. Leoncini

{"title":"B Lymphoproliferative Neoplasms of Uncertain Biological Significance: Report from the IV Workshop of the Italian Group of Hematopathology and Review of the Literature","authors":"G. Di Stefano, F. Magnoli, M. Granai, Federico Vittone, R. Santi, D. Ferrara, E. Boveri, A. Florena, F. Fend, E. Sabattini, M. Paulli, M. Ponzoni, S. Lazzi, S. Pileri, L. Leoncini","doi":"10.3390/hemato3040043","DOIUrl":"https://doi.org/10.3390/hemato3040043","url":null,"abstract":"Lymphoproliferative neoplasms of uncertain biological significance are increasingly encountered due to widespread usage of immunophenotypic and molecular techniques. Considering that clearer biological criteria and patient management have been established for B-cell lymphoproliferative diseases of undetermined significance occurring in the peripheral blood, many issues are still obscure for early lesions detected in lymphoid tissues. Regardless that some categories of lymphoproliferative neoplasms of uncertain biological significance have been recognized by the 4th edition of the WHO, other anecdotal early lymphoproliferative lesions still remain fully undefined. Some early lesions frequently originate from the germinal center, including atypical germinal centers BCL2-negative, an early pattern of large B-cell lymphoma with IRF4 rearrangement, and “in situ” high-grade B lymphomas. Moreover, other early lymphoproliferative lesions arise outside the germinal center and include those developing within the setting of monocytoid B-cell hyperplasia, but they also can be directly or indirectly associated with chronic inflammations. This review aims to summarize the concepts discussed during the IV Workshop organized by the Italian Group of Hematopathology, focus on the state-of-the-art on B-cell lymphoproliferative neoplasms of uncertain biological significance, and offer operative insights to pathologists and clinicians in routine diagnostics.","PeriodicalId":93705,"journal":{"name":"Hemato","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49638814","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

Genetics of Transformed Follicular Lymphoma 转化性滤泡淋巴瘤的遗传学

Hemato Pub Date : 2022-10-01 DOI: 10.3390/hemato3040042

M. Alcoceba, M. García-Álvarez, J. Okosun, S. Ferrero, M. Ladetto, J. Fitzgibbon, R. García-Sanz

引用次数: 1

Molecular Pathogenesis of Follicular Lymphoma: From Genetics to Clinical Practice 毛囊淋巴瘤的分子发病机制：从遗传学到临床实践

Hemato Pub Date : 2022-09-26 DOI: 10.3390/hemato3040041

C. López, P. Mozas, A. López-Guillermo, S. Beà

{"title":"Molecular Pathogenesis of Follicular Lymphoma: From Genetics to Clinical Practice","authors":"C. López, P. Mozas, A. López-Guillermo, S. Beà","doi":"10.3390/hemato3040041","DOIUrl":"https://doi.org/10.3390/hemato3040041","url":null,"abstract":"Follicular lymphoma (FL), a generally indolent disease that derives from germinal center (GC) B cells, represents around 20–25% of all new lymphomas diagnosed in Western countries. The characteristic t(14;18)(q32;q21) translocation that places the BCL2 oncogene under control of the immunoglobulin heavy-chain enhancer occurs in pro- or pre-B cells. However, additional secondary alterations are required for the development of overt FL, which mainly affects genes involved in epigenetic and transcriptional regulation, signaling and B cell differentiation, the BCR/NF-κB pathway, and proliferation/apoptosis. On the other hand, new insights into the FL pathogenesis suggest that FL lacking the BCL2 translocation might be a distinct biological entity with genomic features different from the classical FL. Although FL is considered an indolent disease, around 10–20% of cases eventually transform to an aggressive lymphoma, usually a diffuse large B cell lymphoma, generally by a divergent evolution process from a common altered precursor cell acquiring genomic alterations involved in the cell cycle and DNA damage responses. Importantly, FL tumor cells require interaction with the microenvironment, which sustains cell survival and proliferation. Although the use of rituximab has improved the outlook of most FL patients, further genomic studies are needed to identify those of high risk who can benefit from innovative therapies. This review provides an updated synopsis of FL, including the molecular and cellular pathogenesis, key events of transformation, and targeted treatments.","PeriodicalId":93705,"journal":{"name":"Hemato","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47026247","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: 4

Cold Agglutinin Disease: Improved Understanding of Pathogenesis Helps Define Targets for Therapy 冷凝集素病:提高对发病机制的理解有助于确定治疗目标

Hemato Pub Date : 2022-09-20 DOI: 10.3390/hemato3040040

S. Berentsen, S. D’Sa, U. Randen, A. Małecka, J. Vos

引用次数: 3

Extramedullary Hematopoiesis in Myelodysplastic Syndromes: A Systematic Literature Review 骨髓增生异常综合征的髓外造血:系统文献综述

Hemato Pub Date : 2022-09-19 DOI: 10.3390/hemato3030039

Chen Wang, Yiyun Shi

引用次数: 0

Genome-Based Medicine for Acute Myeloid Leukemia: Study and Targeting of Molecular Alterations and Use of Minimal Residual Disease as a Biomarker 急性髓细胞白血病的基因组医学：分子改变的研究和靶向性以及最小残留疾病作为生物标志物的应用

Hemato Pub Date : 2022-09-06 DOI: 10.3390/hemato3030038

U. Testa, G. Castelli, E. Pelosi

{"title":"Genome-Based Medicine for Acute Myeloid Leukemia: Study and Targeting of Molecular Alterations and Use of Minimal Residual Disease as a Biomarker","authors":"U. Testa, G. Castelli, E. Pelosi","doi":"10.3390/hemato3030038","DOIUrl":"https://doi.org/10.3390/hemato3030038","url":null,"abstract":"Acute myeloid leukemia (AML) is a highly heterogeneous hematologic malignancy characterized by the clonal proliferation of hematopoietic stem and progenitor cells (HSPCs) and blockade of differentiation and proliferation of immature myeloid cells that accumulate in bone marrow at the expense of normal hematopoiesis. AMLs originate from the expansion of HSPCs progressively acquiring somatic mutations. The development of high-throughput sequencing techniques has helped to discover the genetic heterogeneity and complexity of AMLs, revise diagnostic and prognostic criteria, and to identify new therapeutic targets. These studies have allowed the identification of several recurrent driver mutations and the definition of a rational molecular classification of these tumors. In parallel, the development of techniques for the determination of single-cell mutational profiling has considerably contributed to understanding the clonal heterogeneity and evolution of AMLs. The acquisition of these genetic data coupled with the identification of molecular therapeutic targets has determined a considerable expansion of the therapeutic armamentarium, with the development of several new drugs highly active against specific AML subtypes. These developments have increased the interest and the need for sensitive techniques for the identification of minimal residual disease, the population of leukemia cells that survives despite morphological remission and causes disease relapse.","PeriodicalId":93705,"journal":{"name":"Hemato","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43584912","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

Lymphomas in People Living with HIV 艾滋病毒感染者的淋巴瘤

Hemato Pub Date : 2022-09-06 DOI: 10.3390/hemato3030037

E. Vaccher, A. Gloghini, Chiara C. Volpi, A. Carbone

{"title":"Lymphomas in People Living with HIV","authors":"E. Vaccher, A. Gloghini, Chiara C. Volpi, A. Carbone","doi":"10.3390/hemato3030037","DOIUrl":"https://doi.org/10.3390/hemato3030037","url":null,"abstract":"Lymphomas in people living with HIV (PLWH) are associated with Epstein Barr virus (EBV) and Kaposi-sarcoma-associated herpesvirus (KSHV). They include primary effusion lymphoma, large B-cell lymphoma arising in multicentric Castleman disease, plasmablastic lymphoma, Burkitt lymphoma, diffuse large B-cell lymphoma, and Hodgkin lymphoma (HL). Inclusion of these lymphomas in the WHO classification of tumors of hematopoietic and lymphoid tissues and the increasing recognition of these disorders have resulted in established clinical management that has led to improved outcomes. In this review, we report on the current management in lymphomas occurring in PLWH with an emphasis on KSHV-associated disorders and EBV-related HL. We also report on the simultaneous occurrence of KSHV- and EBV-associated disorders and highlight preventive measures that have been planned for tumor prevention in PLWH. In conclusion, it is recommended that treatment choice for PLWH affected by lymphoma, and receiving effective combined antiretroviral therapy (cART), should not be influenced by HIV status. Moreover, there is an urgent need (1) to reduce the current large disparities in health care between HIV-infected and HIV-uninfected populations, (2) to disseminate effective treatment, and (3) to implement preventive strategies for PLWH.","PeriodicalId":93705,"journal":{"name":"Hemato","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44916081","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: 1

Risk Factors and Risk Stratification of Thromboembolic Risk in Patients with Multiple Myeloma 多发性骨髓瘤患者血栓栓塞危险因素及危险分层

Hemato Pub Date : 2022-08-29 DOI: 10.3390/hemato3030036

Roza Chaireti, H. Nahi

引用次数: 0

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