Pub Date : 2024-04-03DOI: 10.1016/j.beha.2024.101552
Hans H. Kreipe , Brigitte Schlegelberger
Chronic myeloid leukemia is defined by the presence of the Philadelphia translocation t (9; 22) resulting in the BCR::ABL1 fusion. The other myeloproliferative neoplasms (MPN) subtypes also carry typical chromosomal abnormalities, which however are not pathognomonic for a specific entity of MPN. According to the WHO classification the distinction between these entities is still based on the integration of cytological, histopathological and molecular findings. Progression of CML into accelerated and blastic phase is usually driven by additional chromosome abnormalities and ABL1 kinase mutations. In the other MPN subtypes the additional mutations besides driver gene mutations in JAK2, MPL and CALR have a decisive impact on the propensity for progression. In addition, the sequence in which the driver mutations and risk conveying additional mutations have been acquired appears to play an important role. Here, we review cytogenetic and molecular changes in CML and MPN that should be evaluated during diagnosis and disease monitoring.
{"title":"Cytogenetics and genomics in CML and other myeloproliferative neoplasms","authors":"Hans H. Kreipe , Brigitte Schlegelberger","doi":"10.1016/j.beha.2024.101552","DOIUrl":"https://doi.org/10.1016/j.beha.2024.101552","url":null,"abstract":"<div><p>Chronic myeloid leukemia is defined by the presence of the Philadelphia translocation t (9; 22) resulting in the <em>BCR::ABL1</em> fusion. The other myeloproliferative neoplasms (MPN) subtypes also carry typical chromosomal abnormalities, which however are not pathognomonic for a specific entity of MPN. According to the WHO classification the distinction between these entities is still based on the integration of cytological, histopathological and molecular findings. Progression of CML into accelerated and blastic phase is usually driven by additional chromosome abnormalities and <em>ABL1</em> kinase mutations<em>.</em> In the other MPN subtypes the additional mutations besides driver gene mutations in <em>JAK2</em>, <em>MPL</em> and <em>CALR</em> have a decisive impact on the propensity for progression. In addition, the sequence in which the driver mutations and risk conveying additional mutations have been acquired appears to play an important role. Here, we review cytogenetic and molecular changes in CML and MPN that should be evaluated during diagnosis and disease monitoring.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 2","pages":"Article 101552"},"PeriodicalIF":2.1,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000173/pdfft?md5=b5ad2665ab194c713fca304faf7b6626&pid=1-s2.0-S1521692624000173-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140545918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-01DOI: 10.1016/j.beha.2024.101551
Claudia Spielau , Carolin Bunzel , Stefan Abert , Henning Baldauf , Alexander H. Schmidt , Johannes Schetelig
Biobanking provides benefit for future generations by facilitating medical research and subsequent translation and application of research findings. Long-term storage and research involving biological material and associated data necessitate the proper implementation of ethical and legal standards. A key principle includes recognizing informed consent as a crucial element for legitimizing the collection of biological material and data. Furthermore, any collected material and data must be employed exclusively for the research framework that aligns with the explicit consent provided by the participants. Last but not least, data privacy and security are essential in biobanking. This review elucidates chances and limitations of biobanking in the field of allogeneic hematopoietic cell transplantation. We discuss the practical implementation of the requirements, illustrated by the Collaborative Biobank, a collaborative research platform for research in blood cancer.
{"title":"The Collaborative Biobank (CoBi): Donor and recipient samples & data to facilitate future research on hematopoietic cell transplantation","authors":"Claudia Spielau , Carolin Bunzel , Stefan Abert , Henning Baldauf , Alexander H. Schmidt , Johannes Schetelig","doi":"10.1016/j.beha.2024.101551","DOIUrl":"https://doi.org/10.1016/j.beha.2024.101551","url":null,"abstract":"<div><p>Biobanking provides benefit for future generations by facilitating medical research and subsequent translation and application of research findings. Long-term storage and research involving biological material and associated data necessitate the proper implementation of ethical and legal standards. A key principle includes recognizing informed consent as a crucial element for legitimizing the collection of biological material and data. Furthermore, any collected material and data must be employed exclusively for the research framework that aligns with the explicit consent provided by the participants. Last but not least, data privacy and security are essential in biobanking. This review elucidates chances and limitations of biobanking in the field of allogeneic hematopoietic cell transplantation. We discuss the practical implementation of the requirements, illustrated by the Collaborative Biobank, a collaborative research platform for research in blood cancer.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 2","pages":"Article 101551"},"PeriodicalIF":2.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000161/pdfft?md5=f96424adfe1772d4940807585220695e&pid=1-s2.0-S1521692624000161-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140545919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.1016/j.beha.2024.101541
Alexander H. Schmidt , Jürgen Sauter , Johannes Schetelig , Elke Neujahr , Julia Pingel
Allogeneic hematopoietic stem cell (HSC) transplantation is a curative therapy for many severe blood diseases. As many patients have no suitable family donor, large unrelated donor registries and donor centers have been established in many countries, along with an international system for the provision of unrelated donor HSC products. As an essential part of this system, DKMS operates donor centers in 7 countries with a total of 12.2 million donors and over 114,000 donations so far, and a multinational donor registry. In 2022, DKMS donors contributed 57.5% of all cross-border donations worldwide. In this review, we describe the international system for the provision of unrelated donor HSC products as well as tasks and responsibilities of donor registries and donor centers. We also discuss relevant aspects of DKMS donor centers, namely donor file composition, matching and donation probabilities and actual donations, and the unique multinational approach of the DKMS Registry.
{"title":"Providing hematopoietic stem cell products from unrelated donors to the world: DKMS donor centers and DKMS Registry","authors":"Alexander H. Schmidt , Jürgen Sauter , Johannes Schetelig , Elke Neujahr , Julia Pingel","doi":"10.1016/j.beha.2024.101541","DOIUrl":"10.1016/j.beha.2024.101541","url":null,"abstract":"<div><p>Allogeneic hematopoietic stem cell (HSC) transplantation is a curative therapy for many severe blood diseases. As many patients have no suitable family donor, large unrelated donor registries and donor centers have been established in many countries, along with an international system for the provision of unrelated donor HSC products. As an essential part of this system, DKMS operates donor centers in 7 countries with a total of 12.2 million donors and over 114,000 donations so far, and a multinational donor registry. In 2022, DKMS donors contributed 57.5% of all cross-border donations worldwide. In this review, we describe the international system for the provision of unrelated donor HSC products as well as tasks and responsibilities of donor registries and donor centers. We also discuss relevant aspects of DKMS donor centers, namely donor file composition, matching and donation probabilities and actual donations, and the unique multinational approach of the DKMS Registry.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101541"},"PeriodicalIF":2.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000069/pdfft?md5=bfe217d3a37e0a08be6bbce658f3e4af&pid=1-s2.0-S1521692624000069-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140019956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.1016/j.beha.2024.101539
Yvonne Lisa Behrens , Stefan Pietzsch , Željko Antić , Yanming Zhang , Anke K. Bergmann
Improvements made during the last decades in the management of patients with hematologic neoplasia have resulted in increase of overall survival. These advancements have become possible through progress in our understanding of genetic basis of different hematologic malignancies and their role in the current risk-adapted treatment protocols. In this review, we provide an overview of current cytogenetic and molecular genetic methods, commonly used in the genetic characterization of hematologic malignancies, describe the current developments in the cytogenetic and molecular diagnostics, and give an outlook into their future development. Furthermore, we give a brief overview of the most important public databases and guidelines for sequence variant interpretation.
{"title":"The landscape of cytogenetic and molecular genetic methods in diagnostics for hematologic neoplasia","authors":"Yvonne Lisa Behrens , Stefan Pietzsch , Željko Antić , Yanming Zhang , Anke K. Bergmann","doi":"10.1016/j.beha.2024.101539","DOIUrl":"10.1016/j.beha.2024.101539","url":null,"abstract":"<div><p>Improvements made during the last decades in the management of patients with hematologic neoplasia have resulted in increase of overall survival. These advancements have become possible through progress in our understanding of genetic basis of different hematologic malignancies and their role in the current risk-adapted treatment protocols. In this review, we provide an overview of current cytogenetic and molecular genetic methods, commonly used in the genetic characterization of hematologic malignancies, describe the current developments in the cytogenetic and molecular diagnostics, and give an outlook into their future development. Furthermore, we give a brief overview of the most important public databases and guidelines for sequence variant interpretation.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101539"},"PeriodicalIF":2.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000045/pdfft?md5=2ddb1b232f871880768ba9fa82aa3c44&pid=1-s2.0-S1521692624000045-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139767156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-23DOI: 10.1016/j.beha.2024.101540
Ruta Brazauskas , Mary Eapen , Tao Wang
{"title":"Corrigendum to “Endpoint selection and evaluation in hematology studies” [Best Pract Res Clin Haematol 36 (2023) 101479]","authors":"Ruta Brazauskas , Mary Eapen , Tao Wang","doi":"10.1016/j.beha.2024.101540","DOIUrl":"https://doi.org/10.1016/j.beha.2024.101540","url":null,"abstract":"","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101540"},"PeriodicalIF":2.1,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000057/pdfft?md5=85c877516a7da0bfa4ec6463ae9d8879&pid=1-s2.0-S1521692624000057-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139936223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-02DOI: 10.1016/j.beha.2024.101538
Michael J. Martens , Yan Gao , Aniko Szabo
{"title":"Corrigendum to “Designing and conducting a clinical trial in blood and marrow transplantation” [Best Pract Res Clin Haematol 36 (2023) 101471]","authors":"Michael J. Martens , Yan Gao , Aniko Szabo","doi":"10.1016/j.beha.2024.101538","DOIUrl":"10.1016/j.beha.2024.101538","url":null,"abstract":"","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101538"},"PeriodicalIF":2.1,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000033/pdfft?md5=c0e259ee94c446fc36e1d9f7be40dc0e&pid=1-s2.0-S1521692624000033-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139666780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.beha.2024.101537
Amy M. Trottier , Simone Feurstein , Lucy A. Godley
Myeloid neoplasms with germline predisposition have been recognized increasingly over the past decade with numerous newly described disorders. Penetrance, age of onset, phenotypic heterogeneity, and somatic driver events differ widely among these conditions and sometimes even within family members with the same variant, making risk assessment and counseling of these individuals inherently difficult. In this review, we will shed light on high malignant penetrance (e.g., CEBPA, GATA2, SAMD9/SAMD9L, and TP53) versus variable malignant penetrance syndromes (e.g., ANKRD26, DDX41, ETV6, RUNX1, and various bone marrow failure syndromes) and their clinical features, such as variant type and location, course of disease, and prognostic markers. We further discuss the recommended management of these syndromes based on penetrance with an emphasis on somatic aberrations consistent with disease progression/transformation and suggested timing of allogeneic hematopoietic stem cell transplant. This review will thereby provide important data that can help to individualize and improve the management for these patients.
{"title":"Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders","authors":"Amy M. Trottier , Simone Feurstein , Lucy A. Godley","doi":"10.1016/j.beha.2024.101537","DOIUrl":"10.1016/j.beha.2024.101537","url":null,"abstract":"<div><p>Myeloid neoplasms with germline predisposition have been recognized increasingly over the past decade with numerous newly described disorders. Penetrance, age of onset, phenotypic heterogeneity, and somatic driver events differ widely among these conditions and sometimes even within family members with the same variant, making risk assessment and counseling of these individuals inherently difficult. In this review, we will shed light on high malignant penetrance (<em>e.g., CEBPA</em>, <em>GATA2</em>, <em>SAMD9/SAMD9L</em>, and <em>TP53</em>) versus variable malignant penetrance syndromes (<em>e.g., ANKRD26</em>, <em>DDX41</em>, <em>ETV6</em>, <em>RUNX1</em>, and various bone marrow failure syndromes) and their clinical features, such as variant type and location, course of disease, and prognostic markers. We further discuss the recommended management of these syndromes based on penetrance with an emphasis on somatic aberrations consistent with disease progression/transformation and suggested timing of allogeneic hematopoietic stem cell transplant. This review will thereby provide important data that can help to individualize and improve the management for these patients.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101537"},"PeriodicalIF":2.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000021/pdfft?md5=434924e2890f256b2ed74257036368bf&pid=1-s2.0-S1521692624000021-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139666788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-27DOI: 10.1016/j.beha.2024.101536
Francesco Passamonti , Giovanni Corrao , Gastone Castellani , Barbara Mora , Giulia Maggioni , Matteo Giovanni Della Porta , Robert Peter Gale
Most new drug approvals are based on data from large randomized clinical trials (RCTs). However, there are sometimes contradictory conclusions from seemingly similar trials and generalizability of conclusions from these trials is limited. These considerations explain, in part, the gap between conclusions from data of RCTs and those from registries termed real world data (RWD). Recently, real-world evidence (RWE) from RWD processed by artificial intelligence has received increasing attention. We describe the potential of using RWD in haematology concluding RWE from RWD may complement data from RCTs to support regulatory decisions.
{"title":"Using real-world evidence in haematology","authors":"Francesco Passamonti , Giovanni Corrao , Gastone Castellani , Barbara Mora , Giulia Maggioni , Matteo Giovanni Della Porta , Robert Peter Gale","doi":"10.1016/j.beha.2024.101536","DOIUrl":"10.1016/j.beha.2024.101536","url":null,"abstract":"<div><p>Most new drug approvals are based on data from large randomized clinical trials (RCTs). However, there are sometimes contradictory conclusions from seemingly similar trials and generalizability of conclusions from these trials is limited. These considerations explain, in part, the gap between conclusions from data of RCTs and those from registries termed <em>real world</em> data (RWD). Recently, real-world evidence (RWE) from RWD processed by artificial intelligence has received increasing attention. We describe the potential of using RWD in haematology concluding RWE from RWD may complement data from RCTs to support regulatory decisions.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101536"},"PeriodicalIF":2.1,"publicationDate":"2024-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S152169262400001X/pdfft?md5=ce02dba5d3f64aa5c6050ac34fcef4c1&pid=1-s2.0-S152169262400001X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139585345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-10DOI: 10.1016/j.beha.2023.101533
Oraine Snaith , Corey Poveda-Rogers , Dorottya Laczko , Guang Yang , Jennifer J.D. Morrissette
The diversity of genetic and genomic abnormalities observed in acute myeloid leukemia (AML) reflects the complexity of these hematologic neoplasms. The detection of cytogenetic and molecular alterations is fundamental to diagnosis, risk stratification and treatment of AML. Chromosome rearrangements are well established in the diagnostic classification of AML, as are some gene mutations, in several international classification systems. Additionally, the detection of new mutational profiles at relapse and identification of mutations in the pre- and post-transplant settings are illuminating in understanding disease evolution and are relevant to the risk assessment of AML patients. In this review, we discuss recurrent cytogenetic abnormalities, as well as the detection of recurrent mutations, within the context of a normal karyotype, and in the setting of chromosome abnormalities. Two new classification schemes from the WHO and ICC are described, comparing these classifications in terms of diagnostic criteria and entity definition in AML. Finally, we discuss ways in which genomic sequencing can condense the detection of gene mutations and chromosome abnormalities into a single assay.
{"title":"Cytogenetics and genomics of acute myeloid leukemia","authors":"Oraine Snaith , Corey Poveda-Rogers , Dorottya Laczko , Guang Yang , Jennifer J.D. Morrissette","doi":"10.1016/j.beha.2023.101533","DOIUrl":"10.1016/j.beha.2023.101533","url":null,"abstract":"<div><p>The diversity of genetic and genomic abnormalities observed in acute myeloid leukemia (AML) reflects the complexity of these hematologic neoplasms. The detection of cytogenetic and molecular alterations is fundamental to diagnosis, risk stratification and treatment of AML. Chromosome rearrangements are well established in the diagnostic classification of AML, as are some gene mutations, in several international classification systems. Additionally, the detection of new mutational profiles at relapse and identification of mutations in the pre- and post-transplant settings are illuminating in understanding disease evolution and are relevant to the risk assessment of AML patients. In this review, we discuss recurrent cytogenetic abnormalities, as well as the detection of recurrent mutations, within the context of a normal karyotype, and in the setting of chromosome abnormalities. Two new classification schemes from the WHO and ICC are described, comparing these classifications in terms of diagnostic criteria and entity definition in AML. Finally, we discuss ways in which genomic sequencing can condense the detection of gene mutations and chromosome abnormalities into a single assay.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101533"},"PeriodicalIF":2.1,"publicationDate":"2023-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692623000944/pdfft?md5=2da75fb4e7417ed7f830254945a2a074&pid=1-s2.0-S1521692623000944-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138562662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01DOI: 10.1016/j.beha.2023.101525
Stephanie M. Wong
Childhood and young adult survivors of Hodgkin lymphoma are at an elevated risk of developing breast cancer. Breast cancer risk is felt to originate from chest wall radiation exposure prior to the third decade of life, with incidence beginning to rise approximately eight to ten years following Hodgkin lymphoma treatment. Although incidence varies according to age at radiation exposure, dosage, and treatment fields, cohort studies have documented a cumulative incidence of breast cancer of 10–20% by 40 years of age. Women with a history of chest radiation for Hodgkin lymphoma are counselled to begin screening with bilateral breast MRI at 25 years of age, or eight years after radiation, whichever occurs later. Outside of high-risk surveillance, the optimal management approach for women with prior radiation exposure continues to evolve. When diagnosed with breast malignancy, evidence supports consideration of unilateral therapeutic and contralateral prophylactic mastectomy, although breast conserving surgery may be considered following multidisciplinary assessment. This review will address the epidemiology, characteristics, screening and management guidelines, and breast-cancer prevention efforts for Hodgkin lymphoma survivors treated with radiation therapy in adolescence and young adulthood.
{"title":"Best practice & research clinical haematology: Screening for breast cancer in hodgkin lymphoma survivors","authors":"Stephanie M. Wong","doi":"10.1016/j.beha.2023.101525","DOIUrl":"https://doi.org/10.1016/j.beha.2023.101525","url":null,"abstract":"<div><p><span><span><span><span><span>Childhood and young adult survivors of Hodgkin lymphoma are at an elevated risk of developing breast cancer. Breast cancer risk is felt to originate from chest wall radiation exposure prior to the third decade of life, with incidence beginning to rise approximately eight to ten years following Hodgkin lymphoma </span>treatment. Although incidence varies according to age at radiation exposure, dosage, and treatment fields, </span>cohort studies have documented a cumulative incidence of breast cancer of 10–20% by 40 years of age. Women with a history of chest radiation for Hodgkin lymphoma are counselled to begin screening with bilateral </span>breast MRI at 25 years of age, or eight years after radiation, whichever occurs later. Outside of high-risk surveillance, the optimal management approach for women with prior radiation exposure continues to evolve. When diagnosed with breast </span>malignancy<span>, evidence supports consideration of unilateral therapeutic and contralateral<span><span> prophylactic mastectomy, although </span>breast conserving surgery may be considered following multidisciplinary assessment. This review will address the </span></span></span>epidemiology, characteristics, screening and management guidelines, and breast-cancer prevention efforts for Hodgkin lymphoma survivors treated with radiation therapy in adolescence and young adulthood.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101525"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138474992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}