[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-seo-336957-105":3,"detail-sidebar-cat-0-en-105":81,"doc-detail-336957-en":130},{"code":4,"msg":5,"data":6},0,"ok",{"site_id":7,"language":8,"slug":9,"title":10,"keywords":11,"description":12,"schema_data":13,"social_meta":74,"head_meta":76,"extra_data":78,"updated_unix":80},105,"en","rare-case-of-myelodysplastic-syndrome-with-excess-blasts-2-developing-after-adjuvant-chemoradiotherapy-for-triple-negative-breast-cancer-in-a-patient-with-bloom-syndrome-case-study","Rare case of myelodysplastic syndrome with excess blasts 2 developing after adjuvant chemoradiotherapy for triple-negative breast cancer in a patient with Bloom syndrome - Case study","","Rare autosomal recessive Bloom syndrome (BS) causes loss-of-function mutation in the BLM gene and leads to marked sensitivity to DNA-damaging chemotherapy and ionizing radiation, complicating cancer management. The report describes a 30-year-old woman with early-stage triple-negative breast cancer treated with doxorubicin/cyclophosphamide followed by paclitaxel and curative radiotherapy, later developing pancytopenia and MDS-EB2. After azacitidine, febrile neutropenia and sepsis occurred, and the patient died at 33.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/rare-case-of-myelodysplastic-syndrome-with-excess-blasts-2-developing-after-adjuvant-chemoradiotherapy-for-triple-negative-breast-cancer-in-a-patient-with-bloom-syndrome-case-study/336957/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/rare-case-of-myelodysplastic-syndrome-with-excess-blasts-2-developing-after-adjuvant-chemoradiotherapy-for-triple-negative-breast-cancer-in-a-patient-with-bloom-syndrome-case-study/336957.png","ImageObject",300,407,{"name":42,"@type":43},"Eden","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-27","2026-09-21",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",6,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What is Bloom syndrome and why does it matter for cancer treatment?","Question",{"text":63,"@type":64},"Bloom syndrome is a rare autosomal recessive disorder caused by loss-of-function mutation in the BLM gene. Patients show significant sensitivity to DNA-damaging chemotherapy and ionizing radiation, increasing toxicity risk and complicating cancer management.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"What treatment did the patient receive for triple-negative breast cancer?",{"text":68,"@type":64},"The patient received four cycles of doxorubicin plus cyclophosphamide, followed by weekly paclitaxel for 12 weeks, and 5000 cGy curative radiotherapy.",{"name":70,"@type":61,"acceptedAnswer":71},"How did myelodysplastic syndrome with excess blasts 2 develop in the case?",{"text":72,"@type":64},"Eight months after therapy, pancytopenia occurred and bone marrow biopsy led to a diagnosis of MDS-EB2. Two courses of azacitidine were administered, but later febrile neutropenia and sepsis developed, and the patient died.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},336957,1790645857,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,105,109,114,119,122,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":89,"show_sort_weight":90,"slug":91},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":93,"show_sort_weight":94,"slug":95},"Exam",70,"exam",{"id":97,"doc_module":4,"doc_module_name":25,"category_name":98,"show_sort_weight":99,"slug":100},5,"Comic",60,"comic",{"id":55,"doc_module":4,"doc_module_name":25,"category_name":102,"show_sort_weight":103,"slug":104},"Technology",50,"technology",{"id":106,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":107,"slug":108},7,40,"healthcare",{"id":110,"doc_module":4,"doc_module_name":25,"category_name":111,"show_sort_weight":112,"slug":113},8,"Research & Report",30,"research-report",{"id":115,"doc_module":4,"doc_module_name":25,"category_name":116,"show_sort_weight":117,"slug":118},9,"Religion & Spirituality",20,"religion-spirituality",{"id":117,"doc_module":4,"doc_module_name":25,"category_name":120,"show_sort_weight":117,"slug":121},"World Cup","world-cup",{"id":123,"doc_module":4,"doc_module_name":25,"category_name":124,"show_sort_weight":123,"slug":125},10,"Lifestyle","lifestyle",{"id":127,"doc_module":4,"doc_module_name":25,"category_name":128,"show_sort_weight":97,"slug":129},19,"General","general",{"code":4,"msg":82,"data":131},{"doc_id":79,"user_id":132,"nickname":42,"user_avatar":133,"doc_module":4,"category_id":106,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":97,"language":139,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":12,"update_tm":143,"read_time":144},1374391974468,"https://ap-avatar.wpscdn.com/davatar_29158cc5080c5b710cf443261637dec0","Strahlentherapie und Onkologie (2024) 200:986–990 [https://doi.org/10.1007/s00066-024-02257-z](https://doi.org/10.1007/s00066-024-02257-z)  \nCASE STUDY  \nRare case of myelodysplastic syndrome with excess blasts 2 developing after adjuvant chemoradiotherapy for triple-negative breast cancer ina patient with Bloom syndrome  \nAli Fuat Gürbüz1  · Melek Karakurt Eryılmaz1 · Oğuzhan Yıldız1 · Fahriye Kılınç2 · Murat Araz1 · Mehmet Artaç1  \nReceived: 27 February 2024 / Accepted: 13 June 2024 / Published online: 12 July 2024 © The Author(s) 2024  \nAbstract  \nIntroduction Bloom syndrome (BS) is a rare autosomal recessive disorder caused by a loss-of-function mutation in the BLM gene encoding an RecQ helicase involved in DNA repair and maintenance of chromosomal stability. In patients with BS, significant sensitivity to both DNA-damaging chemotherapy (CT) and ionizing radiation complicates the management of neoplasms by exacerbating comorbidities and predisposing to toxicities and poor outcomes.  \nCase report A 30-year-old female patient diagnosed with BS who presented with early-stage triple-negative breast cancer was treated with four cycles of doxorubicin (60mg/m2) and cyclophosphamide (600mg/m2) followed by weekly paclitaxel (80mg/m2) for 12 weeks as the chemotherapy protocol and a total of 5000 cGy curative radiotherapy (RT) . Due topancytopenia 8 months after completion of therapy, bone marrow biopsy and aspiration were performed, and a diagnosis of myelodysplastic syndrome with excess blasts 2 (MDS-EB2) was made. Two courses of the azacitidine (75mg/m2) protocol were administered every 28 days in the hematology clinic. Two weeks after CT the patient was transferred from the emergency department to the hematology clinic with the diagnosis of pancytopenia and febrile neutropenia. She died at the age of 33 due to sepsis that developed during follow-up.  \nConclusion Due to the rarity of BS, there is no prospective trial in patients with cancer and no evidence base upon which to design treatment programs. For these reasons, it is strongly recommended that patients receive multidisciplinary care, with precise assessment and discussion of the indication and an adequate dose of DNA-damaging agents such as chemotherapy and ionizing radiation.  \nKeywords Bloom syndrome · Triple negative breast cancer · Myelodysblastic syndrome with excess blasts 2 · Adjuvant chemoradiotherapy  \nIntroduction  \nBloom syndrome (BS) is a rare autosomal recessive disorder caused by a loss-of-function mutation in the BLM gene, which encodes an RecQ helicase involved in DNA repair and maintenance of chromosomal stability. Defective BLM  \n􀀂 Ali Fuat Gürbüz, M.D.  \n[dr.alifuatg@gmail.com](dr.alifuatg@gmail.com)  \nAssoc Prof Melek Karakurt Eryılmaz [drangelkarakurt@hotmail.com](drangelkarakurt@hotmail.com)[ ](drangelkarakurt@hotmail.com)O˘guzhan Yıldız, M.D.  \n[dr.oguzhan@outlook.com](dr.oguzhan@outlook.com)  \nFahriye Kılınç, M.D.  \n[drfahriyek@gmail.com](drfahriyek@gmail.com)  \nprotein results in replication errors with high rates of chromosomal rearrangements and breakage, leading to premature aging, early onset of age-related diseases, and a variety of early-life malignancies [1–4] . In patients with BS, significant sensitivity to both DNA-damaging chemotherapy (CT) and ionizing radiation complicates the management  \nAssoc Prof Murat Araz  \n[zaratarum@yahoo.com](zaratarum@yahoo.com)  \nProf Mehmet Artaç  \n[mehmetartac@yahoo.com](mehmetartac@yahoo.com)  \n1 Department of Medical Oncology, Faculty of Medicine, Necmettin Erbakan University, 14280 Konya, Turkey  \n2 Department of Pathology, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey  \nK  \nof these neoplasms by exacerbating comorbidities and predisposing to toxicities and poor outcomes [5] . The clinical picture often includes short stature, facial rash, and recurrent infections due to severe immunodeficiency. Genomic instability is also manifested by an increased susceptibility to a variety of cancers","cbCaiaTO7eIq04As","https://ap.wps.com/l/cbCaiaTO7eIq04As","pdf",2859954,"English","# Abstract\n# Introduction\n# Case report\n## Diagnosis and initial cancer treatment\n## Progression to MDS-EB2 and azacitidine therapy\n# Conclusion","[{\"question\":\"What is Bloom syndrome and why does it matter for cancer treatment?\",\"answer\":\"Bloom syndrome is a rare autosomal recessive disorder caused by loss-of-function mutation in the BLM gene. Patients show significant sensitivity to DNA-damaging chemotherapy and ionizing radiation, increasing toxicity risk and complicating cancer management.\"},{\"question\":\"What treatment did the patient receive for triple-negative breast cancer?\",\"answer\":\"The patient received four cycles of doxorubicin plus cyclophosphamide, followed by weekly paclitaxel for 12 weeks, and 5000 cGy curative radiotherapy.\"},{\"question\":\"How did myelodysplastic syndrome with excess blasts 2 develop in the case?\",\"answer\":\"Eight months after therapy, pancytopenia occurred and bone marrow biopsy led to a diagnosis of MDS-EB2. Two courses of azacitidine were administered, but later febrile neutropenia and sepsis developed, and the patient died.\"}]","Rare case of myelodysplastic syndrome with excess blasts 2 developing after adjuvant chemoradiotherapy for triple-negative breast cancer in a patient with Bloom syndrome - Case study | PDF",1790017198,13]