Case Reports in Hematology最新文献

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A Case of Pseudohyponatremia in the Setting of Pegaspargase-Induced Hypertriglyceridemia in an Adult T-Cell Lymphoblastic Leukemia Patient. 成人t淋巴细胞白血病患者在飞天冬氨酸诱导的高甘油三酯血症背景下发生假性低钠血症1例。
IF 0.7
Case Reports in Hematology Pub Date : 2024-12-29 eCollection Date: 2024-01-01 DOI: 10.1155/crh/7154679
Asim Ahmad, Matthew Joseph
{"title":"A Case of Pseudohyponatremia in the Setting of Pegaspargase-Induced Hypertriglyceridemia in an Adult T-Cell Lymphoblastic Leukemia Patient.","authors":"Asim Ahmad, Matthew Joseph","doi":"10.1155/crh/7154679","DOIUrl":"https://doi.org/10.1155/crh/7154679","url":null,"abstract":"<p><p>We present a rare case of pseudohyponatremia in a 20-year-old male patient with adult T-cell acute lymphoblastic leukemia (ATLL). The patient was admitted for a mediastinal mass with superior vena cava syndrome and was receiving pegaspargase therapy. The pseudohyponatremia was found to be secondary to hypertriglyceridemia associated with the pegaspargase treatment. In this case report, we discuss the important considerations in the management of adult ATLL patients receiving pegaspargase therapy, and the specific approaches taken to care for the patient described in this case.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"7154679"},"PeriodicalIF":0.7,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11700704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute Myeloid Leukemia (AML) With T-Cell Differentiation Arising From Chronic Myelomonocytic Leukemia (CMML). 由慢性粒单核细胞白血病(CMML)演变而来的 T 细胞分化型急性髓细胞白血病(AML)。
IF 0.7
Case Reports in Hematology Pub Date : 2024-12-14 eCollection Date: 2024-01-01 DOI: 10.1155/crh/5584297
Anthony Crymes, Mark G Evans, Deepa Jeyakumar, Jerry J Lou, Xiaohui Zhao, Sherif A Rezk
{"title":"Acute Myeloid Leukemia (AML) With T-Cell Differentiation Arising From Chronic Myelomonocytic Leukemia (CMML).","authors":"Anthony Crymes, Mark G Evans, Deepa Jeyakumar, Jerry J Lou, Xiaohui Zhao, Sherif A Rezk","doi":"10.1155/crh/5584297","DOIUrl":"10.1155/crh/5584297","url":null,"abstract":"<p><p>Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood monocytosis and bone marrow dysplasia. In approximately one-fourth of cases, CMML can demonstrate progression to acute myeloid leukemia (AML), referred to as AML ex CMML. We present a 58-year-old woman with a past medical history of idiopathic thrombocytopenic purpura (ITP) who demonstrated 24% bone marrow blasts on a repeat biopsy obtained two years after being diagnosed with CMML. By the flow cytometric analysis, the blasts expressed partial CD34, CD13, CD117, partial MPO, and partial CD123 with coexpression of the T-lymphoid markers CD2, CD5, CD7, partial CD4, cytoplasmic CD3, partial cytoplasmic TDT, and CD38, suggestive of AML with rare mixed myeloid/T-cell phenotype. Treatment with various agents including decitabine, cytarabine, daunorubicin, etoposide, and venetoclax, and two experimental bromodomain and extraterminal (BET) inhibitors did not produce sustained remissions, and the patient eventually succumbed to her disease. T-cell phenotype is an exceedingly rare feature of AML ex CMML, and whether this unique differentiation pathway contributed to the aggressive disease course remains unclear. <b>Trial Registration:</b> ClinicalTrials.gov identifier: NCT02543879, NCT03360006.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"5584297"},"PeriodicalIF":0.7,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11671604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unmasking Vitamin B12 Deficiency Misdiagnosed as Myelodysplastic Syndrome. 揭露被误诊为骨髓增生异常综合征的维生素B12缺乏症。
IF 0.7
Case Reports in Hematology Pub Date : 2024-12-02 eCollection Date: 2024-01-01 DOI: 10.1155/2024/3258227
Maria Jamil, Zeinab Nasser, Dawood Jamil, Jawad Z Sheqwara
{"title":"Unmasking Vitamin B12 Deficiency Misdiagnosed as Myelodysplastic Syndrome.","authors":"Maria Jamil, Zeinab Nasser, Dawood Jamil, Jawad Z Sheqwara","doi":"10.1155/2024/3258227","DOIUrl":"10.1155/2024/3258227","url":null,"abstract":"<p><p><b>Background:</b> Pancytopenia is characterized by a decrease in all three types of blood cells. Instead of being a standalone disease, it acts as a common outcome resulting from various factors, including infections, autoimmune disorders, genetic issues, nutritional deficiencies, and malignancies. Pinpointing the root cause of pancytopenia poses a challenge but is essential for devising an effective treatment plan and predicting the likely prognosis. Vitamin B12 deficiency is a common cause of megaloblastic anemia, pancytopenia, and various neuropsychiatric symptoms. However, diagnosing vitamin B12 deficiency lacks a definitive gold standard. <b>Case Presentation:</b> We present two cases where patients initially exhibited pancytopenia with seemingly normal vitamin B12 levels. Based on a bone marrow biopsy, they were initially diagnosed with myelodysplastic syndrome (MDS). Subsequent investigations revealed elevated serum methylmalonic acid (MMA) levels, leading to a revised diagnosis of vitamin B12 deficiency. Both patients showed positive responses to adequate vitamin B12 supplementation. <b>Conclusion:</b> Our case series highlights the importance of ruling out alternative causes of dysplasia in MDS when solely morphological abnormalities are observed on a bone marrow biopsy. It also underscores the crucial aspect of assessing MMA and homocysteine levels in individuals with normal vitamin B12 levels when there is a high clinical suspicion of B12 deficiency.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"3258227"},"PeriodicalIF":0.7,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11628167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
KIT V560D-Mutated Systemic Mastocytosis Associated With High-Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis-Associated Hematologic Neoplasm. KIT v560d突变全身性肥大细胞增多症与高危骨髓增生异常综合征相关:全身性肥大细胞增多症相关血液学肿瘤的一个独特病例
IF 0.7
Case Reports in Hematology Pub Date : 2024-11-30 eCollection Date: 2024-01-01 DOI: 10.1155/crh/4360304
Georgio Medawar, Krishna Sakalabaktula, Jenna Magri, Elizabeth Rinker, Praneeth Baratam
{"title":"KIT V560D-Mutated Systemic Mastocytosis Associated With High-Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis-Associated Hematologic Neoplasm.","authors":"Georgio Medawar, Krishna Sakalabaktula, Jenna Magri, Elizabeth Rinker, Praneeth Baratam","doi":"10.1155/crh/4360304","DOIUrl":"10.1155/crh/4360304","url":null,"abstract":"<p><p>Systemic mastocytosis (SM) is a rare hematologic disorder characterized by clonal proliferation of mast cells in the bone marrow and/or other organs. SM-associated hematologic neoplasm (SM-AHN) is one of the advanced SM variants that usually confer a poor prognosis. We present a case of a 75-year-old female patient with SM-AHN, specifically myelodysplastic syndrome (MDS), that harbored a unique KIT mutation KIT V560D, not previously described in the literature in this setting. We describe the clinical course and the outcome with the use of avapritinib, midostaurin, and decitabine-cedazuridine. <b>Trial Registration:</b> ClinicalTrials.gov identifier: NCT00782067.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"4360304"},"PeriodicalIF":0.7,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Widespread Cutaneous Indeterminate Dendritic Cell Tumor (IDCT) With ETV3::NOAC2 Rearrangement Successfully Treated With PUVA Therapy: A Case Report. PUVA成功治疗伴有ETV3: NOAC2重排的广泛皮肤不确定树突状细胞瘤1例。
IF 0.7
Case Reports in Hematology Pub Date : 2024-11-29 eCollection Date: 2024-01-01 DOI: 10.1155/crh/8013335
Akshay Deshpande, Zbigniew Rudzki, Jaideep Bhat, Matthew Pugh, Susan Rose, Shankara Paneesha
{"title":"Widespread Cutaneous Indeterminate Dendritic Cell Tumor (IDCT) With ETV3::NOAC2 Rearrangement Successfully Treated With PUVA Therapy: A Case Report.","authors":"Akshay Deshpande, Zbigniew Rudzki, Jaideep Bhat, Matthew Pugh, Susan Rose, Shankara Paneesha","doi":"10.1155/crh/8013335","DOIUrl":"10.1155/crh/8013335","url":null,"abstract":"<p><p>The unique histiocytic entity of indeterminate dendritic cell tumor (IDCT) is known to cause diagnostic conundrum and treatment dilemmas with no published consensus on either. We report a rare case of cutaneous IDCT with ETV3::NOAC2 rearrangement providing further evidence to its association with this condition. With its ease of administration and minimal side effects, PUVA therapy can be successfully used to treat cutaneous forms of IDCT.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"8013335"},"PeriodicalIF":0.7,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia Patient. 慢性髓系白血病患者非典型e18a2 BCR::ABL1转录引起的诊断歧义
IF 0.7
Case Reports in Hematology Pub Date : 2024-11-25 eCollection Date: 2024-01-01 DOI: 10.1155/2024/9439134
Thomas Pretzsch, Steve Progscha, Thomas Burmeister
{"title":"Diagnostic Ambiguity Caused by an Atypical e18a2 <i>BCR::ABL1</i> Transcript in a Chronic Myeloid Leukemia Patient.","authors":"Thomas Pretzsch, Steve Progscha, Thomas Burmeister","doi":"10.1155/2024/9439134","DOIUrl":"10.1155/2024/9439134","url":null,"abstract":"<p><p>We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 <i>BCR</i>::<i>ABL1</i> transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints (<i>BCR</i>::<i>ABL1</i> on der(22) and <i>ABL1</i>::<i>BCR</i> on der(9)) at the genomic level. The use of a cryptic splice site in intron 1 of <i>ABL1</i> led to the generation of an in-frame <i>BCR</i>::<i>ABL1</i> fusion transcript. The diagnostic difficulties caused by this atypical variant and its implications for diagnostic routine are discussed.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"9439134"},"PeriodicalIF":0.7,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11611398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bone Marrow Failure due to Aplastic Anemia, Associated With Serous Fat Atrophy, and Treated With Allogeneic, Haploidentical Stem Cell Transplantation: A Case Report. 再生障碍性贫血导致骨髓衰竭,伴有浆液性脂肪萎缩,采用异体同种干细胞移植治疗:病例报告。
IF 0.7
Case Reports in Hematology Pub Date : 2024-11-16 eCollection Date: 2024-01-01 DOI: 10.1155/crh/6526961
Matthew J Pisarcik, Cameron J Oswalt, Eric D Carlsen, Mitchell E Horwitz
{"title":"Bone Marrow Failure due to Aplastic Anemia, Associated With Serous Fat Atrophy, and Treated With Allogeneic, Haploidentical Stem Cell Transplantation: A Case Report.","authors":"Matthew J Pisarcik, Cameron J Oswalt, Eric D Carlsen, Mitchell E Horwitz","doi":"10.1155/crh/6526961","DOIUrl":"10.1155/crh/6526961","url":null,"abstract":"<p><p>We describe the case of a 27-year-old male, previously healthy though with a social history notable for recreational cocaine use, who developed bone marrow failure due to aplastic anemia (AA) with associated serous fat atrophy (SFA). After the SFA was corrected with nutritional supplementation, the patient underwent successful allogeneic, haploidentical stem cell transplantation with a regimen designed to treat AA. To our knowledge, this is the first case of hematopoietic stem cell transplantation (HSCT) performed following correction of SFA. Herein we propose our novel hypothesis that SFA, once resolved, is not a contraindication to stem cell transplantation, which we believe adds valuable insight toward an improved understanding of nutrition's role in HSCT. Additionally, the AA is thought to be toxin-induced and specifically levamisole-mediated after exposure to levamisole-adulterated cocaine. We highlight potential connections between levamisole, AA, and SFA and call for further efforts to understand these relationships-especially as the use of levamisole as a cocaine adulterant continues to rise across the globe.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"6526961"},"PeriodicalIF":0.7,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11588405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
High-Risk Chronic Lymphocytic Leukemia Complicating the Course of Imatinib-Treated Chronic Myeloid Leukemia: Successful Disease Management With Dual Tyrosine Kinase Inhibition. 高风险慢性淋巴细胞白血病并发伊马替尼治疗的慢性髓性白血病:使用双重酪氨酸激酶抑制剂成功控制病情。
IF 0.7
Case Reports in Hematology Pub Date : 2024-11-15 eCollection Date: 2024-01-01 DOI: 10.1155/2024/1813512
Daniel James, Simone Green, Stefano Molica, David Allsup
{"title":"High-Risk Chronic Lymphocytic Leukemia Complicating the Course of Imatinib-Treated Chronic Myeloid Leukemia: Successful Disease Management With Dual Tyrosine Kinase Inhibition.","authors":"Daniel James, Simone Green, Stefano Molica, David Allsup","doi":"10.1155/2024/1813512","DOIUrl":"10.1155/2024/1813512","url":null,"abstract":"<p><p>The coexistence of chronic myeloid leukemia (CML) and chronic lymphocytic leukemia (CLL) in the same patient is exceedingly rare, with only a few cases reported in the literature. Here, we report a patient with CML who, having achieved a major molecular response with imatinib, subsequently developed CLL, which necessitated the concomitant administration of ibrutinib.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"1813512"},"PeriodicalIF":0.7,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11584251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation. 同种异体造血干细胞移植治疗带有种系 DDX41 基因突变的急性髓性白血病
IF 0.7
Case Reports in Hematology Pub Date : 2024-11-01 eCollection Date: 2024-01-01 DOI: 10.1155/2024/4611649
Shuro Yoshida, Yuichiro Semba, Shuichiro Takashima, Masanori Kadowaki, Ken Takase, Takahiro Maeda, Koichi Akashi, Hiromi Iwasaki
{"title":"Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline <i>DDX41</i> Mutation.","authors":"Shuro Yoshida, Yuichiro Semba, Shuichiro Takashima, Masanori Kadowaki, Ken Takase, Takahiro Maeda, Koichi Akashi, Hiromi Iwasaki","doi":"10.1155/2024/4611649","DOIUrl":"https://doi.org/10.1155/2024/4611649","url":null,"abstract":"<p><p>According to the 2016 World Health Organization classification, a germline DEAD-box helicase 41 gene (<i>DDX41</i>) mutation with myeloid neoplasms has been newly classified. The clinical course of acute myeloid leukemia (AML) with a germline <i>DDX41</i> mutation has not yet been clarified. In the early phase, this condition is slowly progressive, the rate of remission induction is high, and the prognosis is good. On the other hand, in the late phase, the gradual relapse rate increases and the ultimate prognosis can be poor. Currently, clear guidance on the indication for allogeneic hematopoietic stem cell transplantation (allogeneic HSCT) for AML with a germline <i>DDX41</i> mutation has not been yet provided. However, we consider that allogeneic HSCT should be performed in patients who are eligible for allogeneic HSCT for germline <i>DDX41</i> mutations in AML to overcome poor relapse-free survival, referring to previous relevant papers. We report a 49-year-old patient who had pancytopenia and was finally diagnosed with a germline <i>DDX41</i> mutation and AML. We decided to perform allogeneic HSCT. On day 68, he was complicated by acute graft versus host disease, gut stage 1, grade II, and was started on prednisolone 0.2 mg/kg. He recovered quickly and has been currently alive without symptoms of graft versus host disease for almost 2 years. Regarding donor search for allogeneic HSCT for AML with a germline <i>DDX41</i> mutation, it is essential to ensure that the donor must be negative for this mutation when the donor is a family donor. If the related donor has a positive mutation, which can cause the development of donor-derived leukemia, allogeneic HSCT should performed from an unrelated donor.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"4611649"},"PeriodicalIF":0.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11548944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS: Distinguishing TAM-DS and ML-DS: Report of 4 Cases. 四例与唐氏综合征相关的骨髓增生性疾病:唐氏综合征与骨髓增生性疾病的鉴别:鉴别唐氏综合征与骨髓增生性疾病:四例病例的报告。
IF 0.7
Case Reports in Hematology Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI: 10.1155/2024/9962512
Kévin Boumeghar, Sylvie Daliphard, Nimrod Buchbinder, Catherine Boutet, Dominique Penther, Pascaline Etancelin, Julien Bourgain, Gérard Buchonnet, Elsa Bera, Victor Bobée
{"title":"Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS: Distinguishing TAM-DS and ML-DS: Report of 4 Cases.","authors":"Kévin Boumeghar, Sylvie Daliphard, Nimrod Buchbinder, Catherine Boutet, Dominique Penther, Pascaline Etancelin, Julien Bourgain, Gérard Buchonnet, Elsa Bera, Victor Bobée","doi":"10.1155/2024/9962512","DOIUrl":"10.1155/2024/9962512","url":null,"abstract":"<p><p>Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. Transient abnormal myelopoiesis (TAM) and myeloid-leukemia associated with Down syndrome (ML-DS) are two conditions that need to be accurately diagnosed to provide appropriate management. Both TAM and ML-DS are characterized by proliferation of megakaryoblasts carrying a mutation in the GATA1 gene. Here, we report four cases with educational significance, highlighting typical diagnostic features that facilitate the differentiation between these two conditions, thereby assisting clinicians and medical laboratory professionals in effectively managing and monitoring these patients.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"9962512"},"PeriodicalIF":0.7,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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