S Einarsdottir, G Orrsjö, L von Bahr, A Staffas, L Fogelstrand
{"title":"Acute Myeloid Leukemia With <i>NPM1</i> Mutation Presenting With Rapidly Progressing Hypereosinophilia.","authors":"S Einarsdottir, G Orrsjö, L von Bahr, A Staffas, L Fogelstrand","doi":"10.1155/crh/5125740","DOIUrl":"10.1155/crh/5125740","url":null,"abstract":"<p><p>Hypereosinophilia presents a significant clinical challenge. We describe a case of severe, rapidly progressing hypereosinophilia, with the white blood cell count increasing from 40,000/μL to over 130,000/μL within days, and 70% eosinophils on differential count. The patient initially presented with diffuse symptoms but developed eosinophilic myocarditis during hospitalization. Targeted next-generation sequencing identified a mutation in <i>NPM1</i> and according to the WHO 5<sup>th</sup> edition criteria, the patient was diagnosed with acute myeloid leukemia (AML) with <i>NPM1</i> mutation. Whole genome and transcriptome sequencing revealed a concurrent fusion <i>ETV6</i>::<i>ACSL6</i>. This fusion has been previously described in myeloid diseases with eosinophilia. Despite initial deep response to AML treatment, reaching MRD-negativity for <i>NPM1</i>, the patient relapsed shortly after stem cell transplantation and died.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"5125740"},"PeriodicalIF":0.7,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144498351","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}
Saeed Arabi, Victoria Vardell, Timothy Hanley, Scott Florell, Ahmad Halwani, Ming Lim
{"title":"Primary Cutaneous Gamma-Delta T-Cell Lymphoma Presenting With Hemophagocytic Lymphohistiocytosis in a Young Polynesian Male.","authors":"Saeed Arabi, Victoria Vardell, Timothy Hanley, Scott Florell, Ahmad Halwani, Ming Lim","doi":"10.1155/crh/8582804","DOIUrl":"10.1155/crh/8582804","url":null,"abstract":"<p><p>Primary cutaneous gamma-delta T-cell lymphoma (PCGD-TCL) is a very rare subtype of cutaneous T-cell lymphoma. We report the case of a young Polynesian male who presented with fever and an abdominal wall rash and highlight the workup leading to the diagnosis of PCGD-TCL. As PCGD-TCL is rare and mimics other medical conditions, its diagnosis requires a high index of suspicion and can be challenging. Hemophagocytic lymphohistiocytosis (HLH) occurs with PCGD-TCL and can be a marker of more invasive disease. There are no well-defined treatment guidelines, but the most common treatment approach is anthracycline-based multiagent chemotherapy followed by allogeneic stem cell transplant. Targeted therapies are being increasingly used as well. Prognosis remains poor and 5-year survival is < 20%, particularly in more invasive disease. We highlight how this patient's demographic varies from the published literature and discuss some unique particulars of the diagnostic evaluation and treatment, especially in the presence of concurrent HLH.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"8582804"},"PeriodicalIF":0.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12124927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200413","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}
{"title":"Unusual Presentation of Childhood Leukemia With Vaginal Bleeding: A Case Report.","authors":"Şule Çalışkan Kamış","doi":"10.1155/crh/9949125","DOIUrl":"10.1155/crh/9949125","url":null,"abstract":"<p><p><b>Introduction:</b> This case report describes a 17-year-old female patient who initially presented with vaginal bleeding, weight loss, and nonspecific symptoms, which led to the diagnosis of B-cell acute lymphoblastic leukemia (B-ALL). This unusual presentation highlights the importance of considering hematological malignancies in patients with atypical symptoms. <b>Case Presentation:</b> The patient, married for 2 weeks, experienced vaginal bleeding following her first sexual intercourse, which did not resolve spontaneously. She also reported a 6 kg weight loss over the past 3-4 months, hair loss, and a history of dysmenorrhea and an ovarian cyst detected 2 years prior. Laboratory investigations revealed leukocytosis (WBC: 16,500/μL), anemia (Hb: 11.4 g/dL), and thrombocytopenia (Plt: 44,000/μL). Bone marrow aspiration (BMA) and flow cytometry confirmed the diagnosis of B-ALL, revealing a high percentage of atypical lymphoid cells. <b>Discussion:</b> This case underscores the rarity of diagnosing hematological malignancies in patients with vaginal bleeding. The patient's symptoms, including weight loss and thrombocytopenia, should have prompted a more comprehensive evaluation. Early recognition of B-ALL is crucial as prompt treatment significantly improves outcomes. The patient was started on prednisolone and alkalinized fluids, and her condition was closely monitored. <b>Conclusion:</b> Vaginal bleeding in young patients should not be dismissed as a minor issue, especially when accompanied by other systemic symptoms like weight loss and thrombocytopenia. Early diagnosis of B-ALL in such cases can lead to better management and prognosis.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"9949125"},"PeriodicalIF":0.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12116196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144162748","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}
{"title":"Severe Thrombocytopenia Secondary to Severe Iron Deficiency Anemia due to Menorrhagia.","authors":"Tyler E Russeth, Amanda Luong, Mandi Liu, Mihir Shah, Nicole Desai","doi":"10.1155/crh/3894943","DOIUrl":"10.1155/crh/3894943","url":null,"abstract":"<p><p>Thrombocytosis is commonly seen in patients with iron deficiency anemia and often normalizes following iron supplementation. Thrombocytopenia with iron deficiency anemia is a less common occurrence that can be seen in severe cases. This phenomenon is well documented in the pediatric population secondary to nutritional deficiency but is underreported in the adult population. Similarly, thrombocytopenia resolves following iron supplementation but the mechanism behind this and why select patients are affected is not well understood. This case report describes a young woman with menorrhagia who was found to have iron deficiency anemia and severe thrombocytopenia with resolution following intravenous iron.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"3894943"},"PeriodicalIF":0.7,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152349","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}
María José Miranda Pallarés, Tomás Álvaro Naranjo, Anna Vidal Rodriguez, Francisca Martínez Madueño
{"title":"Unusual Long-Term Survival in an Adult Patient With Langerhans Cell Histiocytosis and Central Nervous System Involvement: A Case Report.","authors":"María José Miranda Pallarés, Tomás Álvaro Naranjo, Anna Vidal Rodriguez, Francisca Martínez Madueño","doi":"10.1155/crh/6031427","DOIUrl":"10.1155/crh/6031427","url":null,"abstract":"<p><p>Langerhans cell histiocytosis (LCH) in adults is a rare condition. The disease presents with focal or multifocal involvement of a single organ/system or focal or disseminated multisystem disease. Involvement of the central nervous system (CNS) is also infrequent, with diabetes insipidus as a common manifestation of posterior pituitary lesions. Biopsy-proven diagnosis with the observation of characteristic Langerhans cells infiltrate with positive immunohistochemistry of S100 protein, CD1a, and CD68 cells. The patient presented generalized lymphadenopathy and was diagnosed with low-risk single-system LCH-based distinctive pathological findings in a lymph node biopsy. During the disease, CNS involvement was documented and the patient received different sequential therapeutic schemes, achieving complete remission that has been maintained for 8 years. The prolonged duration of remission with disappearance of lymphadenopathy and CNS lesions in an adult patient with LCH is an unusual clinical observation.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"6031427"},"PeriodicalIF":0.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144143931","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}
{"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}
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}
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}
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}
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}