Case Reports in Hematology最新文献

{"title":"Secondary Diffuse Large B-Cell Lymphoma After Sequential Tyrosine Kinase Inhibitor Therapy in Chronic Myeloid Leukemia: A Case Report.","authors":"Zaineb Mlayah, Kmar Mrad, Inès Ben Rekaya, Inaam Bizid, Nader Slama, Mohamed Adnène Laatiri, Sarra Boukhris","doi":"10.1155/crh/4762512","DOIUrl":"10.1155/crh/4762512","url":null,"abstract":"<p><strong>Background: </strong>Tyrosine kinase inhibitors (TKIs) targeting the BCR::ABL1 fusion protein have revolutionized the treatment of chronic myeloid leukemia (CML), transforming it into a chronic and manageable disease with markedly improved survival. However, prolonged TKI exposure has been associated with rare hematological complications, including secondary lymphoid malignancies.</p><p><strong>Case presentation: </strong>We describe a 39-year-old woman with CML who developed diffuse large B-cell lymphoma (DLBCL) after long-term nilotinib therapy. She had previously received imatinib and dasatinib, both discontinued due to intolerance and cytogenetic failure. Five years after initiating nilotinib, she presented with gastric pain and right cervical lymphadenopathy. Histopathological examination confirmed a nongerminal center B-cell (non-GCB) subtype DLBCL (CD20+, MUM1+, BCL6+, Ki-67: 80%). The patient received eight cycles of R-CHOP, achieving complete remission. At the most recent follow-up, she maintained a major molecular response for CML and complete remission for lymphoma.</p><p><strong>Conclusion: </strong>This case highlights a rare occurrence of DLBCL following long-term TKI therapy for CML. Although a direct causal relationship remains unproven, cumulative drug exposure, immune dysregulation, and genomic instability may contribute to lymphomagenesis. Continuous long-term surveillance is essential for early detection and management of secondary malignancies in patients receiving chronic TKI therapy.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"4762512"},"PeriodicalIF":0.7,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13459641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148714039","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 a Novel Perforin Gene Variant in Severe Familial Hemophagocytic Lymphohistiocytosis Type 2 (FHL2).","authors":"Hiroshi Yamauchi, Moeko Hino, Kazuyuki Meguro, Taiji Nakano, Takahiro Aoki, Yoshiharu Yamashita, Tomoko Okunushi, Takeshi Yamamoto, Hironori Sato, Takahiro Yasumi, Yuiko Hirata, Hirofumi Shibata, Hiroshi Nakajima, Hiromichi Hamada","doi":"10.1155/crh/1949986","DOIUrl":"10.1155/crh/1949986","url":null,"abstract":"<p><strong>Introduction: </strong>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by excessive cytokine release from activated T cells and macrophages. Primary HLH, or familial HLH (FHL), results from genetic mutations affecting cytotoxic lymphocyte function.</p><p><strong>Case report: </strong>We present a case of FHL Type 2 (FHL2) caused by compound heterozygous variants in the PRF1 gene, including one novel missense variant of p.Ala21Val (A21V). A 5-month-old boy presented with persistent fever, pancytopenia, coagulopathy, hepatosplenomegaly, and elevated ferritin, meeting the HLH-2004 diagnostic criteria. Bone marrow revealed hemophagocytosis, and NK cell activity was markedly reduced. Genetic analysis identified compound heterozygous PRF1 variants: A21V and p.Pro16Ser (P16S). Flow cytometric analysis demonstrated markedly reduced PRF1 protein expression in the patient's NK cells. The patient was treated with etoposide, dexamethasone palmitate, and cyclosporine, followed by cord blood transplantation. The patient has been in remission for over a year.</p><p><strong>Discussion: </strong>The PRF1 A21V variant has not been described in the public database or the literature and is therefore considered a novel pathogenic variant for FHL2 with functional validation. Although the PRF1 P16S variant has been previously reported in the heterozygous state in an adult patient with primary HLH, our findings provide functional and clinical evidence supporting a contributory role of the P16S variant in autosomal recessive early-onset FHL2 when present in trans with the novel A21V variant.</p><p><strong>Conclusion: </strong>We identified a previously unreported PRF1 variant, A21V, and provided the first functional evidence of impaired perforin expression associated with A21V/P16S, highlighting the importance of functional validation of rare PRF1 variants in FHL2.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1949986"},"PeriodicalIF":0.7,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12969942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147436474","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":"Spontaneous Metabolic Regression in High-Burden Follicular Lymphoma: A Case Report.","authors":"Yotam Bronstein, Roy Vitkon, Lucille Hayman, Chava Perry","doi":"10.1155/crh/7545774","DOIUrl":"10.1155/crh/7545774","url":null,"abstract":"<p><p>Follicular lymphoma (FL) is an indolent but incurable B-cell malignancy, typically requiring therapy in patients with high tumor burden. Although spontaneous regression has been described, its frequency and durability are uncertain and require longitudinal follow-up. We report a 64-year-old man with high-burden FL fulfilling GELF criteria who deferred treatment and subsequently demonstrated a marked spontaneous metabolic response on a follow-up [¹⁸F]FDG PET/CT over a 6-month follow-up period. The metabolic response encompassed nodal, splenic, and serosal involvement, accompanied by resolution of symptoms and improvement in laboratory parameters. This case highlights the biological heterogeneity of FL and emphasizes the importance of individualized management and ongoing surveillance.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7545774"},"PeriodicalIF":0.7,"publicationDate":"2026-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12966620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147379082","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":"Dysplastic Megakaryocytes in a Gallbladder Neck Lymph Node in a Patient With Essential Thrombocythemia: A Case Report.","authors":"Mahi Balcı","doi":"10.1155/crh/5591025","DOIUrl":"10.1155/crh/5591025","url":null,"abstract":"<p><p>A woman in her 60s with a known history of JAK2-positive essential thrombocythemia presented with a one-week history of jaundice. Laboratory testing revealed elevated bilirubin and alkaline phosphatase levels. Abdominal ultrasonography identified a 1-cm gallstone, and laparoscopic cholecystectomy was performed. Histopathological evaluation revealed chronic cholecystitis along with a 5-mm lymph node in the gallbladder neck harboring atypical megakaryocytes with multinucleation and nuclear lobulation. Immunohistochemistry confirmed megakaryocytic origin with strong positivity for CD61 and supportive positivity for Factor VIII, while epithelial and lymphoid markers were negative, ruling out metastatic carcinoma or lymphoma. This case underscores the rare involvement of lymph nodes by dysplastic megakaryocytes in essential thrombocythemia and highlights the importance of considering hematologic malignancies in the differential diagnosis of lymphadenopathy.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"5591025"},"PeriodicalIF":0.7,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12963451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147379079","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 Rare Case of Severe Cold Autoimmune Hemolytic Anemia in a Hemochromatosis Carrier.","authors":"Justin H Franco, Priya K Jindal, Sarah Jaggernauth, Feehaan Sultan, Anu Garg","doi":"10.1155/crh/7070088","DOIUrl":"10.1155/crh/7070088","url":null,"abstract":"<p><p>Cold autoimmune hemolytic anemia (cAIHA) is a rare form of anemia characterized by antibody-mediated red blood cell destruction at low temperatures (i.e., below 98.6°F or 37°C). Patients with severe cAIHA exhibit hemoglobin levels under 8 g/dL. Affected patients present with hepatosplenomegaly, hypotension, tachycardia, and an increased risk of death with a 5-year survival rate of 63.5%. Treatment with immunosuppressants and lifestyle modifications can improve cAIHA symptoms. However, the presence of a concurrent disease process can worsen clinical outcomes. In our report, we discuss the clinical management of acute decompensated cirrhosis secondary to heterozygous hemochromatosis complicated by cAIHA. Hemochromatosis is characterized by increased iron deposition that results in organ dysfunction. On admission, the patient presented with anemia, weight loss, and ascites. Although heterozygous hemochromatosis is typically asymptomatic, the presence of cAIHA appears to have contributed to the patient's liver dysfunction. Requiring different treatment regimens, the case underscores the difficulty of managing multiple rare hematological conditions.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7070088"},"PeriodicalIF":0.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12936977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327598","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":"Diagnosis and Management of Plummer-Vinson Syndrome in a Female Ghanaian.","authors":"Dela Fiawoo, Theophilus Tandoh, Edeghonghon Olayemi","doi":"10.1155/crh/7353717","DOIUrl":"10.1155/crh/7353717","url":null,"abstract":"<p><p>Plummer-Vinson syndrome (PVS), also known as Paterson-Brown Kelly syndrome, is a clinical condition that is characterized by the triad of iron deficiency anemia, dysphagia and oesophageal web. This condition is rare and is diagnosed more in middle aged to older white women. However, in some studies, younger individuals have also been found to have this condition. We present a 26-year-old woman with a 5-year history of progressive difficulty in swallowing and a long history (approximately 18 years) of iron deficiency anaemia and has been on intermittent iron supplementation. A barium swallow showed narrowing in the upper third of the oesophagus, and she underwent serial dilatation of the oesophageal web stenosis and iron therapy with resultant improvement in the dysphagia. This patient was found to be pregnant 3 months postdiagnosis of PVS. The prevalence of PVS has decreased due to early diagnosis of iron deficiency and repletion of iron stores.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7353717"},"PeriodicalIF":0.7,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12935298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147311196","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":"Splenic Embolization to Manage Thrombocytopenia in Cancer Patients: Case Reports and Review of the Literature.","authors":"Zahra Ridha, Kiat Tsong Tan, Michael Connolly, Radhika Yelamanchili, Rachel VanderMeer, Mohammad Refaei","doi":"10.1155/crh/3779663","DOIUrl":"10.1155/crh/3779663","url":null,"abstract":"<p><p>Thrombocytopenia is a common complication of cancer and its management. Platelet count guides patients' cancer treatment, as a safe threshold is required before initiating a chemotherapy regimen. Preventing thrombocytopenia in cancer patients is essential to avoid dose reduction or delay of chemotherapy. Partial splenic embolization (PSE) is a procedure that can increase platelet count in cancer patients, allowing them to initiate/resume chemotherapy and receive other treatments such as surgery and tumor ablation. Herein, we report two cases of cancer patients that underwent a PSE to improve thrombocytopenia in order to receive chemotherapy. One patient had a successful procedure, although they had a recurrence of thrombocytopenia 18 months later requiring repeat PSE. The other patient suffered serious complications as a result of unintentional total embolization of the spleen and the tail of the pancreas, resulting in necrotizing pancreatitis that rendered her unable to start chemotherapy. We analyzed both cases to provide insight on the safety and effectiveness of the procedure for cancer patients.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"3779663"},"PeriodicalIF":0.7,"publicationDate":"2026-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12905002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203382","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":"Hemophagocytic Lymphohistiocytosis Secondary to Disseminated Bacillus Calmette-Guérin (BCG): A Steroid-Sparing Strategy in a Patient Awaiting Cardiac Surgery-A Case Report.","authors":"Kaitlin Quinlan, Tyler MacDonald, Terence C Wuerz, Ryan Zarychanski","doi":"10.1155/crh/5761690","DOIUrl":"10.1155/crh/5761690","url":null,"abstract":"<p><p>We report a case of hemophagocytic lymphohistiocytosis (HLH) secondary to disseminated Bacillus Calmette-Guérin (BCG) infection in an 80-year-old man treated with intravesical BCG for non-muscle-invasive bladder cancer. The patient presented with several weeks of constitutional symptoms including night sweats, fatigue, weight loss, confusion, and pancytopenia. Laboratory studies revealed profound inflammation, coagulopathy, and hepatocellular injury. HLH was suspected clinically and supported by a high H-score. Extensive infectious and autoimmune workup was negative. <i>Mycobacterium bovis</i> was subsequently isolated from urine and bone marrow cultures, which confirmed a diagnosis of disseminated BCG infection. The patient was treated with a combination of antimycobacterial therapy (isoniazid, rifampin, and ethambutol), intravenous immunoglobulin (IVIG), corticosteroids, and anakinra. Anakinra, an interleukin-1 receptor antagonist, was used both to minimize high-dose steroids, given the protracted inflammatory response anticipated with <i>Mycobacterium</i> infection, and to prevent steroid-related complications related to cardiac surgery. This therapeutic strategy was associated with improvement of cytopenias, normalization of inflammatory markers, and gradual clinical recovery. This case highlights the rare but serious complication of HLH triggered by disseminated BCG and suggests that targeted immunomodulation with anakinra may be a useful adjunct in selected, complex presentations of infection-associated HLH.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"5761690"},"PeriodicalIF":0.7,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146158784","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":"Beta-Thalassemia Major Complicated by Streptococcal Toxic Shock Syndrome: A Rare Case of Survival and Successful Management.","authors":"Fajr Saeedi, Masaheer A Aljehani","doi":"10.1155/crh/9991481","DOIUrl":"10.1155/crh/9991481","url":null,"abstract":"<p><p>Beta-thalassemia is an inherited blood disorder associated with defective hemoglobin production and impaired immunity, increasing susceptibility to severe infections. <i>Streptococcus pyogenes</i> poses a significant risk due to its potential to cause streptococcal toxic shock syndrome (STSS), a life-threatening condition characterized by fever, shock, and multiorgan failure. We report a rare survival case of a nine-year-old child with beta-thalassemia major who developed STSS secondary to <i>Streptococcus pharyngitis</i>. The patient presented with fever, neck swelling, hematemesis, and hypovolemic shock, requiring urgent resuscitation and intensive care unit admission. Laboratory tests revealed pancytopenia and renal dysfunction, and neck CT showed diffuse lymphadenopathy and fluid collection. A nasal discharge culture confirmed <i>Streptococcus pyogene</i> as the cause. The patient received empirical antibiotics, intravenous immunoglobulin (two doses), and supportive care, leading to clinical recovery. The neck swelling resolved, and ultrasound confirmed no residual fluid collection. This case highlights the critical need for early recognition and aggressive management in beta-thalassemia patients with severe infections.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"9991481"},"PeriodicalIF":0.7,"publicationDate":"2026-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12883549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146158732","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":"Breast Implant-Associated Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma.","authors":"Thibault Maerten, Elsa Seijnhaeve, Wivine Bernard, Marc André, Gilles Crochet","doi":"10.1155/crh/7488322","DOIUrl":"10.1155/crh/7488322","url":null,"abstract":"<p><p>Breast implant-associated diffuse large B-cell lymphoma (BIA-DLBCL) is an extremely rare entity, often misdiagnosed as breast implant-associated anaplastic large cell lymphoma (BIA-ALCL). Unlike BIA-ALCL, which is a T-cell neoplasm, BIA-DLBCL shows B-cell immunophenotype and is frequently associated with Epstein-Barr virus (EBV). Few cases have been reported and its optimal management remains unclear. We report the case of a 45-year-old woman with a history of breast augmentation surgery using textured silicone implants. She presented with left breast pain and deformity. Histopathological examination of the periprosthetic capsule revealed large atypical lymphoid cells, expressing CD20, CD19, PAX5, CD79a, and CD30, with EBV RNA positivity and absence of T-cell markers. There was no capsular rupture. PET-CT scanning showed hypermetabolic activity around the implant and ipsilateral axillary lymphadenopathy, without systemic involvement. A diagnosis of BIA-DLBCL was retained. The patient underwent total capsulectomy without adjuvant therapy. At 30-month follow-up, she remains in complete clinical and radiological remission. BIA-DLBCL is an increasingly reported entity which in most cases can be classified within the spectrum of fibrin-associated large B-cell lymphoma (FA-LBCL). While surgical excision alone may be sufficient for localized disease, the rarity of this lymphoma highlights the urgent need for more comprehensive data, particularly long-term survival outcomes, to refine classification and therapeutic recommendations.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7488322"},"PeriodicalIF":0.7,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12876036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146144125","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}