Hematology Reports

11 pages, 526 KiB

Open AccessArticle

Prognostic Factors for 28-Day Mortality in Pediatric Patients with Acute Leukemia and Candidemia Following Intensive Chemotherapy: A Retrospective Study

by Tran Thi Kieu My, Hoang Thi Hong, Mai Lan, Tran Quynh Mai, Dang Hoang Hai and Ta Thi Dieu Ngan

Hematol. Rep. 2025, 17(4), 38; https://doi.org/10.3390/hematolrep17040038 - 30 Jul 2025

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Abstract

Background/Objective: Candidemia is a serious complication following intensive chemotherapy and is associated with high mortality in pediatric patients. This study aimed to identify the factors associated with 28-day mortality in pediatric patients with candidemia. Methods: We retrospectively analyzed 63 pediatric patients diagnosed with [...] Read more.

Background/Objective: Candidemia is a serious complication following intensive chemotherapy and is associated with high mortality in pediatric patients. This study aimed to identify the factors associated with 28-day mortality in pediatric patients with candidemia. Methods: We retrospectively analyzed 63 pediatric patients diagnosed with acute leukemia and candidemia following intensive chemotherapy. Clinical characteristics, laboratory findings, and epidemiological data were collected. Antifungal susceptibility data were available for 60 patients. Kaplan–Meier survival analysis was used to estimate the 28-day mortality rate, and Cox regression was performed to identify prognostic factors. Results: The 28-day mortality rate among the 63 patients (57.1% male, median age 9.74 years) was 36.5%. Candida tropicalis was the predominant species (96.8%). Antifungal susceptibility rates were 100% for amphotericin B and caspofungin and 22.2% for fluconazole. The factors independently associated with reduced 28-day mortality were an absolute lymphocyte count (ALC) ≥ 0.2 G/L at the time of candidemia diagnosis (5.3% vs. 50% mortality; hazard ratio [HR] = 0.08; 95% confidence interval [CI], 0.01–0.61), the use of antifungal prophylaxis (AFP) (26.3% vs. 52%; HR 0.31; 95% CI, 0.13–0.74), and granulocyte transfusion (GTX) combined with granulocyte colony-stimulating factor (G-CSF) (20% vs. 47.4%; HR = 0.31; 95% CI, 0.11–0.85). Conclusions: Our findings suggest that an ALC ≥ 0.2 G/L, AFP, and the administration of a GTX combined with G-CSF may be considered favorable prognostic factors. Full article

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6 pages, 454 KiB

Open AccessCase Report

ANKRD26 Gene Mutation and Thrombocytopenia—Is the Risk of Malignancy Dependent on the Mutation Variant?

by Eirik B. Tjønnfjord, Kristian Tveten, Signe Spetalen and Geir E. Tjønnfjord

Hematol. Rep. 2025, 17(4), 37; https://doi.org/10.3390/hematolrep17040037 - 24 Jul 2025

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Abstract

Background and Clinical Significance: Inherited thrombocytopenia (IT) is a heterogeneous group of disorders caused by mutations in over 45 genes. Among these, ANKRD26-related thrombocytopenia (ANKRD26-RT) accounts for a notable subset and is associated with variable bleeding tendencies and an increased risk of myeloid [...] Read more.

Background and Clinical Significance: Inherited thrombocytopenia (IT) is a heterogeneous group of disorders caused by mutations in over 45 genes. Among these, ANKRD26-related thrombocytopenia (ANKRD26-RT) accounts for a notable subset and is associated with variable bleeding tendencies and an increased risk of myeloid malignancies. However, the extent of this oncogenic risk appears to vary between specific gene variants. Understanding the genotype–phenotype relationship is essential for patient counseling and management. This report presents a multigenerational family carrying the rare c.−118C > G variant in the 5′ untranslated region of ANKRD26, contributing to the discussion on variant-specific cancer predisposition. Case Presentation: Two sisters aged 57 and 60 presented with lifelong bleeding diathesis and moderate thrombocytopenia. Their symptoms included easy bruising, menorrhagia, and excessive postoperative bleeding. Genetic testing confirmed heterozygosity for the ANKRD26 c.−118C > G variant. Bone marrow analysis revealed abnormal megakaryopoiesis without evidence of dysplasia or somatic mutations. One sister underwent major surgery without complications when managed with prophylactic hemostatic therapy. Their family history included multiple female relatives with similar symptoms, although formal testing was limited. Notably, none of the affected individuals developed hematologic malignancy, and only one developed esophageal cancer, with no current evidence linking this variant to solid tumors. Conclusions: This case underscores the importance of distinguishing between ANKRD26 variants when assessing malignancy risk. While ANKRD26-RT is associated with myeloid neoplasms, the c.−118C > G variant may confer a lower oncogenic potential. Variant-specific risk stratification and genetic counseling are crucial for optimizing surveillance and avoiding unnecessary interventions in low-risk individuals. Full article

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8 pages, 1550 KiB

Open AccessCase Report

Diagnostic Challenges in Acute Leukemia: From Dental Pain to Catastrophic Intracerebral Hemorrhage

by Anatoli Pinchuk, Stefan P. Roch, Christian Mawrin, Daniel Behme, Klaus-Peter Stein, Belal Neyazi, Martin Mikusko, Ibrahim Erol Sandalcioglu and Ali Rashidi

Hematol. Rep. 2025, 17(4), 36; https://doi.org/10.3390/hematolrep17040036 - 23 Jul 2025

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Abstract

Background and Clinical significance: Acute leukemias are neoplasms of the hematopoietic system that are caused by the extensive proliferation of immature precursor cells (‘blasts’), mainly in the bone marrow. They frequently manifest with vague and non-specific clinical symptoms, making early diagnosis particularly [...] Read more.

Background and Clinical significance: Acute leukemias are neoplasms of the hematopoietic system that are caused by the extensive proliferation of immature precursor cells (‘blasts’), mainly in the bone marrow. They frequently manifest with vague and non-specific clinical symptoms, making early diagnosis particularly challenging. Case Presentation: This case report describes the clinical course of a female patient who initially sought dental care due to a persistent toothache—an atypical and misleading symptom. Subsequent investigations revealed a diagnosis of acute leukemia. Although the malignancy was identified promptly and the appropriate therapeutic measures were initiated, the disease progressed with alarming rapidity. The patient ultimately developed a massive intracerebral hemorrhage—a devastating complication likely related to leukemia-associated coagulopathy. Despite emergent neurosurgical intervention, the hemorrhage proved fatal. Conclusions: This case highlights the critical need for heightened clinical suspicion in the presence of unusual symptoms and illustrates the complex interplay between hematologic malignancies and coagulopathic complications. Full article

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8 pages, 726 KiB

Open AccessCase Report

Anemia Due to Unexpected Zinc-Induced Copper Deficiency

by Nicholas Chun, Shehla Aman, Dan Xu, Jun Wang, Craig Zuppan and Albert Kheradpour

Hematol. Rep. 2025, 17(4), 35; https://doi.org/10.3390/hematolrep17040035 - 17 Jul 2025

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Abstract

Anemia due to acquired copper deficiency is most commonly the result of malabsorption or dietary deficiency. However, it can occasionally be due to excess zinc intake, which impairs the absorption of copper. Copper deficiency may result in vacuolated erythroid and myeloid precursors in [...] Read more.

Anemia due to acquired copper deficiency is most commonly the result of malabsorption or dietary deficiency. However, it can occasionally be due to excess zinc intake, which impairs the absorption of copper. Copper deficiency may result in vacuolated erythroid and myeloid precursors in the bone marrow, and sometimes features resembling myelodysplasia that, although not specific, may be an important clue to the diagnosis. Background and Clinical Significance: We report bone marrow findings in a child with anemia due to zinc-induced copper deficiency. Case Presentation: An 18-year-old female with cerebral palsy admitted for respiratory failure was found to have anemia and leukopenia with absolute neutropenia. A bone marrow smear showed occasional ring sideroblasts. Additional testing revealed reduced serum copper and elevated serum zinc. Further inquiry uncovered a several-year history of high-dose zinc supplementation. Conclusions: It is important to consider copper deficiency as a potential etiology in patients with anemia and neutropenia, as it may otherwise be mistaken for vitamin B12 deficiency or myelodysplasia. The presence of small vacuoles in hematopoietic precursors is an important clue to the diagnosis and may help avoid ineffective interventions. Full article

(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)

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9 pages, 550 KiB

Open AccessCase Report

Psychotic Disorder Secondary to Cerebral Venous Thrombosis Caused by Primary Thrombophilia in a Pediatric Patient with Protein S Deficiency and an MTHFR p.Ala222Val Variant: A Case Report

by Darío Martínez-Pascual, Alejandra Dennise Solis-Mendoza, Jacqueline Calderon-García, Bettina Sommer, Eduardo Calixto, María E. Martinez-Enriquez, Arnoldo Aquino-Gálvez, Hector Solis-Chagoyan, Luis M. Montaño, Bianca S. Romero-Martinez, Ruth Jaimez and Edgar Flores-Soto

Hematol. Rep. 2025, 17(4), 34; https://doi.org/10.3390/hematolrep17040034 - 3 Jul 2025

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Abstract

Background and Clinical Significance: Herein, we describe the clinical case of a 17-year-old patient with psychotic disorder secondary to cerebral venous thrombosis due to primary thrombophilia, which was related to protein S deficiency and a heterozygous MTHFR gene mutation with the p.Ala222Val variant. [...] Read more.

Background and Clinical Significance: Herein, we describe the clinical case of a 17-year-old patient with psychotic disorder secondary to cerebral venous thrombosis due to primary thrombophilia, which was related to protein S deficiency and a heterozygous MTHFR gene mutation with the p.Ala222Val variant. Case presentation: A 17-year-old female, with no history of previous illnesses, was admitted to the emergency service department due to a psychotic break. Psychiatric evaluation detected disorganized thought, euphoria, ideas that were fleeting and loosely associated, psychomotor excitement, and deviant judgment. On the fifth day, an inflammatory process in the parotid gland was detected, pointing out a probable viral meningoencephalitis, prompting antiviral and antimicrobial treatment. One week after antiviral and steroidal anti-inflammatory treatments, the symptoms’ improvement was minimal, which led to further neurological workup. MRI venography revealed a filling defect in the transverse sinus, consistent with cerebral venous thrombosis. Consequently, anticoagulation treatment with enoxaparin was initiated. The patient’s behavior improved, revealing that the encephalopathic symptoms were secondary to thrombosis of the venous sinus. Hematological studies indicated the cause of the venous sinus thrombosis was a primary thrombophilia caused by a heterozygous MTHFR mutation variant p.Ala222Val and a 35% decrease in plasmatic protein S. Conclusions: This case highlights the possible relationship between psychiatric and thrombotic disorders, suggesting that both the MTHFR mutation and protein S deficiency could lead to psychotic disorders. Early detection of thrombotic risk factors in early-onset psychiatric disorders is essential for the comprehensive management of patients. Full article

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7 pages, 606 KiB

Open AccessCase Report

Secondary Hemophagocytic Lymphocytosis in Inflammatory Bowel Disease

by Jacob Boccucci, Ramalakshmi Thulluri, Chandini Kannan, Matthew Gold and Vamsi Kota

Hematol. Rep. 2025, 17(4), 33; https://doi.org/10.3390/hematolrep17040033 - 30 Jun 2025

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Abstract

Background and Clinical Significance: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition that can go underdiagnosed due to overlapping features with severe infections. While the use of thiopurine in inflammatory bowel disease (IBD) has been associated with HLH, the majority of these [...] Read more.

Background and Clinical Significance: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition that can go underdiagnosed due to overlapping features with severe infections. While the use of thiopurine in inflammatory bowel disease (IBD) has been associated with HLH, the majority of these patients will have a concurrent Epstein–Barr virus (EBV) infection. Case Presentation: This report presents a case of HLH in a patient previously treated with aza-thioprine for IBD without concurrent viral infection. Full article

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13 pages, 256 KiB

Open AccessReview

Solitary Plasmacytomas: Current Status in 2025

by Uğur Hatipoğlu, Mert Seyhan, Turgay Ulas, Mehmet Sinan Dal and Fevzi Altuntaş

Hematol. Rep. 2025, 17(4), 32; https://doi.org/10.3390/hematolrep17040032 - 30 Jun 2025

Viewed by 679

Abstract

Solitary plasmacytoma refers to a neoplastic, clonal proliferation of plasma cells forming a single mass. They are divided based on their origin site; solitary bone plasmacytomas originate from the bones, and extramedullary plasmacytomas represent extraosseous tumors. These are rare tumors but carry a [...] Read more.

Solitary plasmacytoma refers to a neoplastic, clonal proliferation of plasma cells forming a single mass. They are divided based on their origin site; solitary bone plasmacytomas originate from the bones, and extramedullary plasmacytomas represent extraosseous tumors. These are rare tumors but carry a risk of transforming to multiple myeloma; thus, optimal management and meticulous follow-up are needed. Their rarity poses a major challenge in conducting large-scale clinical trials, leaving important gaps in evidence regarding best practices. Newer imaging techniques have improved the quality of staging, management decisions, and outcomes. Radiation still has a significant role in treatment algorithms, and adjuvant chemotherapy is gaining more importance; trials are underway in this area. Follow-up should contain biochemical tests as the proposed response definition criteria. We aimed to review the key studies and guidelines in this paper. Full article

(This article belongs to the Special Issue Innovations in Hematologic Oncology: SOHO Italy Perspectives)

17 pages, 288 KiB

Open AccessReview

Uncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders

by Amr Hanbali, Abdullah Alamer and Saud Alhayli

Hematol. Rep. 2025, 17(4), 31; https://doi.org/10.3390/hematolrep17040031 - 27 Jun 2025

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Abstract

Rare plasma cell disorders—including IgD, IgE, and IgM multiple myeloma, non-secretory myeloma (NSMM), plasma cell leukemia (PCL), and heavy chain disease (HCD)—are biologically heterogeneous and often present with atypical features and aggressive behavior. This review synthesizes current evidence on their epidemiology, pathophysiology, diagnosis, [...] Read more.

Rare plasma cell disorders—including IgD, IgE, and IgM multiple myeloma, non-secretory myeloma (NSMM), plasma cell leukemia (PCL), and heavy chain disease (HCD)—are biologically heterogeneous and often present with atypical features and aggressive behavior. This review synthesizes current evidence on their epidemiology, pathophysiology, diagnosis, and treatment. Advances in proteasome inhibitors, immunomodulatory agents, and autologous transplantation have improved outcomes in select subtypes. However, challenges persist in distinguishing IgM myeloma from Waldenström macroglobulinemia, monitoring non-secretory disease, and treating highly aggressive forms such as IgE myeloma and PCL. Standardized diagnostic criteria and prospective trials are essential to guide future management. Full article

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Hematol. Rep., Volume 17, Issue 4 (August 2025) – 8 articles

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