Case Reports in Hematology最新文献

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.

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.

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.

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. Trial Registration: ClinicalTrials.gov identifier: NCT02543879, NCT03360006.

Background: 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. Case Presentation: 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. Conclusion: 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.

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. Trial Registration: ClinicalTrials.gov identifier: NCT00782067.

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.

We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 BCR::ABL1 transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints (BCR::ABL1 on der(22) and ABL1::BCR on der(9)) at the genomic level. The use of a cryptic splice site in intron 1 of ABL1 led to the generation of an in-frame BCR::ABL1 fusion transcript. The diagnostic difficulties caused by this atypical variant and its implications for diagnostic routine are discussed.

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.

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.