Leukemia Research Reports最新文献

To evaluate the specific prognostic value of CAs, we conducted an analysis of 923 symptomatic multiple myeloma patients. Among this cohort, 480 patients had complete data set of high-risk CAs by interphase fluorescent in situ hybridization at diagnosis. In the high-risk group analysis, the median OS of patients without CAs (n = 338, 72 %) was 6.5 years, patients with del(17p) (n = 42, 9 %) was 4.4 years, patients with t(4;14) or t(14;16) (n = 72, 15 %) was 4.4 years, and patients with double-positive CAs(del(17p) and t(4;14) or t(14;16)) (n = 18, 4 %) was 2.1 years (p = 0.032). Patients with double-positive CAs had a significantly worse prognosis.

Mantle cell lymphoma (MCL) with testicular involvement is a rare presentation and only a few cases have been described in the literature. We present a case of MCL with testicular involvement and the first analysis of all previously reported cases assessing trends in immunohistochemical features, prognostic indicators, and survival. Our data suggest that among all MCL, testicular MCL is more likely to present with aggressive features: blastoid/pleomorphic morphology, high Ki-67 proliferative index, and CNS involvement. Testicular MCL is also associated with shorter overall survival.

Background

Atypical chronic myeloid leukemia (aCML) is a rare myelodysplastic/myeloproliferative neoplasm. There is no proven standard of care treatment and the only curative option available is hematopoietic stem cell transplant. In addition to traditional chemotherapy, targeted therapy has shown to be a promising. Avapritinib is a selective type 1 tyrosine kinase inhibitor with high potency for KIT D816V and was recently approved for treatment of systemic mastocytosis. Here we present a case of aCML with novel D816V mutation treated with avapritinib for 17 months leading to clonal extinction of the driver mutation.

Case presentation

An 80 year old man initially presented for evaluation of aCML. A bone marrow biopsy was completed, and next generation sequencing was notable for a novel KIT D816V mutation. Patient was started on avapritinib leading to significant improvement in leukocytosis and extinction of the D816V mutation over 17 months of treatment. The extinction was followed with serial next generation sequencing.

Conclusion

We present the first case of aCML with KIT D816V driver mutation. We also demonstrate two novel management strategies. First, we show that treatment with avapritinib does not need to be limited to cases of systemic mastocytosis and could be useful in other hematologic malignancies with this driver mutation. Furthermore, with the use of serial next generation sequencing we were able to identify new emerging clones. While none of the clones noted in this study were targetable, they could be in other patients with aCML and help guide treatment.

CEBPA variants are frequently recurring in acute myeloid leukemia (AML). The prognostic significance of CEBPA mutations has recently undergone a major shift in the 5th edition of WHO classification of hematological neoplasms and ELN 2022 classification. Whereas prior iterations did not specify the type of CEBPA mutation, the updated schema specify that only mutations localized to the C-terminal basic zipper (bZIP) domain are considered prognostically favorable. This change is based primarily on three recently published large datasets evaluating the prognostic significance of mutation location in CEBPA mutant AML. Here, we review the evolution of the prognostic classification of CEBPA variants.

We report a case of myeloid/lymphoid neoplasm with ZMYM2::FGFR1 rearrangement (MLN^ZMYM2::FGFR1) exhibiting a complex disease evolution. This neoplasm initially presented as T-lymphoblastic lymphoma (T-LBL) in lymph node and myeloproliferative neoplasm (MPN) with eosinophilia in bone marrow, then transitioned to systemic mastocytosis (SM) likely accompanied by additional JAK3 and other mutations and finally transformed to acute myeloid leukemia (AML) accompanied by additional/secondary genetic abnormality (gain of chromosome 21, der(13)t(8;13), and RUNX1 mutation). To our knowledge, this is the first case of MLN^ZMYM2::FGFR1 with a complex trilineage/phenotypic [T-cell (T-LBL), mast cell (SM), and myeloid (MPN and AML)] lineage evolution.

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains an effective option for the treatment of intermediate and high-risk Acute myeloid leukemia (AML). Post-transplant lymphoproliferative disorder (PTLD) is related to the intensity of post-transplant immunosuppression. Although Epstein-Barr virus (EBV) seropositivity and reactivation can be a major risk factor for PTLD. A few PTLDs could be EBV negative. There are a very limited number of PTLD cases following HSCT in patients with AML. We present a differential diagnosis of cytopenias after allo-HSCT. This is the first report of an AML patient developing bone marrow EBV-negative PTLD relatively late in their post-transplant course.

The presence of neutrophilic leukocytosis may underlie a wide variety of diseases. Some rare causes of neutrophilia might be chronic neutrophilic leukemia (CNL) and myelodysplastic/myeloproliferative neoplasm with neutrophilia (MDS with neutrophilia). Here we report a case of a 78-year-old woman who came to our ER due to severe leukocytosis and anemia on a routine check-up. The patient was asymptomatic and the last exams available showed a mild leukopenia and thrombocytopenia. The abdominal echography showed mild splenomegaly The patient underwent bone marrow (BM) examinations. One week later, the patient presented mental deterioration. The patient underwent a cranial CT and RMN that showed multiple lesions of 11 mm in the brain parenchyma, cerebellum and encephalic trunk. Another week later, the clinical presentations worsened: she was in a comatous state and feverish 40 °C unresponsive to steroid therapy. Autopsy showed a leukemic and hemorrhage infiltration in multiple organs and in the BM a cellularity of 100% represented by myeloid elements with a slowdown maturation with blasts 5%. According to WHO 2016 this case can be reported as an aCML, an MDS/MPN overlap syndrome that is difficult to differentiate from a CNL.

Membranous nephropathy (MN) is an uncommon renal presentation in patients with chronic lymphocytic leukemia (CLL), and as such, there is no standard therapy for these patients. A few cases of MN in CLL have been described with varying success in MN treatment involving alkylating agents and fludarabine. Here we report the first case of MN in a patient with CLL treated with ibrutinib with complete renal response. This presentation underlines the importance of recognizing rare glomerular diseases that may occur with CLL and offers a new therapeutic avenue to the treatment of CLL-associated MN.

Chronic lymphocytic leukemia (CLL) is one of the most common B-cell leukemias, occurring because of abnormal proliferation of non-functional B-lymphocytes. Progressive disease is commonly complicated by anemia, thrombocytopenia, infections as well as secondary malignancies. Bone marrow fibrosis is infrequently co-occurred along with CLL. Although multiple explanations have been proposed for this association, the etiology remains unclear in most cases. Bone marrow fibrosis occurring as a complication of CLL itself, however, is a rare entity. We present an uncommon case of a patient initially diagnosed with primary myelofibrosis but later revealed to have aggressive CLL leading to bone marrow fibrosis upon re-evaluation. Treatment for CLL resolved the bone marrow fibrosis completely, confirming our suspicion of fibrosis being secondary to CLL. This sheds light on the importance of understanding the etiology of bone marrow fibrosis in patients with CLL owing to its therapeutic implications. The utility of bone marrow biopsy in not only helping understand the etiology of the fibrosis but also providing prognostic information merits reconsideration of performing it in all cases of CLL.