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Leukemias
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Chronic eosinophilic leukemia, not otherwise specified (CEL), is distinguished from other forms of eosinophilia, in particular idiopathic hypereosinophilic syndrome, by the demonstration of clonality, increased myeloblasts, and non-specific cytogenetic abnormalities, such as trisomy 8 and i(7q). It is a rare and aggressive disorder associated with a median survival of about 20 months and a high rate of transformation to AML. It must also be carefully distinguished from other myeloid entities associated with eosinophilia by suitable cytogenetic and genetic analysis, preferably next-generation sequencing. This is critical, since the presence of specific genetic abnormalities, such as FIP1L1-PDGFRA or other tyrosine kinase fusions such as those involving PDGFRA, PDGFRB, FGFR1, or JAK2, is often amenable to treatment with specific targeted agents, such as imatinib. Clearly by definition, CEL is BCR-ABL1-negative without rearrangement of PDGFRA, PDGFRB, or FGFR1.118 Recent research has also identified a mutation, JAK2ex13InDel, associated with erythrocytosis and eosinophilia, possibly representing a variant of PV and CEL.102 In general, patients with CEL, not otherwise specified, often have an aggressive clinical course, and some patients benefit from an intensive chemotherapy and allo-SCT.
Myeloproliferative Neoplasms (MPN)
Published in Dongyou Liu, Tumors and Cancers, 2017
MPN (formerly myeloproliferative disorders or MPD) are a group of diseases characterized by the overproduction of one or more blood cell types (red cells, white cells, or platelets) by the bone marrow. MPN may be further separated into nine subgroups: (i) chronic myeloid leukemia (CML; BCR-ABL1+ gene), (ii) chronic neutrophilic leukemia (CNL), (iii) polycythemia vera (PV), (iv) primary myelofibrosis (PMF), (v) PMF—prefibrotic/early stage, (vi) PMF—overt fibrotic stage, (vii) essential thrombocythemia (ET), (viii) chronic eosinophilic leukemia not otherwise specified (CEL-NOS), and (ix) MPN—unclassifiable (see Table 13.1) [2].
Steroid alternatives for managing eosinophilic lung diseases
Published in Expert Opinion on Orphan Drugs, 2021
Quentin Delcros, Matthieu Groh, Mouhamad Nasser, Jean-Emmanuel Kahn, Vincent Cottin
HES is defined as blood (eosinophil >1500/mm3) and/or tissue hypereosinophilia associated with eosinophil-associated organ damage (precluding the absence of an alternative diagnosis for the organ dysfunction) [115]. Over time and thanks to growing knowledge acquired in the field of eosinophil biology, several entities have now been individualized within HES such as clonal (e.g. FIP1L1-PDGFRA-associated myeloid neoplasm with eosinophilia, formerly chronic eosinophilic leukemia) and reactive HES (that aggregates all conditions, e.g. parasitic infections, adverse drug reactions, inflammatory or neoplastic diseases that lead to the production of Th2-related cytokines and thereby to non-clonal hypereosinophilia). Of note, reactive HES also includes the lymphoid variant of HES (L-HES), a chronic clonal indolent T-cell lymphoproliferative disorder in which mature peripheral T cells secrete high amounts of IL-5, leading to the polyclonal expansion of eosinophils and subsequent potential eosinophil-related organ damage. Overall, in the largest cohort of HES (n = 188, including all HES subtypes), lungs (including mimickers of ICEP) were the second most frequently damaged organ, affecting 15% of patient at presentation and more than 40% during follow-up [36]. Specifically, in that study, 30% of the patients with FIP1L1-PDGFRA-positive HES and 15–20% of L-HES exhibited respiratory manifestations [116–119].
Eosinophilic granulomatosis with polyangiitis: the multifaceted spectrum of clinical manifestations at different stages of the disease
Published in Expert Review of Clinical Immunology, 2020
Alvise Berti, Sara Boukhlal, Matthieu Groh, Divi Cornec
Additionally, T-cell immunophenotyping (searching for CD3−CD4+, CD3+CD4+CD7 or CD3+CD4−CD8− TCRab abnormal cells) is warranted in ANCA-negative patients with lymph nodes and/or skin involvement (especially pruritus, eczema-like lesions, episodic angioedema, urticarial papules), whose clinical picture is suggestive of lymphocytic HES [48]. Next, FIP1L1-PDGFRA (F/P+)-related chronic eosinophilic leukemia (formerly the myeloid variant of HES) may also mimic EGPA in rare cases [49], and testing for F/P+ fusion gene should be performed in selected cases when clinical (e.g. male sex, splenomegaly), biological (e.g. high B12 vitamin and/or tryptase levels) features, and/or primary resistance to steroids are suggestive of such diagnosis [50].
Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features
Published in Hematology, 2022
Zhan Su, Xin Liu, Weiyu Hu, Jie Yang, Xiangcong Yin, Fang Hou, Yaqi Wang, Jinglian Zhang
The patient was admitted for the first time due to fatigue lasting for 2 months. All four limbs were scattered with papules and nodules, of which the largest diameter was approximately 3-4 cm, with a clear boundary, dark red color, hardness, and no tenderness. The liver was 3 cm below the costal margin, and the spleen was 5 cm below the costal margin. Routine blood examination showed a white blood cell (WBC) count of 133.63×109/L, hemoglobin level of 80 g/L, and platelet count of 44×109/L. A blood smear revealed 46% eosinophils and 20% basophils. Bone marrow smears showed active bone marrow hyperplasia, with myeloblasts accounting for 5%. Markedly increased numbers of eosinophils and eosinophil precursors were observed at all stages, accounting for 40.5% of bone marrow, and basophils accounted for 5.5% of bone marrow. Bone marrow biopsy showed extremely active bone marrow hyperplasia, with mainly myelocytes and cells at a more mature stage and a significantly increased eosinophil proportion (Figure 1A). The increase in reticular fibers was moderate. Chromosome analysis revealed 46,XY,t(5;12)(q33;p13)[7]/46,XY[13] (Figure 1B). Flow cytometry revealed a group of abnormal cells, accounting for 31.4% of nuclear cells, and these cells were positive for CD45, CD33 (77.6%), CD11b (98.6%), CD13 (97.7%), CD123 (91.4%), and CD11c (94.7%) but negative for MPO, cyCD79a, cyCD3, CD7, CD19, CD34, CD15, CD117, CD14, HLA-DR, CD4, CD22, and CD64. The detection results using a screening panel for 40 fusion genes in leukemia were negative, including PML::RARA and BCR::ABL. A diagnosis of chronic eosinophilic leukemia was confirmed. He received initial treatment with hydroxyurea and leukapheresis, and cytarabine (0.2 g days 1-3) was given for the first course of chemotherapy thereafter. The patient had repeated fever during myelosuppression, which improved after antibiotic treatment. The patient then underwent five courses of chemotherapy as follows: TA (theprubicin and cytarabine), IA (doxorubicin and cytarabine), TA, IA and TA. Blood cells were reduced after each course of chemotherapy, whereas leukocytosis reappeared when myelosuppression occurred (Supplemental Figure 1). Therefore, the 7th course of treatment was altered to the COPEA regimen (cyclophosphamide, vindesine, prednisone, etoposide, and cytarabine). During this period of myelosuppression, the patient developed perianal abscess and fever with a maximum body temperature of 40.5 °C, which was accompanied by loss of spirit, blurred consciousness, frequent urination, urination pain, and dysuria. Atrial fibrillation and ineffective platelet transfusion occurred consecutively. The body temperature returned to normal after antibiotic treatment, and amiodarone restored sinus rhythm. Nevertheless, the platelet count remained low. The patient was discharged automatically and died a short time later.