Chronic myeloid leukemia (CML) typically progresses from a chronic phase to an accelerated phase, and eventually to a blast crisis, often involving the bone marrow and peripheral blood, if left untreated. Central nervous system (CNS) involvement is an uncommon manifestation of CML, particularly as an isolated CNS relapse. Here, we present a rare case of CML in lymphoid blast crisis with an isolated CNS relapse. A 46-year-old female with underlying CML in lymphoid blast crisis, previously treated with chemotherapy and tyrosine kinase inhibitors, presented with visual disturbances. Imaging and cerebrospinal fluid analysis confirmed leukemic infiltration of the CNS without evidence of a systemic disease. Isolated CNS involvement is an atypical complication of CML and presents significant therapeutic challenges owing to the blood-brain barrier, which limits the efficacy of systemic therapies. Subsequently, the patient was treated with intrathecal chemotherapy targeting the CNS. Despite aggressive treatment, CNS relapse remains a major concern due to the limited penetration of standard therapies into the CNS. This case underscores the importance of early recognition of CNS symptoms in CML patients, particularly in those with blast crisis, and highlights the need for tailored therapeutic strategies to manage this rare and challenging manifestation.
Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.
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ПЕРВИННІ МІНОРНІ ІМУНОДЕФІЦИТИ ЯК ПРИЧИНА РОЗВИТКУ ІМУНОЗАЛЕЖНОЇ ПАТОЛОГІЇ У ЛЮДЕЙ: ЕТІОЛОГІЯ, ЕПІДЕМІОЛОГІЯ, КЛАСИФІКАЦІЯ, ДІАГНОСТИКА І ЛІКУВАННЯ (СИСТЕМАТИЧНИЙ ОГЛЯД) Dmytro Maltsev Immunology and Allergology: Science and Practice.2024; (3-4): 37. CrossRef
Allogeneic hematopoietic stem cell transplantation (HSCT) is considered the optimal curative treatment for acute myeloid leukemia (AML), but some patients develop bone marrow relapse due to remnant leukemia, and few patients develop extramedullary relapse without bone marrow relapse. Isolated extramedullary relapse (IMER) is defined as extramedullary relapse without bone marrow relapse. IMER has been reported in various sites, including the skin, soft tissue, and central nervous system(CNS). Isolated CNS relapse is relatively rare and is associated with poor prognosis due to the absence of an optimal treatment for it. Reported herein is a case involving an adult AML woman who suffered from isolated extramedullary relapse in the CNS after allogeneic HSCT. She was treated with intrathecal chemotherapy and whole-brain and spine radiotherapy, followed by systemic chemotherapy. She is currently well, with no evidence of leukemia recurrence for over six years.
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Post-transplant leukemia relapse in organs: biology. and behavior in 585 reports Isabel Cunningham Critical Reviews in Oncology/Hematology.2021; 157: 103170. CrossRef
Actinomycosis is a rare subacute-to-chronic infection that causes sinus fistula, tract, or abscess due to the invasion surrounding the soft tissue. Actinomyces colonize the mouth, colon, and vagina. Mucosal disruption may lead to infection at virtually any site in the body. Cervicofacial infection accounts for 50-60% of all actinomycosis cases. The mandible and nasopharynx are the sites of predilection, but maxillary sinus infection is rare. Reported herein is a case involving a 57-year-old female with acute myeloid leukemia who had simultaneous actinomycosis with mucormycosis in the maxillary sinus.
Adult T-cell leukemia/lymphoma (ATLL) is a malignancy of mature T-cells caused by the human T-cell lymphotrophic virus type I (HTLV-I). HTLV-I is endemic in some areas in Japan, the Caribbean basin, and Africa but has low prevalence in South Korea. Patients with ATLL are susceptible to opportunistic infections such as cytomegalovirus (CMV) infection, but CMV infection in chronic ATLL is uncommon. Reported herein is a case involving a 44-year-old woman with chronic ATLL who presented the symptoms of fever and diarrhea. She was suspected to have acute-type ATLL but was later diagnosed with CMV colitis.
Se Hoon Sohn, Ha young Lee, Dong Geun Kim, Sung Woo Park, Myung Jin Kim, Myung Jin Oh, Hye Deok Woo, Hun Mo Ryoo, Sung Hwa Bae, Kyung Hee Lee, Min Kyoung Kim, Myung Soo Hyun
Yeungnam Univ J Med. 2010;27(2):113-121. Published online December 31, 2010
BACKGROUND AND PURPOSE: Patients with acute leukemia experience prolonged periods of neutropenia due to their disease or its treatment. For this reason, they often develop serious infectious complications. Although antibiotic therapy has improved in recent years, the fatality rate from infection remains high. For the control of infection, protected environment was developed. But because of economic issue, most of chemotherapy with acute myeloid leukemia have conducted in non-protected environment. So this study compared the rate of complete remission, days with neutropenia, rate of fever, rate of positive culture, rate of overt infection and use of antibacterial and antifungal agents with patients within non-protected environment and protected environment, retrospectively. Patients with acute myeloid leukemia during first remission induction chemotherapy were eligible for this study. METHODS: Retrospective analysis was conducted between patients in non-protected (25 patients) and protected environment (14 patients) with acute myeloid leukemia during remission induction chemotherapy. RESULTS: Rate of overt infection, rate of fever, rate of positive culture and rate of use of antibiotics were significantly high in patients within non-protected environment compared with patients within protected environment. There were no differences in rate of complete remission and days of neutropenia. CONCLUSIONS: This study suggests protected environment for patients with acute myeloid leukemia during remission induction chemotherapy could reduce rate of overt infection, and rate of use of antibiotics.
Central nervous system (CNS) prophylaxis is an essential component of the treatment in childhood acute lymphoblastic leukemia (ALL). Methotrexate (MTX) is an dispensable antimetabolite for treatment of ALL. High-dose (HD) MTX and intrathecal (IT) MTX have improved the prognosis and reduced the rate of CNS relapse. However, the drug also has a significant toxic effect on the CNS and can potentially lead to severe neurologic morbidity. The overall incidence of acute MTX induced neurotoxicity has been estimated to be 0.8∼10% of treated children, depending on the amounts of MTX and leucovorin in the treatment protocol. Acute neurotoxicity generally develops within 5∼14 days after IT MTX or HD MTX and may include headache, nausea, emesis, lethargy, altered mental status, blurred vision, aphasia, hemiparesis, and seizure. Diffusion weighted MRI shows restricted diffusion of water in brains of patients with ALL who experienced stroke-like event after IT MTX. We report the cinical and imaging findings of acute neurotoxicity in two patients after intrathecal administration of MTX for CNS prophylaxes of ALL.
According to the World Health Organization (WHO) classification system, cases with t(8;21)(q22;q22) should be diagnosed as acute myeloid leukemia (AML) even with a blast count of less than 20 percent in blood or bone marrow. It is an uncommon manifestation, moreover hypocellularity is rarely observed in this subtype of leukemia. Here, we report a case of t(8;21) in a patient with marked hypocellularity of less than 5 percent and a blast count of less than 20 percent. This patient responded relatively well to chemotherapy. An allogeneic bone marrow transplantation was performed with good engraftment . This case suggests that hypocellular AML with a t(8;21) has as good a prognosis as hypercellular AML with t(8;21).
Hairy cell leukemia (HCL) is an uncommon chronic B-cell lymphoproliferative disorder that is characterized by cytopenia, splenomegaly, and mononuclear cells displaying cytoplasmic projections. We experienced a case of hairy cell leukemia that developed in a 38-year-old man. He showed marked splenomegaly without palpable lymphoadenopathy. A complete blood cell count revealed leukopenia (3300/microliter with 63% of lymphocyte) and the peripheral blood smear showed abnormal lymphoid cells with cytoplasmic projections. The bone marrow smear revealed abnormal lymphocytes and severe myelofibrosis. Tartrate-resistant acid phosphatase reactivity was strongly positive in the hairy cells. The immunophenotyping results of lymphoid cells were CD5 (-), CD10 (-), CD19 (+), CD25 (+), CD103 (+), CD20 (+), lambda (+). The patient was treated with 2-Chlorodeoxyadenosine at a daily dose of 0.1mg/Kg by a continuous intravenous infusion for 7 days. The patient achieved complete remission.
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Long-term clinical outcome of a weekly 2-chlorodeoxyadenosine regimen in treatment-naïve patients with hairy cell leukemia Ye Eun Oh, Gi-June Min, Young-Woo Jeon, Tong Yoon Kim, Byung-Su Kim, Sung-Soo Park, Silvia Park, Jae-Ho Yoon, Sung-Eun Lee, Byung-Sik Cho, Ki-Seong Eom, Yoo-Jin Kim, Seok Lee, Hee-Je Kim, Chang-Ki Min, Seok-Goo Cho Annals of Hematology.2025;[Epub] CrossRef
Allogenic hematopoietic stem cell transplantation is one of the effective therapy for several hematologic malignancies. Transplantation preparative regimen is designed to eradicate the patient's underlying disease and immunosuppress the patient adequately to prevent rejection of donor's hematopoietic stem cells. so, Conventional myeloablative preparative regimens with high-dose chemotherapy or radiotherapy are related to high rate of morbidity and mortality. however, It has become clear that the high-dose therapy dose not eradicate the malignancy in some patients, and that the therapeutic benefit of allogenic transplantation is largely related to graft-versus-leukemia/graft-versus-tumor (GVL/GVT) effect. An new approach is to utilize less toxic, nonmyeloablative preparative regimens to achieve engraftment and allow GVL/GVT effects to developed. This strategy reduces the risk of treatment-related mortality and allows transplantation for elderly and those with comorbidities that preclude high-dose chemoradiotherapy.
We studied the expression of the cell surface antigen associated with myeloid and lymphoid leukemias on bone marrow or peripheral blood blast cells from 153 leukemic patients including 61 cases of acute myelogenous leukemias(AML), 46 of acute lymphocytic leukemias(ALL) and 12 of acute leukemias. They were analyzed by direct or indirect immunofluorescence method for reactivity with the monoclonal antibodies to B cells(CD10, CD19, SmIg), T cells(CD2, CD5, CD7, CD3, CD4, CD8), myeloid antigen(CD13, CD14, CD33, CD61) and a nonspecific antigen, HLA-DR. Lymphoid associated markers detected on AML is CD7 32.8%, CD10 14.8%, CD5 13.1%, CD2 6.6% and CD19 1.6%. TdT was positive in 4.9% of AMLs. Hybrid leukemias were 8 cases out 61 AML cases and were mainly composed of monocytic lineage, M4 and M5a. Myeloid markers detected in ALL were CD13 2.2% and CD33 2.2%. In this study, immunologically classified ALLs were composed of 65.2% of CALLA (+) B precursor type, 10.9% of CALLA (-) B precursor pattern, 8.7% of T cell type, 2.2% of B cell type, 4.5% of mixed lymphoid lineage(B&T), 2.2% of undifferentiated leukemia, and 6.5% of hybrid leukemia. Twelve cases of acute leukemias ware finally diagnosed to be 5 cases of hybrid leukemia, 3 cases of B lineage, 3 case of T lineage and 1 case of mixed lymphoid(B&T) leukemia. In summary, we think the best method for typing acute leukemias is by using a combination of FAB classification and immunophenotying.
Acute megakaryoblastic leukemia is a rare and rapidly fatal disease characterized by proliferation of megakaryocyte series and atypical megakaryocytes in the bone marrow. Acute megakaryoblastic leukemia is suspicious when 1) megakaryocyte in peripheral blood, mixture of large and small mononuclear megakaryoblast in the bone marrow 2) cytoplasmic budding in blast 3) myelofibrosis (dense medullary overgrowth of reticulin fibers) 4) PAS (+), ANAE (+), SBB (−), peroxidase (−) and which is confirmed by platelet peroxidase oxidation on electron microscope or monoclonal antibody. A case of acute megakaryoblastic leukemia was studied morphologically and monoclonal antibody.