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BACKGROUND Familial hemophagocytic lymphohistiocytosis (FHL) is a primary immunodefici-ency disease caused by gene defects. The onset of FHL in adolescents and adults may lead clinicians to ignore or even misdiagnose the disease. To the best of our knowledge, this is the first report to detail the clinical features of type 2 FHL (FHL2) with compound heterozygous perforin ( PRF1 ) defects involving the c.163C>T mutation, in addition to correlation analysis and a literature review. CASE SUMMARY We report a case of a 27-year-old male patient with FHL2, who was admitted with a persistent fever and pancytopenia. Through next-generation sequencing technology of hemophagocytic lymphohistiocytosis (HLH)-related genes, we found compound heterozygous mutations of PRF1 : c.65delC (p.Pro22Argfs*29) (frameshift mutation, paternal) and c.163C>T (p.Arg55Cys) (missense mutation, maternal). Although he did not receive hematopoietic stem cell transplantation, the patient achieved complete remission after receiving HLH-2004 treatment protocol. To date, the patient has stopped taking drugs for 15 mo, is in a stable condition, and is under follow-up observation. CONCLUSION The delayed onset of FHL2 may be related to the PRF1 mutation type, pathogenic variation pattern, triggering factors, and the temperature sensitivity of some PRF1 mutations. For individual, the detailed reason for the delay in the onset of FHL warrants further investigation.
Background Study of the molecular biological characteristics of chronic neutrophilic leukemia complicated with plasma cell disorder (CNL‐PCD) and lymphocytic proliferative disease (CNL‐LPD). Methods The clinical data of a patient with chronic neutrophilic leukemia complicated with monoclonal gammopathy of undetermined significance (CNL‐MGUS) in our hospital were reviewed, and the Chinese and/or English literature about CNL‐PCD and CNL‐LPD in PubMed and the Chinese database CNKI in the past 10 years was searched to analyze the molecular biological characteristics of this disease. Results A 73‐year‐old male had persistent leukocytosis for 18 months. The white blood cell count was 46.77 × 109/L and primarily composed of mature neutrophils; hemoglobin: 77 g/L; platelet count: 189 × 109/L. Serum immunofixation electrophoresis showed IgG‐λ monoclonal M protein. A CT scan showed splenomegaly. Next‐generation sequencing (NGS) showed that CSF3R T618I, ASXL1 and RUNX1 mutations were positive. It was diagnosed as CNL‐MGUS. We summarized 10 cases of CNL‐PCD and 1 case of CNL‐LPD who underwent genetic mutation detection reported in the literature. The CSF3R mutational frequency (7/11, 63.6%) was lower than that of isolated CNL. The ASXL1 mutations were all positive (3/3), which may represent a poor prognostic factor. The SETBP1 mutation may promote the progression of CNL‐PCD. We also found JAK2, RUNX1, NRAS, etc. in CNL‐PCD. Conclusions Chronic neutrophilic leukemia may be more inclined to coexist with plasma cell disorder. The CSF3R mutation in CNL‐PCD is still the most common mutated gene compared with isolated CNL. Mutations in SETBP1 and ASXL1 may be poor prognostic factors for CNL‐PCD.
P lanetary rovers have played significant roles in exploring potential landing sites on Mars and the moon, and they will continue to work as one of the most effective tools for future planetary missions. Sample acquisition for on-site analysis and possible return to earth is one of the most challenging and promising missions for planetary exploration. The Kapvik microRover is a smart, reconfigurable all-terrain multimission microRover prototype that was developed to address the challenges of planetary exploration and sample acquisition. The Kapvik microRover consists of a mobile platform, an onboard robotic mast, and a number of scientific sensors. This article presents the development of the Kapvik robotic mast, which combines a robotic arm and microRover mast, delivering both of their functions. Namely, the innovative robotic mast can perform sample acquisition and transfer for storage as well as assist the microRover in navigation and inspection. To satisfy the stowage requirements and provide triangular support for the navigation cameras, a novel locking mechanism and associated control techniques are designed to enable self-locking and unlocking of the robotic mast. A prototype has been developed for the Canadian Space Agency, and extensive experiments have been conducted to validate the proposed design. Robotics for Planetary ExplorationPlanetary exploration has attracted extensive attention due to its promising and rewarding missions, such as examining geology, mineralogy, and searching for water and signs of life in the outer planets. The science-rich areas on the moon are expected to be the South Pole, central peaks, and crater rims of major craters [1]. The South Pole is promising for the possibility of containing ice. The central peaks and the rims of major craters, such as Copernicus, are attractive because they may provide insight to the origin of the moon and the formation of the planets [1]. While promising, these science-rich areas are extremely difficult to explore for human beings due to the lack of oxygen and extreme temperatures.The deployment of planetary rovers provides a promising solution to the limitations of human beings in planetary exploration. From Sojourner to Opportunity, Spirit, and Phoenix, from Apollo to Surveyor and Ranger, planetary rovers have played significant roles in exploring potential landing sites on Mars and the moon [2]. In the future, planetary rovers will
CD20-negative diffuse large B-cell lymphoma (DLBCL) is a rare type of lymphoproliferative disorder characterized by a high degree of aggressiveness, a tendency for extranodal invasion and chemotherapeutic resistance. CD20-negative DLBCL originating from the nervous system is rarer. In primary central nervous system lymphoma (PCNSL), >90% of cases are histologically classified as DLBCL. The present study reports the case of a 65-year-old female with CD20-negative PCNSL, whose primary clinical symptom was a persistent headache. Serum tests for human immunodeficiency virus, Epstein-Barr virus-DNA, human herpesvirus 8, hepatitis B and hepatitis C were negative. Cranial magnetic resonance imaging suggested multiple intracranial occupancies. The neoplastic cells were found to be positive for CD19, CD79α, Bcl-2 (~92%) and c-Myc (~50%), while showing negative results for CD20, CD138, programmed cell death protein 1 (PD-1) and programmed cell death receptor 1 ligand 1 (PD-L1). The Ki-67 proliferation index was >80%. In the tumor microenvironment, <10% of the tumor-associated macrophages expressed PD-L1. The number of PD-1-positive tumor-infiltrating lymphocytes was 30-40 cells according to high-power field microscopy. The patient's disease progressed during methotrexate-based treatment, leading to a change in the treatment regimen to the Bruton tyrosine kinase inhibitor, zanubrutinib, combined with the anti-PD-1 monoclonal antibody tislelizumab. After two courses of the combined treatment, the patient achieved complete remission (CR) and continued to receive consolidation treatment. In the 20 months of follow-up since CR was achieved, the patient's general condition was good and the disease was in continuous remission. The present case report and literature review show that a combination of drugs targeting different mechanisms may be used to treat PCNSL to prolong patient survival time. The mechanism of the enhanced efficacy of a combination of the two drugs may be related to the enhancement of antitumor T-cell immune responses and reversal of T-cell immune metabolic dysfunctions by the inhibition of glycolysis.
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