This report describes a case of adult temporal bone Langerhans cell histiocytosis（LCH） that presented as posterior canal dehiscence syndrome（PCDS）. The patient initially presented with vertigo, tinnitus, and hearing loss. Computed tomography（CT） revealed erosive changes in the mastoid and posterior semicircular canal. After the operation, the patient's hearing and vestibular symptoms disappeared and postoperative recovery was favorable. Adult LCH is relatively rare, and this case serves as an example to discuss the clinical features and treatment options of this disease, followed by a literature review.
Humans ; Histiocytosis, Langerhans-Cell/complications* ; Semicircular Canal Dehiscence/etiology* ; Temporal Bone/pathology*

Objective:To analyze the clinical characteristics of malignant lymphoma of the head and neck in children, and to improve the understanding and diagnosis and treatment of this type of disease by otolaryngologists. Methods:Clinical data of 49 children with malignant lymphoma of the head and neck hospitalized in the Department of Otorhinolaryngology, Head and Neck Surgery of Kunming Children's Hospital from 2013-2021 were retrospectively analyzed and statistically analyzed according to gender, age distribution, duration of the disease, site of onset, type of pathology and survival status. Results:A total of 49 cases of malignant lymphoma of the head and neck in children were collected, of which, 39 were male and 10 female. The minimum age was 3 years, the maximum was 14 years and 4 months, the median age of onset was 7 years, and the largest percentage （51.02%） of children was in the school age（6-12 years）. The duration of the disease ranged from 5 days to 2 years, with a median of 1 month, and the site of the lesion was located in the neck in the majority of cases, 41（83.67%）. The pathologic types of hodgkin lymphoma（HL） were 25 cases（51.02%） and non-hodgkin lymphoma（NHL） were 24 cases（48.98%）, and among hodgkin lymphomas, mixed-cell classical hodgkin lymphoma was the most common, with 9 cases（18.37%）; among non-hodgkin lymphomas,originated from B-cells in 16 cases （32.65%） and from T-cells in 7 cases （14.29%）, with Burkitt's lymphoma being the most numerous of B-cell origin in 13 cases （26.53%）, and T-cell lymphoblastoid lymphoma being the most common of T-cell origin in 4 cases （8.16%）. The follow-up period was from 22 days to 6 years and 10 months, with 3 cases losing, 43 cases surviving, 3 cases dying, with a survival rate of 93 5%, and 3 cases relapsing, with a relapse rate of 6 5%. Conclusion:Children's head and neck malignant lymphoma has its own characteristics in terms of age of onset, gender distribution, site of onset, pathological type and treatment prognosis, which should be comprehensively assessed, diagnosed as early as possible, and multidisciplinary joint treatment actively carried out to propose personalized treatment plans.
Humans ; Male ; Female ; Child ; Head and Neck Neoplasms/therapy* ; Child, Preschool ; Retrospective Studies ; Adolescent ; Lymphoma/therapy* ; Survival Rate ; Hodgkin Disease ; Prognosis ; Infant ; Lymphoma, Non-Hodgkin

BACKGROUND: T-cell lymphoblastic lymphoma/acute lymphoblastic leukemia (T-LBL/ALL) is an aggressive form of hematological malignancy associated with poor prognosis in adult patients. Histone deacetylases (HDACs) are aberrantly expressed in T-LBL/ALL and are considered potential therapeutic targets. Here, we investigated the antitumor effect of a novel HDAC inhibitor, chidamide, on T-LBL/ALL. METHODS: HDAC1, HDAC2 and HDAC3 levels in T-LBL/ALL cell lines and patient samples were compared with those in normal controls. Flow cytometry, transmission electron microscopy, and lactate dehydrogenase release assays were conducted in Jurkat and MOLT-4 cells to assess apoptosis and pyroptosis. A specific forkhead box O1 (FOXO1) inhibitor was used to rescue pyroptosis and upregulated gasdermin E (GSDME) expression caused by chidamide treatment. The role of the FOXO1 transcription factor was evaluated by dual-luciferase reporter and chromatin immunoprecipitation assays. The efficacy of chidamide in vivo was evaluated in a xenograft mouse. RESULTS: The expression of HDAC1, HDAC2 and HDAC3 was significantly upregulated in T-LBL/ALL. Cell viability was obviously inhibited after chidamide treatment. Pyroptosis, characterized by cell swelling, pore formation on the plasma membrane and lactate dehydrogenase leakage, was identified as a new mechanism of chidamide treatment. Chidamide triggered pyroptosis through caspase 3 activation and GSDME transcriptional upregulation. Chromatin immunoprecipitation assays confirmed that chidamide led to the increased transcription of GSDME through a more relaxed chromatin structure at the promoter and the upregulation of FOXO1 expression. Moreover, we identified the therapeutic effect of chidamide in vivo . CONCLUSIONS This study suggested that chidamide exerts an antitumor effect on T-LBL/ALL and promotes a more inflammatory form of cell death via the FOXO1/GSDME axis, which provides a novel choice of targeted therapy for patients with T-LBL/ALL.
Humans ; Pyroptosis/drug effects* ; Forkhead Box Protein O1/genetics* ; Aminopyridines/pharmacology* ; Animals ; Mice ; Benzamides/pharmacology* ; Cell Line, Tumor ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy* ; Phosphate-Binding Proteins/metabolism* ; Histone Deacetylase Inhibitors/pharmacology* ; Jurkat Cells ; Histone Deacetylases/metabolism* ; Apoptosis/drug effects* ; Gasdermins

A 4-year-old boy was admitted to the hospital with a 3-day history of rash and intermittent abdominal pain, during which abnormal results from routine blood tests were discovered. Initially, he presented with acute jaundice hepatitis and pancytopenia. The patient's condition progressed rapidly, with recurrent fever, worsening jaundice of the skin and sclera, and progressively worsening hepatosplenomegaly. Liver function impairment and bone marrow failure continued to deteriorate, while cytokine levels continued to rise. After excluding infections, autoimmune diseases, tumors, genetic metabolic disorders, and toxicities, the patient was diagnosed with hepatitis-associated aplastic anemia (HAAA) complicated by hemophagocytic lymphohistiocytosis (HLH). Following treatment with corticosteroids, plasma exchange, intravenous immunoglobulin, and liver protection therapy, the patient's symptoms partially alleviated. Aplastic anemia complicated by HLH is relatively uncommon, and HAAA complicated by HLH is even rarer, often presenting insidiously and severely. This paper presents a case of HAAA complicated by HLH and summarizes previously reported cases in the literature, providing references for the early diagnosis and treatment of this condition.
Humans ; Lymphohistiocytosis, Hemophagocytic/therapy* ; Male ; Anemia, Aplastic/complications* ; Child, Preschool ; Hepatitis/complications*

OBJECTIVES: To study the clinical characteristics, efficacy, and prognosis of pediatric Langerhans cell histiocytosis (LCH). METHODS: A retrospective analysis was conducted on 72 children with newly diagnosed LCH. RESULTS: The median age of the 72 children was 5 years (range: 0-14 years), with skull involvement being the most common (56 cases, 77.8%). The BRAF-V600E mutation was not associated with clinical characteristics, efficacy, or prognosis (P>0.05). The 5-year overall survival rate was 91.6%±4.2%, and the 5-year event-free survival (EFS) rate was 67.5%±5.8%. The 6-week chemotherapy response rate and 5-year EFS rate were lower in the risk organ involvement group compared to the no risk organ involvement group (P<0.05). The five-year overall survival rates for the group with multi-system involvement and the group with platelet count ≥450×10⁹/L were respectively lower than those for the single-system involvement group and the group with platelet count <450×10⁹/L (P<0.05). Risk organ involvement is an independent risk factor for 5-year EFS (P<0.05). CONCLUSIONS Skull is the most commonly affected site in pediatric LCH. The BRAF-V600E mutation is not related to clinical characteristics, efficacy, or prognosis. Elevated platelet count, risk organ involvement, and multisystem involvement are associated with poor prognosis, with risk organ involvement being an independent risk factor for 5-year EFS.
Humans ; Histiocytosis, Langerhans-Cell/therapy* ; Child, Preschool ; Child ; Male ; Infant ; Female ; Adolescent ; Retrospective Studies ; Proto-Oncogene Proteins B-raf/genetics* ; Prognosis ; Infant, Newborn ; Mutation

The patient was a girl, aged 10 years, who was admitted due to fever for 5 days and pancytopenia in peripheral blood for 2 days. Bone marrow examination showed the presence of phagocytic activity, and peripheral blood tests showed pancytopenia, an increase in ferritin, a reduction in fibrinogen, increases in triglyceride and sCD25, and a reduction in natural killer cell activity, which led to the diagnosis of hemophagocytic lymphohistiocytosis (HLH). On the day of admission, the child developed convulsions and rapidly progressed to refractory status epilepticus, which was consistent with the manifestations of febrile infection-related epilepsy syndrome. HLH was controlled after active immunotherapy, with the sequela of refractory epilepsy, and her cognitive function was essentially within normal limits. This article reports the condition of febrile infection-related epilepsy syndrome caused by HLH for the first time in China, in order to improve the awareness of this disease among clinicians.
Humans ; Lymphohistiocytosis, Hemophagocytic/complications* ; Female ; Child ; Epilepsy/etiology* ; Fever/etiology* ; Epileptic Syndromes/etiology*

RAS-associated autoimmune lymphoproliferative disorder (RALD) is a rare congenital immunodeficiency disorder caused by somatic mutations in NRAS or KRAS. Its main pathological feature is immune dysregulation-induced hematologic destruction, presenting with symptoms resembling autoimmune diseases. RALD exhibits significant clinical heterogeneity, with manifestations including autoimmune phenomena, hepatosplenomegaly, lymphadenopathy, monocytosis, and increased susceptibility to infections. Owing to its rarity and its unclear nature, a standardized therapeutic regimen for RALD is currently lacking. This review summarizes the latest advances in the pathogenesis, clinical manifestations, differential diagnosis, and treatment of RALD, aiming to provide new insights and reference for the understanding and management of this disorder.
Humans ; Lymphoproliferative Disorders/etiology* ; Autoimmune Diseases/etiology* ; Autoimmune Lymphoproliferative Syndrome/genetics* ; GTP Phosphohydrolases/genetics* ; Proto-Oncogene Proteins p21(ras)/genetics* ; Mutation ; Membrane Proteins

OBJECTIVE: To explore the relationship between serum complement levels at diagnosis and prognosis in patients with aggressive non-Hodgkin lymphoma(NHL). METHODS: The clinical data of 102 patients with aggressive non-Hodgkin lymphoma diagnosed in the First Hospital of Lanzhou University from February 2017 to March 2023 were selected to analyze the correlation between serum complement C3 and C4 levels and prognosis of patients with aggressive NHL at the time of initial diagnosis. The optimal cut-off point of C3 and C4 were obtained by calculating the Jorden index through the receiver operating characteristic（ROC） curve, and 102 patients were divided into low C3 group (C3< 1.07) and high C3 group (C3≥1.07), low C4 group (C4< 0.255) and high C4 group (C4≥0.255). The effects of serum C3 and C4 levels on the prognosis of these patients were analyzed. RESULTS: ROC curve analysis showed that the area under the curve (AUC) of C3 and C4 in predicting the prognosis of aggressive NHL patients was 0.634 (95%CI ：0.525-0.743；P =0.025) and 0.651 (95%CI ：0.541-0.761；P =0.012), respectively. The optimal cut-off points for C3 and C4 were 1.07 and 0.255, respectively. K-M survival analysis showed that groups with high C3 and C4 levels had shorter progression-free survival (PFS) (P =0.0079; P =0.0092) and overall survival (OS) (P =0.021; P =0.021). Multivariate Cox analysis showed that high level serum complement C3 (HR=2.37, 95%CI : 1.07-5.24, P =0.034) and age ≥60 years (HR=2.34, 95%CI : 1.11-4.95, P =0.025) were independent risk factors for PFS in patients with aggressive NHL. High level complement C3 (HR=2.37, 95%CI : 1.09-5.13, P =0.029) and age ≥60 years at diagnosis (HR=2.40, 95%CI : 1.13-5.13, P =0.024) were independent risk factors for OS in patients with aggressive NHL. CONCLUSION The level of serum complement C3 at diagnosis is one of the prognostic factors in patients with aggressive NHL.
Humans ; Lymphoma, Non-Hodgkin/blood* ; Prognosis ; Complement C3/metabolism* ; Complement C4/metabolism* ; ROC Curve ; Male ; Female ; Middle Aged ; Adult ; Aged

OBJECTIVE: To analyze the clinical characteristics and prognosis of patients with adult T-cell leukemia/lymphoma (ATLL) in Ningde City, Fujian Province. METHODS: We retrospectively collected 23 cases diagnosed with adult T-cell leukemia/lymphoma in the Hematology Department of Ningde Hospital Affiliated to Ningde Normal University from 2014 to 2023, the clinical characteristics of patients were summarized and the prognosis was analyzed. The survival of patients treated with chemotherapy alone and chemotherapy combined with antiviral therapy was compared. RESULTS: All 23 patients were from the coastal endemic area of Fujian (Ningde City), 12 males and 11 females. The median age of onset was 59 (range: 31-84) years old. The clinical types were acute (18 cases) or lymphomatous (5 cases), and no smoldering or chronic type was seen. The most common clinical manifestations were, in order of prevalence, 20 cases of leukocytosis, 19 cases of lymph node enlargement, 13 cases of skin lesions, 13 cases of hypercalcemia. There was an elevation of lactate dehydrogenase (LDH) levels in more than 90% of cases, and β₂-microglobulin levels were elevated in 11 cases. Twelve of the 23 patients were treated with chemotherapy (partly in combination with antiviral therapy), one underwent allogeneic hematopoietic stem cell transplantation. The median overall survival of all patients was 2.3(0.2-13) months. Median survival was 3(2-11) months in the chemotherapy combined with antiviral therapy group, while that of the chemotherapy alone group was 2(0.2-13) months. CONCLUSION The clinical manifestations of adult T-cell leukemia/lymphoma in Ningde city, Fujian province are characteristic and the prognosis is unfavorable. Antiviral therapy may contribute to an improvement in the prognosis.
Humans ; Retrospective Studies ; Middle Aged ; Leukemia-Lymphoma, Adult T-Cell/diagnosis* ; Male ; Adult ; Female ; Prognosis ; Aged ; Antiviral Agents/therapeutic use* ; Aged, 80 and over ; China

OBJECTIVE: To investigate the effects of histone deacetylase (HDAC) levels on the proliferation and apoptosis of Burkitt lymphoma cells, and the changes in related signaling molecules in the PI3K/AKT/mTOR signaling pathway, so as to explore the pathogenesis of Burkitt lymphoma. METHODS: HDAC levels in Burkitt lymphoma were detected by RT-PCR and Western blot. CA46 and RAJI cells were treated with the HDAC selective inhibitor VPA. CCK8 assay was used to detect the proliferation ability of cells. Western Blot was used to measure the expression of apoptosis-related proteins, PI3K/AKT/mTOR signaling pathway proteins and their phosphorylation levels. RESULTS: The expression levels of classⅠ HDAC in Burkitt lymphoma were higher than those in normal cells, and the HDAC1 inhibitor VPA could inhibit the proliferation of CA46 and RAJI cells. VPA decreased HDAC expression in CA46 and RAJI cells, inhibited the phosphorylation of PI3K/AKT/mTOR pathway molecules AKT and p70S6K, increased the expression of apoptotic proteins Cleaved Caspase-3, Cleaved Caspase-8, Cleaved Caspase-9 and Bax, and decreased the expression of anti-apoptotic proteins Bcl-2 and PARP. CONCLUSION Inhibition of HDAC activity can Attenuate the proliferation of Burkitt lymphoma cells and induce apoptosis by inhibiting the PI3K/AKT/mTOR signaling pathway activity.
Humans ; Burkitt Lymphoma/pathology* ; Apoptosis ; Cell Proliferation ; Signal Transduction ; Proto-Oncogene Proteins c-akt/metabolism* ; Phosphatidylinositol 3-Kinases/metabolism* ; Cell Line, Tumor ; Histone Deacetylases/metabolism* ; TOR Serine-Threonine Kinases/metabolism* ; Histone Deacetylase Inhibitors/pharmacology* ; Phosphorylation