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BioRxiv : the Preprint Server For... May 2024Kaposi Sarcoma (KS) is a complex tumor caused by KS-associated herpesvirus 8 (KSHV). Histological analysis reveals a mixture of "spindle cells", vascular-like spaces,...
UNLABELLED
Kaposi Sarcoma (KS) is a complex tumor caused by KS-associated herpesvirus 8 (KSHV). Histological analysis reveals a mixture of "spindle cells", vascular-like spaces, extravasated erythrocytes, and immune cells. In order to elucidate the infected and uninfected cell types in KS tumors, we examined skin and blood samples from twelve subjects by single cell RNA sequence analyses. Two populations of KSHV-infected cells were identified, one of which represented a proliferative fraction of lymphatic endothelial cells, and the second represented an angiogenic population of vascular endothelial tip cells. Both infected clusters contained cells expressing lytic and latent KSHV genes. Novel cellular biomarkers were identified in the KSHV infected cells, including the sodium channel SCN9A. The number of KSHV positive tumor cells was found to be in the 6% range in HIV-associated KS, correlated inversely with tumor-infiltrating immune cells, and was reduced in biopsies from HIV-negative individuals. T-cell receptor clones were expanded in KS tumors and blood, although in differing magnitudes. Changes in cellular composition in KS tumors were identified in subjects treated with antiretroviral therapy alone, or immunotherapy. These studies demonstrate the feasibility of single cell analyses to identify prognostic and predictive biomarkers.
AUTHOR SUMMARY
Kaposi sarcoma (KS) is a malignancy caused by the KS-associated herpesvirus (KSHV) that causes skin lesions, and may also be found in lymph nodes, lungs, gastrointestinal tract, and other organs in immunosuppressed individuals more commonly than immunocompetent subjects. The current study examined gene expression in single cells from the tumor and blood of these subjects, and identified the characteristics of the complex mixtures of cells in the tumor. This method also identified differences in KSHV gene expression in different cell types and associated cellular genes expressed in KSHV infected cells. In addition, changes in the cellular composition could be elucidated with therapeutic interventions.
PubMed: 38746135
DOI: 10.1101/2024.05.01.592010 -
Journal of Neurosurgery. Case Lessons May 2024Skull lesions are a common finding in children, with dermoid cysts and eosinophilic granulomas observed most frequently. However, primary intraosseous xanthomas of the...
BACKGROUND
Skull lesions are a common finding in children, with dermoid cysts and eosinophilic granulomas observed most frequently. However, primary intraosseous xanthomas of the calvaria, which are lytic, expansile lesions that develop without underlying hyperlipidemic disease, are rare in children, with only one prior case reported.
OBSERVATIONS
The authors describe the case of a healthy 6-year-old male who presented with a 2-month history of an enlarging midline skull mass that developed after a recent minor trauma. Imaging showed a full-thickness, lytic frontal bone lesion with an aggressive appearance and heterogeneous contrast enhancement. The patient underwent gross-total resection of the lesion with placement of a mesh cranioplasty. Histopathology revealed a primary intraosseous xanthoma. The patient was discharged on postoperative day 2 and required no further treatment at the 1-month follow-up.
LESSONS
This is the first reported case of a primary intraosseous xanthoma in the frontal bone of a pediatric patient. It emphasizes the need to include primary xanthomas in the differential diagnosis for pediatric skull lesions, particularly when the lesion has an aggressive radiographic appearance or the patient has a history of focal trauma. Furthermore, our findings indicate that resection, together with subsequent monitoring for lesion reccurrence, is an adequate first-line treatment.
PubMed: 38739949
DOI: 10.3171/CASE23640 -
Maedica Mar 2024Enchordoma of the distal phalange of the thumb is extremely rare. We report a case of 31-year-old man who presented with a pathological fracture of the left thumb....
Enchordoma of the distal phalange of the thumb is extremely rare. We report a case of 31-year-old man who presented with a pathological fracture of the left thumb. Imaging evaluation revealed a lytic lesion and surgical curettage with bone graft was performed after fracture healing. Histological examination confirmed the diagnosis of enchordoma. The postoperative period was uncomplicated without signs of recurrence. Lytic lesions in the thumb are uncommon occurrences and necessitate a comprehensive examination to determine their potential causes. Given the significant functional role of the thumb compared to other fingers, it is crucial to undergo radiological assessment and further investigation of these lytic lesions.
PubMed: 38736932
DOI: 10.26574/maedica.2024.19.11.177 -
International Journal of Surgery Case... May 2024Maxillomandibular involvement with brown tumours is rare, especially in the paediatric population. We present a rare case of a young girl with brown tumour (BT)...
INTRODUCTION AND IMPORTANCE
Maxillomandibular involvement with brown tumours is rare, especially in the paediatric population. We present a rare case of a young girl with brown tumour (BT) occurring in the mandible as the first manifestation of hyperparathyroidism.
CASE PRESENTATION
A 7-year-old black female, presented with a 6-month history of a swelling on the left mandible. Patient had a history of intractable gastrointestinal symptoms such as nausea, vomiting and abdominal cramps. Biopsy confirmed the lesion as a giant cell lesion. Elevated parathyroid hormone (PTH) levels confirmed the diagnosis of a BT of hyperparathyroidism. The patient underwent surgical intervention involving parathyroidectomy. This was followed by segmental resection of the mandibular tumour two years later.
CLINICAL DISCUSSION
Brown Tumour is a rare, non-neoplastic lesion resulting from abnormal bone metabolism secondary to hyperparathyroidism. BT predominantly arise in long bones and the axial skeleton. Maxillomandibular involvement is very rare. In the present case, after parathyroidectomy, normal PTH and calcium levels were restored, and there was relief of gastrointestinal tract hypercalcaemic symptoms. However, there was no spontaneous regression of the mandibular tumour over a 2-year observation period. Hemimandibulectomy followed by reconstruction with a plate and costochondral graft was then performed.
CONCLUSION
It is difficult to differentiate BT from other giant cell lesions without blood chemistry revealing hyperparathyroidism. The distinction is imperative to avoid mutilating and aggressive treatment for BTs. Although BTs are amenable for conservative treatment, the present case illustrates that for bigger tumours, in the absence of spontaneous regression, aggressive surgical treatment may be required.
PubMed: 38735218
DOI: 10.1016/j.ijscr.2024.109735 -
Animals : An Open Access Journal From... Apr 2024Osteolytic lesions in loggerhead sea turtles () during rehabilitation are attributed to multiple causes, including gas embolism, hypothermia, and osteomyelitis due to...
Osteolytic lesions in loggerhead sea turtles () during rehabilitation are attributed to multiple causes, including gas embolism, hypothermia, and osteomyelitis due to bacterial or fungal infection. This study reports the appearance of osteolytic lesions in a sub-adult loggerhead sea turtle with involvement of the right fore and hind flippers, visible swelling of the elbow and knee joints, and accompanied by lameness after 45 days of rehabilitation. Radiographs and computed tomography revealed multiple lytic bone lesions. This was the fourth rehabilitation admission of the turtle after being accidentally captured by trawler ships (bycatch) in 2019, 2020, 2022, and 2023. Potential causes were dysbaric osteonecrosis due to a past decompression sickness event and hypothermia with osteomyelitis from bacterial infection. Blood cultures and antibiotic susceptibility testing led to the isolation of responsive to enrofloxacin. This study investigates extensive fore and hind flipper involvement in a sub-adult loggerhead turtle, aiming to determine causes and risk factors. The pathogenesis and significance of these lesions is discussed.
PubMed: 38731321
DOI: 10.3390/ani14091317 -
Journal of Neurological Surgery Reports Apr 2024Langerhans cell histiocytosis (LCH) is a rare proliferative systemic disease characterized by the growth of abnormal dendritic cells and wide-ranging organ...
Langerhans cell histiocytosis (LCH) is a rare proliferative systemic disease characterized by the growth of abnormal dendritic cells and wide-ranging organ involvement. This condition can affect individuals of all ages, but most commonly children, with a peak incidence in toddlers. Symptoms may vary depending on the affected organ or system. A 43-year-old man presented with a left temporal stabbing headache unresponsive to management with therapy and nonsteroidal anti-inflammatory drugs. Initial evaluation revealed a contrast-enhanced left temporal extra-axial lesion with bone and muscle compromise. Differential diagnoses, including multiple myeloma, were explored. Initial laboratory tests and imaging studies showed no other abnormalities, except for splenomegaly and a residual granuloma in the left lung. En bloc resection of the lesion was recommended. The patient underwent surgical intervention, which included resection of the dural lesion and all borders of an infiltrating tumor within the temporalis muscle and the affected portion of the left temporal bone. Posterior pathological examination revealed LCH. Postoperative course was uneventful. Follow-up appointments were scheduled after pathology results confirmed the diagnosis. Patient has continued follow-up for the following 3 months after the surgical procedure. Further evaluations are pending. This case report corresponds to a patient with LCH. These patients are individualized and stratified based on local or systemic involvement to determine the most appropriate type of management. This is a rare case as LCH is rare in older patients and the initial presented lesion initially mimicked a meningioma; however, its atypical behavior and associated lytic compromise led to consideration of possible differential diagnoses. LCH can present with lytic bone lesions, mimicking other conditions, including infiltrative neoplastic lesions. Early diagnosis and appropriate surgical management are essential for optimal patient outcomes. Long-term follow-up is crucial to monitor disease progression and response to treatment.
PubMed: 38690582
DOI: 10.1055/s-0044-1786360 -
Clinical Case Reports May 2024Hemophilic pseudotumors are rare complications occurring in individuals with severe hemophilia, characterized by progressive cystic swellings in muscles and/or bones due...
KEY CLINICAL MESSAGE
Hemophilic pseudotumors are rare complications occurring in individuals with severe hemophilia, characterized by progressive cystic swellings in muscles and/or bones due to recurrent bleeding. Timely initiation of factor VIII replacement is crucial.
ABSTRACT
Hemophilic pseudotumors are rare complications occurring in individuals with severe hemophilia, characterized by progressive cystic swellings in muscles and/or bones due to recurrent bleeding. Although their incidence has decreased with the advent of factor VIII replacement therapy, they still create challenges, particularly in regions with limited access to medical care. Here, we present a case report of a hemophilic pseudotumor of the knee joint in a 15-year-old male with hemophilia A. The patient presented with severe left knee pain, swelling, and restricted range of motion, prompting further investigation. Imaging studies revealed lytic lesions, and MRI bone signal changes consistent with hemophilic pseudotumors. Prompt initiation of factor VIII replacement therapy and supportive management led to a significant improvement in symptoms and joint functionality. Follow-up after 2 months showed that the swelling had significantly reduced in size, with marked improvement in the functionality of the knee joint. This case confirms what is already known in the hemophilia literature: how important it is to prevent, diagnose, and treat pseudotumors early in hemophilia. However, longer clinical and imaging follow-up of this case is necessary to determine whether the complaints associated with pseudotumors resolve with hematologic treatment or will require surgical treatment.
PubMed: 38689692
DOI: 10.1002/ccr3.8822 -
Revista Medica de Chile May 2023Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate...
Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate different systems, mainly affecting children. We present the case of a 38-year-old man with a long-standing history of multiple tooth loss without association with trauma, smoking, or poor dental hygiene. Skull computed tomography (CT) showed multiple lytic jaw lesions. Jaw biopsy and immunohistochemical results were compatible with the finding of LCH. The patient evolved with polyuria, polydipsia, and nocturia, confirming the presence of diabetes insipidus and panhypopituitarism through hormonal studies. Magnetic resonance imaging (MRI) of the brain shows a hypothalamic neoplasm with infundibular involvement and an image suggestive of a pituitary granuloma. The treatment consisted of maxillobuccofacial defocusing, hormonal supplementation, chemotherapy, and radiotherapy with favorable evolution.
Topics: Humans; Male; Hypopituitarism; Adult; Histiocytosis, Langerhans-Cell; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 38687548
DOI: 10.4067/s0034-98872023000500659 -
Clinical Case Reports May 2024Giant cell tumor of bone (GCT) is a rare neoplasm which often presents as a lytic lesion in the epiphyseal region of long bones and which are usually accompanied by...
KEY CLINICAL MESSAGE
Giant cell tumor of bone (GCT) is a rare neoplasm which often presents as a lytic lesion in the epiphyseal region of long bones and which are usually accompanied by pain, swelling, and restricted movement.
ABSTRACT
Giant cell tumor of bone (GCT) is a rare neoplasm that affects individuals in their third and fourth decades of life. Clinically, it often presents as a lytic lesion in the epiphyseal region of bones, notably the distal femur and proximal tibia. Radiologically, GCT appears as a distinct lytic lesion in the epiphyseal region. Histopathologically, GCTs are composed of mononuclear cells, macrophages, and multinuclear giant cells, indicative of osteoclastogenic stromal tumors. A 37-year-old man presented with left wrist pain, swelling, and restricted movement persisting for a year, worsening over the last 7 months. Radiographic assessments revealed a distal radius bone mass involving the radiocarpal joint. Biopsy confirmed a GCT with extension into peripheral muscle. PET/CT scan showed localized pathology without metastasis. Histopathologically, GCT exhibited multinucleated giant cells, spindle cells, and aneurysmal bone cyst-like regions with coagulation necrosis. Surgical resection involved en-bloc removal and reconstruction with a non-vascularized radius bone graft. Postoperatively, the patient showed no complications at the one-year follow-up, suggesting successful intervention.
PubMed: 38681027
DOI: 10.1002/ccr3.8830 -
Biochemia Medica Jun 2024Less than 2% of all symptomatic multiple myeloma (MM) has immunoglobulin D (IgD) as monoclonal protein. Biclonal gammopathy is much rarer. At the time of diagnosis,...
Less than 2% of all symptomatic multiple myeloma (MM) has immunoglobulin D (IgD) as monoclonal protein. Biclonal gammopathy is much rarer. At the time of diagnosis, disease is often in advanced stage, including renal failure, anemia, hypercalcemia and lytic bone lesions. Due to the rarity of myeloma itself, but also due to the fact that anti-IgD antisera is not used in routine practice, there are only a few reports of IgD MM described in the literature. This case report describes a patient with IgD lambda MM with anemia and renal failure. Anemia, renal failure, and > 80 percent plasma cells in bone biopsy in our patient with IgD lambda MM meets International Myeloma Working Group criteria for diagnosis of MM. The patient clinical course was similar to other patients with IgD MM. The final result of serum protein immunofixation (s-IFE) showed IgD lambda and free lambda monoclonal bands. To prevent misdiagnosis, it is necessary to use anti-IgD and anti-IgE antisera whenever the serum protein immunofixation with IgA, IgM, IgG, kappa and lambda antiserums shows a kappa or lambda monoclonal band without monoclonal band in heavy chain.
Topics: Humans; Multiple Myeloma; Immunoglobulin lambda-Chains; Immunoglobulin D; Male; Middle Aged
PubMed: 38665868
DOI: 10.11613/BM.2024.020801