Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 646
Filtrar
1.
Cancer Sci ; 2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39288772

RESUMO

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare peripheral T-cell lymphoma characterized by cutaneous lesions and immunologic manifestations. The five-year survival rate of SPTCL has been reported to be over 80%, indicating a favorable prognosis. Recent studies have uncovered recurrent germline variants in HAVCR2, encoding an immunomodulator. In this study, we integrated whole-exome sequencing data from 60 samples collected from 36 SPTCL patients, encompassing six patients of our cohort and 30 patients of publicly available data. We identified 138 somatic mutations in skin tumors of 24 patients and HAVCR2 germline mutations in 23 of 29 patients. HAVCR2 p.Tyr82Cys mutations were identified in four of six Japanese patients. During the clinical courses of four patients, cyclophosphamide, hydroxydaunomycin, vincristine, and prednisone were administered to all patients, but it resulted in incomplete responses in all four patients. However, disease conditions of all patients remained stable with additional treatment, including autologous peripheral blood stem cell transplantation. Over a 7.5-year median follow-up, one patient developed autoimmune-related diseases, while one developed other hematological malignancy, resulting in death. To our knowledge, this is the first report of recurrent HAVCR2 germline mutations in Japanese patients, suggesting the necessity for long-term follow-up.

2.
Pancreatology ; 24(6): 870-877, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39147659

RESUMO

BACKGROUND: Spontaneous pancreatic portal vein fistula (PPVF) - a rare complication of pancreatic inflammation - varies widely in presentation and means of diagnosis but has been previously associated with bleeding complications and mortality. A systematic review of published literature was performed to assess the frequency of outcomes. METHODS: A search of electronic databases (PubMed, Ovid MEDLINE, Scopus, EMBASE, gray literature) resulted in 1667 relevant unique manuscripts; 52 met inclusion criteria. RESULTS: A total of 74 unique (male n = 47, 63.5 %) patients were included. Mean age was 53.5 (±11.9) years. History of alcohol use was reported in 55 (74.3 %). Underlying chronic pancreatitis (CP) was present in 49 (66.2 %). In cases where presenting symptoms were reported (n = 57, 77.4 %), the most frequent were abdominal pain (63.5 %), weight loss (14.9 %), rash (12.2 %), nausea/vomiting (12.2 %), and polyarthritis (9.5 %). Computed tomography was the most common imaging modality used to confirm the diagnosis (n = 20, 27.0 %), followed by magnetic resonance cholangiopancreatography (n = 14, 18.9 %). Portal vein thrombosis was reported in 57 (77.0 %), and bleeding events (luminal, variceal, or intra-pseudocyst) were reported in 13(17.6 %) patients. Younger age was associated with higher risk of bleeding events. Mortality was reported in 12 (16.2 %) patients at any time during follow up. Older age and polyarthritis at presentation were associated with mortality. CONCLUSIONS: PPVF is a rare and potentially fatal condition, though rates of bleeding complication and death were relatively low in this population. High-quality observational studies are needed to better understand the pathophysiology and natural history of this diagnosis.


Assuntos
Fístula Pancreática , Veia Porta , Humanos , Veia Porta/diagnóstico por imagem , Veia Porta/patologia , Fístula Pancreática/etiologia , Fístula Pancreática/epidemiologia , Masculino , Pessoa de Meia-Idade , Feminino , Fístula Vascular/complicações , Fístula Vascular/diagnóstico por imagem
3.
Ann Hematol ; 2024 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-39177795

RESUMO

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of T-cell lymphomas with a characteristic feature of subcutaneous nodules associated with hemophagocytic lymphohistiocytosis (HLH). Treatment options for SPTCL are mainly chemotherapy (CMT) or immunosuppressive agents with selection currently dependent on physician decisions. Outcomes between the 2 treatment remedies have not yet been comprehensively compared. This study aimed to compare complete remission (CR) rates between SPTCL patients receiving cyclosporin (CSA)-based regimen (CSA +/- steroid) and CMT. The 5-year overall survival (OS) and 5-year progression free survival (PFS) were also analyzed. Clinical data from patients with SPTCL were drawn from the Thai Lymphoma Study Group registry who were newly diagnosed between 2007 and 2023. A total of 93 patients were selected with 45 cases having received CSA-based regimen and 48 cases having received CMT. There were more patients with limited stage at skin in the CSA group (63.8% vs. 36.2%, p = 0.003), while more patients with hepato- and/or splenomegaly were found in the CMT group (56.2% vs. 24.5%; p = 0.002). Germline HAVCR2 mutations were detected in 26/33 (78.8%) cases. The CR rate was significantly higher in patients treated with CSA (87% vs. 58.3%; OR = 6.5 [95%CI, 2.7-15.3]; p = 0.002). At a median follow-up of 87.8 months (range 0-185), the 5-year OS (98% vs. 87%, p = 0.19) and PFS (72.4% vs. 69.2%, p = 0.19) showed a trend favoring patients treated with CSA. Based on our study, CSA-based regimens are the preferred first-line treatment remedy for newly diagnosed SPTCL, especially in patients with limited cutaneous involvement.

4.
BMC Gastroenterol ; 24(1): 48, 2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-38267839

RESUMO

PURPOSE: Mesenteric panniculitis (MP) represents the uncommon, benign and chronic inflammatory disorder affecting the mesenteric adipose tissues. Its etiology, diagnosis and treatment remain unnoticed. Our report focused on shedding more lights on this condition. PATIENTS AND METHODS: Seventeen MP patients were identified by searching the electronic medical record system in the Zhengzhou Ninth People's Hospital using the search terms "Mesenteric panniculitis" from October 2015 to March 2023. All cases were diagnosed with MP through computed tomography (CT). Their clinical features and treatments were analyzed. RESULTS: There were altogether 17 cases enrolled for this analysis. The male to female ratio was 8:9, and the median age at diagnosis was 64 (range: 37-96) years. There were 15 patients (88.2%) showing abdominal pain to varying degrees. The proportions of symptoms of nausea, vomiting and fever were 23.5%, 23.5% and 41.2%, respectively. Neoplastic disease was present in 3 patients (17.6%). Meanwhile, 9 patients (52.9%) had gallstones, 3 (17.6%) had cholecystitis and 1 (5.9%) had gallbladder polyps. Six patients (35.3%) received antibiotics treatment only and 1 (5.9%) received oral antibiotics and prednisone. One patient (5.9%) received antibiotics followed by prednisone treatment, because the symptoms were significantly relieved after antibiotic treatment, while the disease recurred soon after, and the symptoms improved again after prednisone treatment. The abdominal pain in 9 patients (52.9%) was relieved spontaneously. Two patients (11.8%) died, including one due to respiratory failure caused by pneumonia and the other one because of pancreatic cancer with lung and liver metastases. CONCLUSION: MP is a poorly understood chronic inflammatory disease. Patients often have abdominal pain as the main symptom, accompanied by comorbidities in the gallbladder, and the prognosis is usually good after correct diagnosis and treatment, Therefore, the present report aims to promote the awareness among clinicians of patients with non-classic abdominal symptoms, so as to avoid misdiagnosis or missed diagnosis.


Assuntos
Paniculite Peritoneal , Humanos , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Paniculite Peritoneal/complicações , Paniculite Peritoneal/diagnóstico , Paniculite Peritoneal/terapia , Prednisona , Recidiva Local de Neoplasia , China , Dor Abdominal/etiologia , Antibacterianos/uso terapêutico
5.
Dermatology ; 240(2): 226-232, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38185114

RESUMO

INTRODUCTION: Erythema nodosum (EN) is the most common form of panniculitis that predominantly affects the shins. While EN in atypical sites has been described by many authors, there are currently only case studies published on this topic. This study aimed to evaluate clinical differences between patients suffering from EN on the shins, compared to patients with EN in atypical locations. METHODS: We analyzed 105 patients in a retrospective, single-center study at a university hospital in Switzerland. Typical EN was defined as lesions, found only on the lower legs, while atypical EN as lesions on the upper legs, trunk, arms, or face, only or in addition to lesions on the lower legs. The patients were assessed for age, gender, dermatologic history, time until first medical consultation, time to diagnosis, and time until remission. Further, etiology, symptoms, and applied therapies were investigated. Findings were then compared between the typical and atypical EN cohorts. RESULTS: Overall, we included 70 patients (37.99 ± 15.67 [3-81] years) with EN solely on the shins and 35 patients (41.27 ± 16.85 [9-76] years) with EN on other locations. Interestingly, time until diagnosis was significantly shorter in atypical EN (p = 0.034, 1.14 ± 4.68 vs. 0.46 ± 1.14 months). Time to remission was similar in both groups (3.61 ± 2.73 vs. 3.05 ± 2.86 months, respectively). Sarcoidosis was the only etiologic factor significantly more frequent in atypical EN compared to typical EN (23% vs. 9%, p = 0.042). Besides that, solely subtle differences were seen regarding etiology, gender, age at onset, course of the disease, and symptoms. CONCLUSIONS: Our study suggests that only minor alterations between both study populations exist. Significant differences were found in time to diagnosis (shorter for atypical EN), as well as in sarcoidosis as an etiologic factor (more frequent in atypical EN). While adalimumab was only prescribed in atypical EN cases, prognosis seems to be similar for typical and atypical EN (similar time to remission, similar amount of reoccurring cases). Due to the limited sample size, however, our study population may have been too small to detect the relevant differences, and bigger studies may be needed.


Assuntos
Eritema Nodoso , Paniculite , Sarcoidose , Humanos , Eritema Nodoso/diagnóstico , Estudos Retrospectivos , Paniculite/complicações , Paniculite/diagnóstico , Paniculite/patologia , Resultado do Tratamento
6.
Skin Res Technol ; 30(8): e13899, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39112439

RESUMO

BACKGROUND: Due to its rarity, subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is often misdiagnosed as benign panniculitis, and there are no standardized treatment guidelines for SPTCL. Aurora kinase A (AURKA) plays a regulatory role in both mitosis and meiosis. Cells treated with an AURKA inhibitor showed severe mitotic delay, which triggered apoptosis. MATERIALS AND METHODS: Ten cases of SPTCL were collected in this study, and immunohistochemistry was performed to detect AURKA expression in the skin tissues of these cases. Control groups were set as follows: 1) 10 cases of inflammatory panniculitis; 2) 9 healthy individuals. Fisher's exact test was used to compare the positive rates of AURKA among various groups. RESULTS: An average onset age of 27.3 years was found in 10 SPTCL cases. Clinically, these patients primarily presented with multiple subcutaneous nodules on the trunk and lower extremities, accompanied by intermittent high fever. One case showed lymph node metastasis, while no other distant organ metastasis being observed in any case. Pathologically, there was an infiltration of a large number of atypical lymphocytes within the fat lobules, characterized as a cytotoxic type. AURKA stanning was positive in 6 out of 10 SPTCL cases, while no positive cases were found in the control groups. CONCLUSION: 1) SPTCL predominantly affects young individuals and can be identified by nodular erythema on the trunk, intermittent high fever, and infiltration of atypical cytotoxic lymphocytes within fat lobules. 2) For early-stage cases without metastasis, monotherapy with glucocorticoids or immunosuppressants such as cyclosporine can be considered. 3) High expression of AURKA in SPTCL tissues suggests that AURKA could be a potential biomarker for disease diagnosis, providing a theoretical basis for further targeted therapy.


Assuntos
Aurora Quinase A , Linfoma de Células T , Paniculite , Humanos , Aurora Quinase A/genética , Aurora Quinase A/metabolismo , Paniculite/enzimologia , Paniculite/patologia , Feminino , Masculino , Adulto , Linfoma de Células T/patologia , Linfoma de Células T/enzimologia , Linfoma de Células T/genética , Adulto Jovem , Diagnóstico Diferencial , Pessoa de Meia-Idade , Adolescente , Pele/patologia , Imuno-Histoquímica
7.
Adv Exp Med Biol ; 1448: 429-440, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39117831

RESUMO

Hemophagocytic lymphohistiocytosis (HLH) has been described for decades in association with malignancies (M-HLH). While its mechanism is unknown, M-HLH has a poor prognosis, ranging from 10% to 30% overall survival. Mature T-cell lymphomas, diffuse large B-cell lymphoma, and Hodgkin lymphoma, with or without viral co-triggers such as Epstein-Barr virus, are among the most frequent underlying entities. Most M-HLH cases occur at the presentation of malignancy, but they may also occur during therapy as a result of immune compromise from chemotherapy (HLH in the context of immune compromise, IC-HLH) and (typically) disordered response to infection or after immune-activating therapies (Rx-HLH, also known as cytokine release syndrome, CRS). IC-HLH typically occurs months after diagnosis in the context of fungal, bacterial, or viral infection, though it may occur without an apparent trigger. Rx-HLH can be associated with checkpoint blockade, chimeric antigen receptor T-cell therapy, or bispecific T-cell engaging therapy. Until recently, M-HLH diagnosis and treatment strategies were extrapolated from familial HLH (F-HLH), though optimized diagnostic and therapeutic treatment strategies are emerging.


Assuntos
Neoplasias Hematológicas , Linfo-Histiocitose Hemofagocítica , Linfo-Histiocitose Hemofagocítica/imunologia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/terapia , Humanos , Neoplasias Hematológicas/imunologia , Neoplasias Hematológicas/terapia , Neoplasias/imunologia , Neoplasias/terapia , Síndrome da Liberação de Citocina/imunologia , Síndrome da Liberação de Citocina/etiologia , Inibidores de Checkpoint Imunológico/uso terapêutico
8.
Pediatr Dermatol ; 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38887123

RESUMO

Acquired generalized lipodystrophy (AGL) is a rare disease characterized by variable loss of adipose tissue and concurrent metabolic derangements, typically with childhood or adolescent onset. AGL has three subclassifications: panniculitis (type 1), autoimmune disease (type 2), and idiopathic (type 3). This report highlights a rare case of AGL type 1 in a previously healthy 3-year-old female who presented with diffuse erythematous subcutaneous nodules, progressive lipoatrophy, and histopathological findings of a lobular panniculitis.

9.
Skeletal Radiol ; 53(10): 2051-2065, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38194095

RESUMO

Clinical manifestations of dermatological and musculoskeletal conditions can sometimes overlap, leading to confusion in diagnosis. Patients with nail and skin infections may undergo imaging examinations with suspicions of muscle, tendon, or joint injuries. Dermatological infections often involve soft tissues and musculoskeletal structures, and their etiology can range from fungi, bacteria, viruses, to protozoa. Relying solely on physical examination may not be sufficient for accurate diagnosis and treatment planning, necessitating the use of complementary imaging exams. The objective of this paper is to present and discuss imaging findings of the main infectious conditions affecting the nail apparatus and skin. The paper also highlights the importance of imaging in clarifying diagnostic uncertainties and guiding appropriate treatment for dermatological conditions.


Assuntos
Doenças da Unha , Humanos , Doenças da Unha/diagnóstico por imagem , Diagnóstico Diferencial , Dermatopatias Infecciosas/diagnóstico por imagem , Diagnóstico por Imagem/métodos
10.
Australas J Dermatol ; 65(2): 167-170, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38057959

RESUMO

A 29-year-old Caucasian woman presented with a 3-month history of bilateral lower limb swelling with painful erythematous nodules on shins without ulceration. She had been taking minocycline for acne vulgaris for 3 years. Biochemical investigations showed deranged liver function test with positive ANA and mixed antinuclear factor (ANF) pattern. A skin biopsy was in keeping with a diagnosis of nodular vasculitis. Her skin lesions and liver function test improved within 3 months of stopping the minocycline treatment. This case report raises the awareness that minocycline could be a potential cause of nodular vasculitis, patients on minocycline should be closely monitored and minocycline should ideally not be prescribed for more than 12 weeks, given the possible adverse effects.


Assuntos
Acne Vulgar , Eritema Endurado , Vasculite , Feminino , Humanos , Adulto , Minociclina/efeitos adversos , Pele/patologia , Acne Vulgar/complicações , Vasculite/induzido quimicamente , Vasculite/tratamento farmacológico , Vasculite/complicações
11.
Emerg Radiol ; 31(5): 661-668, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38969913

RESUMO

BACKGROUND: Mesenteric panniculitis is a rare condition and refers to benign and nonspecific inflammation of mesenteric fat. OBJECTIVES: This study aimed to evaluate the hypothesis of a greater prevalence of mesenteric panniculitis in patients with urolithiasis. MATERIALS AND METHODS: In this cross-sectional study, abdominopelvic CT scans of 500 patients were reviewed for the presence of urolithiasis and mesenteric panniculitis. The inclusion criteria were patients who were referred with acute abdominal pain and were suspected of having urolithiasis or other urinary conditions and who had undergone abdominopelvic CT scan. Subcutaneous fat thickness was measured, and pain intensity was recorded by patient evaluation. RESULTS: Mesenteric panniculitis was found in 10 patients, all of whom (100%) had urinary stones (ureter or kidney or both), and none of them had previous surgeries or known malignancies. The prevalence of panniculitis was significantly greater in the group with urolithiasis. In the urolithiasis group, subcutaneous fat thickness was greater in patients with panniculitis, although the difference was not statistically significant. In the subgroup analysis, pain intensity was not significantly greater in patients with panniculitis. CONCLUSION: Mesenteric panniculitis is more prevalent among patients with urolithiasis, but it seems that it does not change the intensity of the pain.


Assuntos
Paniculite Peritoneal , Tomografia Computadorizada por Raios X , Urolitíase , Humanos , Masculino , Feminino , Paniculite Peritoneal/diagnóstico por imagem , Paniculite Peritoneal/complicações , Urolitíase/diagnóstico por imagem , Urolitíase/complicações , Pessoa de Meia-Idade , Estudos Transversais , Adulto , Idoso , Prevalência , Idoso de 80 Anos ou mais , Estudos Retrospectivos , Medição da Dor
12.
Vet Dermatol ; 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38828608

RESUMO

The authors describe a case of presumptive feline subcutaneous fat sclerosis, a condition reported only once previously (in 1987) and diagnosed with postmortem examination. We describe radiographic, computed tomography scan and histopathological findings, and partial response to oral methylprednisolone and Vitamin E.

13.
Vet Dermatol ; 35(2): 207-218, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37904626

RESUMO

BACKGROUND: Primary cutaneous lymphoma represents 0.2%-3% of all feline lymphomas, with nonepitheliotropic lymphomas being the most common. In humans and dogs, subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a primary nonepitheliotropic lymphoma with a T-cell phenotype developing in the subcutis and often mimicking inflammation. OBJECTIVE: The aim of this report is to describe pathological, phenotypical and clonal features of SPTCL in cats. ANIMALS: Six cats with SPTCL were included in this study. MATERIALS AND METHODS: Skin biopsies were formalin-fixed, routinely processed and stained. Histological and immunohistochemical investigation for anti-CD18, CD204, CD79a, CD20, CD3, FeLVp27and FeLVgp70 and clonality assessment were performed. RESULTS: Four male and two female domestic shorthair cats, mean age 11.2 years, developed SPTCL in the abdominal (three), inguinal (two) and thoracic (one) regions. Variably pleomorphic neoplastic lymphoid cells were present in the panniculus in percentages, expanding the septa (six of six) and extending into fat lobules in one of six cats. Tumours were associated with elevated numbers of neutrophils (five of six), lesser macrophages (six of six) and variable necrosis (six of six). Neoplastic cells expressed CD3+ (six of six), with clonal T-cell receptor rearrangement detected in five of six cats. CONCLUSIONS AND CLINICAL RELEVANCE: This is the first description of SPTCL in cats. Lesions can be confused with panniculitis, leading to delay in diagnosis and therapy. Awareness of this neoplastic disease is relevant to avoid misdiagnoses and to gain greater knowledge about the disease in cats.


Assuntos
Doenças do Gato , Doenças do Cão , Linfoma Cutâneo de Células T , Linfoma de Células T , Linfoma , Paniculite , Humanos , Gatos , Masculino , Animais , Feminino , Cães , Linfoma de Células T/diagnóstico , Linfoma de Células T/veterinária , Linfoma de Células T/patologia , Paniculite/diagnóstico , Paniculite/veterinária , Linfoma/veterinária , Pele/patologia , Linfoma Cutâneo de Células T/patologia , Linfoma Cutâneo de Células T/veterinária , Doenças do Gato/diagnóstico
14.
Z Rheumatol ; 2024 Jun 17.
Artigo em Alemão | MEDLINE | ID: mdl-38884811

RESUMO

Erythema nodosum (EN) is the most frequently occurring form of acute panniculitis. It is characterized by painful red to livid raised nodules or bumps that typically occur symmetrically in the shin area. The cause of EN is often a reaction of the immune system to various triggers including infections, inflammatory diseases or medications. In approximately half of the cases no trigger can be identified. After treatment of the underlying pathology EN is typically self-limiting.

15.
J Pak Med Assoc ; 74(5): 993-997, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38783455

RESUMO

Mesenter ic p anniculitis (MP) is a b enign infla mmatory condi tion of the abdomin al mesentery, whi ch presents with a wid e variety of symptoms. I t is diagnosed non - invasively through com puted to mography (CT ) scan, whereas biopsy is still co nside red th e gold standa rd. Steroids are the first line of treatment. Here, we report four cases who presented with abdominal pain. These patients were overweight and the CT scan findings were suggestive of mese nte ric panniculitis. Three cases had concomitant non- alcoholic steatohep atitis w ith el evated alanine transaminase levels, dyslipidaemia, and insulin resistance. FibroSca n showed moderate to severe steatosis. PNPLA3 rs738409 genotype was homozygous positive (GG) in one patient, whereas two patients were heterozygous positive (CG ). This a ssociat io n has not been well-described so far and w arrants f ur ther inve s tigation. There may be some common predisposing factors.


Assuntos
Hepatopatia Gordurosa não Alcoólica , Paniculite Peritoneal , Humanos , Paniculite Peritoneal/complicações , Paniculite Peritoneal/diagnóstico , Masculino , Feminino , Adulto , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/genética , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Lipase/genética , Lipase/sangue , Proteínas de Membrana/genética , Dor Abdominal/etiologia , Aciltransferases , Fosfolipases A2 Independentes de Cálcio
16.
Actas Dermosifiliogr ; 2024 Jul 18.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-39032781

RESUMO

BACKGROUND: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed. OBJECTIVES: The aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP. MATERIALS AND METHODS: We studied a total of 10 SPTCL and 10 LEP patients using targeted next-generation sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained. RESULTS: The mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes. CONCLUSIONS: The mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.

17.
Clin Immunol ; 255: 109732, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37562721

RESUMO

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous non-Hodgkin lymphoma involving CD8+ T cells, the genetic underpinnings of which remain incompletely understood. Here we report two unrelated patients with B cell Expansion with NF-κB and T cell Anergy (BENTA) disease and a novel presentation of SPTCL. Patient 1 presented early in life with recurrent infections and B cell lymphocytosis, linked to a novel gain-of-function (GOF) CARD11 mutation (p.Lys238del). He developed SPTCL-like lesions and membranoproliferative glomerulonephritis by age 2, treated successfully with cyclosporine. Patient 2 presented at 13 months with splenomegaly, lymphadenopathy, and SPTCL with evidence of hemophagocytic lymphohistiocytosis. Genetic analysis revealed two in cis germline GOF CARD11 variants (p.Glu121Asp/p.Gly126Ser). Autologous bone marrow transplant resulted in SPTCL remission despite persistent B cell lymphocytosis. These cases illuminate an unusual pathological manifestation for BENTA disease, suggesting that CARD11 GOF mutations can manifest in cutaneous CD4+and CD8+ T cell malignancies.


Assuntos
Síndromes de Imunodeficiência , Linfocitose , Linfoma de Células T , Paniculite , Masculino , Humanos , Pré-Escolar , Linfócitos T CD8-Positivos/patologia , Paniculite/genética , Paniculite/patologia , Paniculite/terapia , Linfoma de Células T/genética , Linfoma de Células T/terapia
18.
Acta Haematol ; 146(1): 82-87, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36380606

RESUMO

Extraintestinal manifestations of celiac disease (CD) are an integral part of the disease's clinical profile and, frequently, appear as the presenting feature. Given that anemia in CD may be multifactorial, increased awareness is needed on the part of treating physicians, and especially hematologists, to screen for CD. In this study, we highlight anemia as the presenting feature of CD which has remained undiagnosed for several years. In patients with a positive antibody testing or high suspicion of CD, endoscopy with a biopsy of the small intestine is performed, as it is considered the "gold standard" for diagnosing CD. Since most of the manifestations of CD are preventable or treatable with a gluten-free diet, an early diagnosis is vital for the prevention of serious and potentially lethal complications.


Assuntos
Anemia , Doença Celíaca , Humanos , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Anemia/diagnóstico , Anemia/etiologia , Biópsia , Dieta Livre de Glúten
19.
J Cutan Pathol ; 50(11): 983-990, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37605438

RESUMO

BACKGROUND: Pancreatic panniculitis is a rare form of panniculitis generally associated with acute or chronic pancreatitis, and less frequently with pancreatic carcinoma. Clinically, it presents with subcutaneous nodules usually located in the lower extremities, however, it presents an almost pathognomonic histopathological finding with enzymatic fat necrosis in the adipose tissue. METHODS: In this retrospective case series of five hospitals, biopsy specimens of cutaneous lesions of pancreatic panniculitis were reviewed. Clinical information was obtained through medical records. RESULTS: A total of 34 cases were included, 23 women and 11 men, aged between 31 and 92 years. The most common associated pancreatic disease was acute pancreatitis (23 cases) and its main triggering cause was gallstones (17 cases). In two patients it was related to chronic pancreatitis and six cases were associated with malignancy. Histopathological findings were always the key to diagnosis. In the biopsies reviewed, mostly lobular panniculitis with the characteristic necrosis of the adipocytes was observed. In addition, nine of the cases presented with Splendore-Hoeppli phenomenon. CONCLUSIONS: We present the largest series of pancreatic panniculitis. Clinically, the female predominance and biliary lithiasis as the main cause of acute pancreatitis are to be emphasized. Histopathologically, a peripheral eosinophilic striated rim surrounding aggregates of ghost adipocytes consistent with Splendore-Hoeppli is an additional clue to its diagnosis.

20.
Lasers Surg Med ; 55(1): 126-134, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35819225

RESUMO

BACKGROUND: Cryolipolysis is a noninvasive method of destroying adipocytes using controlled cooling, thereby enabling localized and targeted fat reduction. Due to their greater vulnerability to cold injury, adipocytes are selectively targeted, while other cell types are spared. OBJECTIVES: This study aims to develop a mouse model of cryolipolysis to offer a reliable and convenient alternative to human models, providing a methodology to validate clinical hypotheses in-depth with relative ease, low cost, and efficiency. This further facilitates comprehensive studies of the molecular mechanisms involved in cryolipolysis. MATERIALS AND METHODS: Mice (C57BL/6J) were placed under general anesthesia and were treated using our custom, miniaturized cryolipolysis system. A thermoelectric cooling probe was applied to the inguinal (ING) area for either a cold exposure of -10°C, or for a room temperature exposure for 10 minutes. The thickness of the subcutaneous fat of the mice was quantified using an optical coherence tomography (OCT) imaging system before and after the treatment. Histological analyses were performed before and after cryolipolysis at multiple time points. RESULTS: OCT analysis showed that mice that underwent cold cryolipolysis treatment induced a significantly greater reduction of subcutaneous fat thickness 1 month after treatment than the control mice. The mice that received cold treatment had no skin injuries. The selective damage of adipocytes stimulated cold panniculitis that was characterized histologically by infiltration of immune cells 2 and 3 days after treatment. CONCLUSION: This study shows that cryolipolysis performed in mice yields reproducible and measurable subcutaneous fat reduction, consistent with previous studies conducted in humans and pigs. Future studies can utilize the model of selective cryolipolysis developed by our group to further elucidate the cellular and molecular mechanisms of fat cell loss and improve clinical outcomes in humans.


Assuntos
Criocirurgia , Lipectomia , Humanos , Animais , Suínos , Camundongos , Lipectomia/métodos , Camundongos Endogâmicos C57BL , Crioterapia/métodos , Criocirurgia/métodos , Gordura Subcutânea/cirurgia , Modelos Animais de Doenças , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA