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1.
Int J Surg Case Rep ; 121: 110007, 2024 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-38981293

RESUMO

INTRODUCTION AND IMPORTANCE: Placental non-trophoblastic tumors (PNTT) are uncommon, consisting mainly of chorangiomas, placental teratomas (PT) and haemangiomas. PT are exceedingly rare, with less than 40 cases reported in the literature. We, herein, present a case of mature PT arising within the membranes, and we aim to discuss the clinico-pathological characteristics of this rare entity. CASE PRESENTATION: A 30-year-old female patient, gravida 1, para 1, with no medical history, was admitted at 40 weeks' gestational age. Ultrasound in the third trimester of pregnancy revealed agenesis of the left fetal kidney and a fundal placenta with increased uterine artery resistance. A cesarean section was performed for failure of labor's induction. Gross examination of the placenta revealed a solid polypoid mass, measuring 4 × 2 cm, attached to the membranes and covered by a smooth cutaneous coating. The cut surface was soft, yellowish, and focally heterogenous, with areas of adipose tissue and cartilage. Microscopic examination revealed that the mass was made up of a mature keratinized squamous layer, with skin appendages, adipose and cartilaginous tissues. The diagnosis of PT was established. CLINICAL DISCUSSION: PT are rarely suspected on prenatal ultrasonography and the diagnosis is made after delivery. Only pathological examination allows the diagnosis of certainty. Their histogenesis is still poorly understood. CONCLUSION: We presented a rare case of mature PT arising within the membranes. PT are extremely uncommon tumors. Usually, they are benign, and no fetal or maternal complications. A better knowledge of these uncommon tumors is mandatory to not miss the diagnosis.

2.
Ann Hum Genet ; 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38661458

RESUMO

INTRODUCTION: The progression of prostate cancer (PCa) has been linked worldwide, including in African populations, to the dysregulation of the epithelial-mesenchymal transition (EMT). METHODS: To clarify the connection among EMT markers, clinicopathological parameters, and epidemiological factors, we analyzed 35 PCa specimens from patients in Tunisia, a country in North Africa, arranged by stages. We also carried out extensive molecular and epidemiological analyses. RESULTS: Significant dysregulation of EMT genes was found, with an overexpression of ZEB-1, Twist, Snail-1, and Vimentin (p < 0.05) and underexpression of E-cadherin and ß-catenin (p < 0.05). Positive correlations were observed between transcription factors and the mesenchymal marker Vimentin (p < 0.001, r = 0.574; p = 0.029, r = 0.411; and p < 0.001; r = 0.506) according to Spearman correlation analyses, whereas negative correlations were found between epithelial markers (E-cadherin, ß-catenin) and Vimentin (p < 0.05; r < 0). Higher PSA, Gleason scores, and metastasis were all correlated with the dysregulation of EMT (p < 0.05). Notably, there was a positive correlation between higher consumption of tobacco (≥20 Packets per year) and Vimentin expression (p < 0.001, r = 0.854), suggesting a relationship between smoking and EMT activation in the Tunisian population. Moreover, Twist showed a positive correlation with diabetes (p < 0.001, r = 0.385), whereas no significant correlations were found between EMT markers and comorbidities such as hypertension and coronary insufficiency. These results demonstrate the intricate connection between molecular changes, epidemiological factors, and disease progression, and they emphasize the crucial role that EMT plays in promoting PCa aggressiveness in African populations, particularly in Tunisia. CONCLUSION: In summary, understanding these correlations could help develop focused treatment plans and enhance patient outcomes for PCa management in African settings.

3.
3 Biotech ; 14(4): 106, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38476644

RESUMO

Currently, clinical biomarkers are urgently needed to improve patient management to guide personal therapy for cancer. In this study, we investigate the deregulation of Zeb-1 in prostate cancer (PC) Tunisian patients. Expression patterns of the Zeb-1 were investigated in prostate adenocarcinoma and benign prostate biopsies using quantitative real-time reverse transcription-polymerase chain reaction (RT-qPCR) and 2-ΔΔCt method. Statistical analysis was used to identify differences across groups depending on gene expression level. Furthermore, we exploited a follow-up over 15 years to correlate Zeb-1 deregulation and clinical outcomes in PC patients. Based on ROC curve analyses, the AUC was found in discriminating PC patients from controls (AUC = 0.757; p < 0.001). In addition, the higher expression level was significantly associated with PSA, Digital Rectal Examination, Gleason score, tumor stage, and distant lymph node metastases. Moreover, Zeb-1 overexpression was correlated with shorter overall survival (OS) (p = 0.042), poor progression-free survival (PFS) (p = 0.007), and with resistance to taxanes (p = 0.012). Our data provide the aberrant expression of Zeb-1 in PC patients suggesting its potential diagnostic, prognostic, and theranostic role. Further functional studies are mandatory to strengthen these results and to uncover the molecular mechanism of this neoplasm. Supplementary Information: The online version contains supplementary material available at 10.1007/s13205-024-03941-8.

4.
Mol Biol Rep ; 51(1): 226, 2024 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-38281235

RESUMO

BACKGROUND: Prostate cancer (PCa) remains one of the most complex tumors in men. The assessment of gene expression is expected to have a profound impact on cancer diagnosis, prognosis, and treatment decisions. The aim of this study was to determine the utility of the epithelial-mesenchymal transition (EMT) transcription factors Twist and Snai1 in the treatment of naïve prostate cancer. METHODS AND RESULTS: We analyzed formalin-fixed paraffin-embedded (FFPE) prostate tissues from 108 PCa patients and 20 control biopsies using real-time quantitative reverse transcription-polymerase chain reaction (RT-qPCR) and 2-ΔΔCt methods for Twist and Snail gene expression. The expression of Twist and Snai1 mRNA was significantly overexpressed in primary tissues of PCa patients compared with controls using ROC curve. Statistical analysis showed that the mRNAs of these two genes expression Snai1 and Twist were positively correlated with tumor development and prognostic parameters as Gleason score (p < 0.001; r = 0.707) and (p < 0.001; r = 0.627) respectively. The results of Kaplan-Meier analysis showed that mRNA expression of Snai1 and Twist genes expression were significant predictors of poor overall survival (OS) (Log rank p < 0.001) and progression-free survival (PFS) of patients (Log rank p < 0.001). Furthermore, our results showed that the expression of Snai1 and Twist genes expression in primary tissues of PCa patients could predict resistance to androgen deprivation therapy (p < 0.001) and resistance to the acidic drugs abiraterone or enzalutamide (p < 0.001). However, these two transcription factors failed to predict taxanes resistance at the time of diagnosis (p > 0.05). CONCLUSION: These results suggest that Snai1 and Twist are overexpressed during the onset and progression of PCa malignancies and may be theranostic markers of resistance to ADT, abiraterone, or enzalutamide therapy.


Assuntos
Benzamidas , Nitrilas , Feniltioidantoína , Neoplasias da Próstata , Fatores de Transcrição da Família Snail , Proteína 1 Relacionada a Twist , Humanos , Masculino , Antagonistas de Androgênios , Benzamidas/uso terapêutico , Biomarcadores Tumorais/genética , Nitrilas/uso terapêutico , Feniltioidantoína/uso terapêutico , Neoplasias da Próstata/tratamento farmacológico , Neoplasias da Próstata/genética , RNA Mensageiro/genética , Proteína 1 Relacionada a Twist/genética , Fatores de Transcrição da Família Snail/genética
5.
Genesis ; 62(1): e23543, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37649322

RESUMO

Although epithelial-mesenchymal markers play an important role in prostate cancer (PC), further research is needed to better understand their utility in diagnosis, cancer progression prevention, and treatment resistance prediction. Our study included 111 PC patients who underwent transurethral resection, as well as 16 healthy controls. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was used to examine the expression of E-cadherin, ß-catenin, and Vimentin. We found that E-cadherin and ß-catenin were underexpressed in primary PC tissues. E-cadherin expression was found to be inversely associated with prostate-specific antigen progression (PSA-P; serum marker of progression; p = 0.01; |r| = 0.262). Furthermore, the underexpression of two markers, E-cadherin and ß-catenin, was found to be associated with advanced tumor stage and grade (p < 0.05). On the other hand, Vimentin was overexpressed in PC patients with a fold change of 2.141, and it was associated with the diagnosis, prognosis, and prediction of treatment resistance to androgen deprivation therapy (p = 0.002), abiraterone-acid (p = 0.001), and taxanes (p = 0.029). Moreover, the current study highlighted that poor survival could be significantly found in patients who progressed after primary surgery, did not use drugs, and expressed these genes aberrantly. In Cox regression multivariate analysis (p < 0.05), a positive correlation between the Vimentin marker and coronary heart disease in PC patients was identified (p = 0.034). In summary, the present study highlights the diagnostic (p < 0.001), prognostic (p < 0.001), and therapeutic potential of Vimentin in primary PC (p < 0.05), as well as its implications for cardiovascular disease. Furthermore, we confirm the potential prognostic value of E-cadherin and ß-catenin.


Assuntos
Neoplasias da Próstata , beta Catenina , Masculino , Humanos , beta Catenina/genética , Vimentina/genética , Vimentina/análise , Vimentina/metabolismo , Antagonistas de Androgênios , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Neoplasias da Próstata/genética , Neoplasias da Próstata/metabolismo , Neoplasias da Próstata/patologia , Caderinas/genética , Transição Epitelial-Mesenquimal
6.
Microbiol Spectr ; 11(6): e0163823, 2023 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-37909771

RESUMO

IMPORTANCE: Cervical tuberculous lymphadenitis (CTL), the most frequent extrapulmonary form of tuberculosis, is currently a major health problem in Tunisia and in several regions around the world. CTL diagnosis is challenging mainly due to the paucibacillary nature of the disease and the potential misdiagnosis as cervical non-tuberculous lymphadenitis. This study demonstrates the added value of the heparin-binding hemagglutinin-interferon-gamma release assay as an immunoassay in the context of CTL.


Assuntos
Antineoplásicos , Mycobacterium tuberculosis , Tuberculose dos Linfonodos , Humanos , Testes de Liberação de Interferon-gama , Tuberculose dos Linfonodos/diagnóstico , Tunísia
7.
Front Oncol ; 13: 1195814, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37664053

RESUMO

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD.

8.
Clin Case Rep ; 11(6): e7463, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37305871

RESUMO

Key clinical message: We report the first case of pathologic complete response (pCR) to neoadjuvant imatinib in a gastric stromal tumor harboring KIT mutations in both exons 11 and 9. The significance of this co-occurrence is unknown and might increase the responsiveness of gastrointestinal stromal tumors (GISTs) to imatinib. Abstract: pCR of GIST to neoadjuvant imatinib is rare. We report a case of pCR to neoadjuvant imatinib in a gastric stromal tumor that harbored co-occurrence of multiple KIT mutations in exons 11 and 9. This co-occurrence in exons 9 and 11 is the first to be reported in the English literature.

9.
J Med Case Rep ; 17(1): 242, 2023 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-37312164

RESUMO

BACKGROUND: Lupus nephritis and lupus erythematosus tumidus (LET) are uncommon manifestations of systemic lupus erythematosus (SLE), and their coexistence as the initial presentation of SLE is exceedingly rare. Here, we report such a case, emphasizing the diagnostic challenges and therapeutic implications of this unusual association. CASE REPORT: A 38-year-old North African woman presented in Nephrology department with a history of lower extremity edema, fatigue, and weight loss of 3 kg in 4 weeks. Physical examination revealed LET lesions on the chest and the Neck. Laboratory investigations showed lymphopenia, low C3 and C4 complement levels, positive antinuclear antibodies, anti-dsDNA antibodies, and anti-SSA/Ro antibodies. Renal function tests showed normal serum creatinine and nephrotic proteinuria. Renal biopsy revealed Class V lupus nephritis. Skin biopsy confirmed the diagnosis of LET, with the presence of lymphohistiocytic infiltrates and dermal mucin. The patient was diagnosed with SLE based on the 2019 EULAR/ACR criteria and treated with prednisone (1 mg/kg/day) and hydroxychloroquine. She showed significant improvement in her cutaneous and renal symptoms at 6 and 12 months follow-up. CONCLUSION: The rarity of the coexistence of LET and lupus nephritis as the initial manifestation of SLE, especially in the North African population, underscores the need for further research to elucidate the immunopathogenic mechanisms and prognostic factors associated with this association.


Assuntos
Lúpus Eritematoso Discoide , Lúpus Eritematoso Sistêmico , Nefrite Lúpica , Adulto , Feminino , Humanos , Lúpus Eritematoso Discoide/complicações , Lúpus Eritematoso Discoide/diagnóstico , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Nefrite Lúpica/complicações , Nefrite Lúpica/diagnóstico
10.
PLoS One ; 18(5): e0285413, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37195967

RESUMO

BACKGROUND: The aim of this study was to analyze PIK3CA mutations in exons 9 and 20 in breast cancers (BCs) and their association with clinicopathological characteristics. METHODS: Mutational analysis of PIK3CA exon 9 and 20 was performed by Sanger sequencing in 54 primary BCs of Tunisian women. The associations of PIK3CA mutations with clinicopathological characteristics were analyzed. RESULTS: Fifteen exon 9 and exon 20 PIK3CA variants were identified in 33/54 cases (61%). PIK3CA mutations including pathogenic (class 5/Tier I) or likely pathogenic (class 4/Tier II) occurred in 24/54 cases (44%): 17/24 cases (71%) in exon 9, 5/24 cases (21%) in exon 20 and 2/24 cases (8%) in both exons. Of these 24 cases, 18 (75%) carried at least one of the three hot spot mutations: E545K (in 8 cases), H1047R (in 4 cases), E542K (in 3 cases), E545K/E542K (in one case), E545K/H1047R (in one case) and P539R/H1047R (in one case). Pathogenic PIK3CA mutations were associated with negative lymph node status (p = 0.027). Age distribution, histological SBR tumor grading, estrogen and progesterone receptors, human epidermal growth factor receptor 2, and molecular classification were not correlated with PIK3CA mutations (p > 0.05). CONCLUSION: The frequency of somatic PIK3CA mutations in BCs of Tunisian women is slightly higher than that of BCs of Caucasian women and more observed in exon 9 than in exon 20. PIK3CA mutated status is associated with negative lymph node status. These data need to be confirmed in larger series.


Assuntos
Neoplasias da Mama , Feminino , Humanos , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Classe I de Fosfatidilinositol 3-Quinases/genética , Mutação
11.
Cancer Rep (Hoboken) ; 6 Suppl 1: e1818, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37092543

RESUMO

BACKGROUND: Breast cancer (BC) is the most frequent malignancy among women in Tunisia and Algeria. Clinical and pathological characteristics of this cancer among these populations are not widely reported. The aim of the study was to report clinical and pathological characteristics of women's BC in a Tunisian and Algerian series. METHODS: Pathologically confirmed 1089 BCs were gathered in the pathology departments of three Northern Tunisian hospitals: Tunis military, Charles Nicolle and Jendouba and in the pathology department of Alger Douera hospital between January 2015 and December 2020. Clinical and pathological findings of the two series: age, tumor size, histological type, grading according to Scarff-Bloom Richardson grading system, lymph node status at the time of diagnosis in axillary lymphadenectomy specimens and the immunohistochemical expression of estrogen and progesterone receptors (ER/PR), HER2 and Ki-67, were collected from the pathological reports. RESULTS: The median age at diagnosis was 50 and 48 years in Tunisian and Algerian series, respectively (p = 0.016). The diagnosis of BC was made on surgical specimens (lumpectomy or mastectomy) in 373/491 (76%) cases of the Tunisian series and in 225/598 (37.6%) cases of the Algerian one. Median tumor size was 2.8 cm and 2.5 cm in Algerian and Tunisian series, respectively (p = 0.252). Invasive BCs not otherwise specified was observed in 440/481 (91.5%) BCs in Tunisian series and in 519/586 (88.6%) BCs in Algerian series. Axillary lymph node positive tumors were observed in 64.6% and 58.8% of Tunisian and Algerian women, respectively (p = 0.926). BCs were ER positive in 311/385 (80.8%) and 486/571 (85.1%) cases and HER2 positive in 86/283 (30.4%) and 60/385 (15.6%) cases of Tunisian and Algerian series, respectively. CONCLUSIONS: In Tunisia and Algeria, BC has poor prognostic factors with large tumor sizes and high rates of lymph nodes involvement at diagnosis.


Assuntos
Neoplasias da Mama , Humanos , Feminino , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Tunísia/epidemiologia , Argélia/epidemiologia , Prognóstico , Excisão de Linfonodo , Linfonodos/patologia , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Idoso , Idoso de 80 Anos ou mais
12.
Clin Rheumatol ; 42(1): 285-291, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36166102

RESUMO

Gitelman syndrome represents the clinical manifestations of inactivation of the Slc12a3 genes encoding the thiazide-sensitive sodium chloride cotransporter and the Trpm6-Mg genes encoding the magnesium transporters in the distal convoluted tubule. In fact, the biochemical findings resemble those with thiazide diuretics such as hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and low normal blood pressure. He is usually associated with calcium pyrophosphate deposition. Serum uricemia level is rarely affected in Gitelman syndrome. We aimed to report a rare association of chronic gout with Gitelman syndrome, hence the interest of our case. We describe a 29-year-old male patient with a history of Gitelman syndrome associated with articular gout including pelvic localization. We provided pictorial evidence of extensive and diffuse monosodium urate deposition in articular and periarticular structures to confirm the gout origin. A literature review illustrates 4 reported cases of Gitelman syndrome associated with gout. The gender distribution was equal with a mean age of 40 years.


Assuntos
Calcinose , Síndrome de Gitelman , Gota , Hipopotassemia , Masculino , Humanos , Adulto , Síndrome de Gitelman/complicações , Síndrome de Gitelman/genética , Hipopotassemia/complicações , Hipopotassemia/genética , Magnésio , Gota/complicações , Membro 3 da Família 12 de Carreador de Soluto
13.
Int J Surg Case Rep ; 98: 107510, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35985119

RESUMO

INTRODUCTION: Primary osseous Rosai-Dorfman disease (RDD) is a rare and benign disease that can pose diagnosis challenges. PRESENTATION OF THE CASE: We report the case of a 29-year-old woman who presented with pain in her left patellar region for the past 6 months with no other clinical sign especially no lymphadenopathy associated. A surgical excision was done. Histopathology confirmed the diagnosis of a primary RDD patellar disease. The patient was followed up for 2 months without any recurrence. The aim of this study was to present a rare case of RDD in a patellar location and to review clinicopathological features, therapeutic modalities, evolutionary aspects and prognosis of a primary patellar RDD. DISCUSSION AND CONCLUSION: The diagnosis of a primary osseous RDD without associated lymphadenopathy should be kept in mind when a sclero-lytic lesion is found. Excision of the lesion is the gold standard of the treatment.

14.
J Clin Lab Anal ; 36(9): e24606, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35853090

RESUMO

BACKGROUND: Several studies have interrogated the molecular pathways and their interacting genes underlying bladder cancer (BCa) tumorigenesis, yet, the role of homeobox genes is still poorly understood. Specifically, HOXA13, which plays an important role as a major actor in the urogenital tract's development. METHODS: Immunohistochemical (IHC) staining was performed to inspect the differential expression of HOXA13 protein in non-muscle-invasive bladder cancer (NMIBC) and non-tumoral tissues. A semiquantitative scoring system was adopted to evaluate the IHC labeling. Correlation to clinical parameters was performed by descriptive statistics. Overall survival was estimated by the Kaplan-Meier method and Cox regression model. The functional HOX A13 protein association networks (PPI) were obtained using String 11.0 database. RESULTS: HOX A13 exhibited cytoplasmic and nuclear staining. Its expression levels were lower in high-grade NMIBC (HG NMIBC) compared to low-grade ones (LG NMIBC). The expression of HOX A13 was correlated to tumor grade (LG/HG) (p = 0.036) and stage (TA/T1) (p = 0.036). Nevertheless, its expression was not correlated to clinical parameters and was not able to predict the overall survival of patients with HG NMIBC. Finally, PPI analysis revealed that HOX A13 seems to be a part of a molecular network holding mainly PBX1, MEIS, ALDH1A2, HOX A10, and HOX A11. CONCLUSION: The deregulation of HOX A13 is not associated with the prognosis of BCa. It seems to be rather implicated in the early initiation of urothelial tumorigenesis and thus may serve as a diagnostic marker in patients with NMIBC. Further experimentations on larger validation sets are mandatory.


Assuntos
Neoplasias da Bexiga Urinária , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Carcinogênese , Humanos , Invasividade Neoplásica , Prognóstico , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias da Bexiga Urinária/genética , Neoplasias da Bexiga Urinária/patologia
15.
J Forensic Sci ; 67(5): 2101-2105, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35686886

RESUMO

Cardiac echinococcosis is rare, and its clinical evolution is slow and asymptomatic until complications occur such as sudden death. Although more frequent in endemic countries, hydatid disease should be known by forensic specialists with regard to the migration flows of people from zones with high endemicity and who are likely to die from infection. We report an autopsy case of a 33-year-old male without any medical history who presented to the emergency room with shortness of breath, chest tightness, tingling all over the body and faintness without fever. He died suddenly before the medical examination. Autopsy showed no traumatic injuries or signs of violence. A cardiac 7 cm multivesicular hydatid cyst situated on the interventricular septum and the interatrial septum was observed. The cyst was ruptured with a massive hydatid pulmonary embolism. Hydatid cysts were also observed in the lungs. No signs of anaphylactic shock were found. The diagnosis of hydatid cyst was confirmed by histopathological examinations. Our case report highlights the mechanisms of occurrence of cardiac echinococcosis and hydatid pulmonary embolism as a complication, as well as the autopsy findings and the precautions needed by the forensic doctor.


Assuntos
Cistos , Equinococose , Ruptura Cardíaca , Embolia Pulmonar , Adulto , Cistos/complicações , Morte Súbita/etiologia , Equinococose/complicações , Equinococose/patologia , Humanos , Pulmão/patologia , Masculino , Embolia Pulmonar/etiologia
16.
J Surg Case Rep ; 2022(1): rjab621, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35070268

RESUMO

Liposarcoma of the spermatic cord (LSC) is a rare tumor with no consensus on therapeutic management. This study reports six new cases of LSC. The patients' age ranged from 56 to 80 years. All patients presented with a scrotal mass, and it was ultrasound that oriented the diagnosis. The initial treatment consisted of an inguinal orchiectomy. Anatomopathological study coupled with immunohistochemistry using the anti-MDM2 antibody confirmed that the tumors were well-differentiated LSC in four cases and dedifferentiated LSC in the other two cases. Adjuvant radiotherapy was performed in two patients. No recurrence was noted in these two patients at 14 and 34 months of follow-up. The only recurrence we had was local and occurred at 44 months of follow-up in a patient who had a dedifferentiated form ofLSC.

17.
Sarcoidosis Vasc Diffuse Lung Dis ; 39(3): e2022034, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36791047

RESUMO

Sarcoidosis is a multisystem disease of unknown origin. Diagnosis remains challenging, based on organ site involvement, histological confirmation of non-caseating granuloma and an appropriate clinical syndrome. Granulomatous bone involvement is rare and may be ignored because it is usually asymptomatic. Vertebrae, ribs and skull localizations are rarely reported. We described an interesting case of a woman with chronic and multiorgan sarcoidosis with unusual bone localizations.

18.
Int J Dermatol ; 60(12): 1497-1503, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34081329

RESUMO

BACKGROUND: Macrocheilia is an inflammatory disfiguring condition responsible for the swelling of the lips. This multi-etiological entity represents a diagnostic and therapeutic challenge. Published data on macrocheilia is scarce, often limited to granulomatous cheilitis. METHODS: We conducted a retrospective study, including all patients presenting with chronic macrocheilia (CM) for nineteen years. CM was defined as a persistent enlargement of one or both lips for at least eight weeks. Both descriptive and analytical analyses were performed. RESULTS: Of the 47 patients identified, 20 (43%) had cutaneous leishmaniasis, 10 (21%) had Miescher's cheilitis, five (11%) had Melkersson-Rosenthal syndrome, five (11%) had sarcoidosis, one (2%) had lepromatous leprosy, one (2%) had systemic amyloidosis, and one (2%) had Crohn's disease. In four cases, the CM was unlabeled. Ulcerations were significantly associated with leishmaniasis (P < 0.05). Histological study showed a granulomatous infiltrate in 72% of cases. Medical treatment was adapted to the etiology of CM. Surgery was performed in two cases. Improvement of CM secondary to leishmaniasis was seen in all cases. In patients with idiopathic orofacial granulomatosis, partial improvement was noted in four cases and a total improvement in one case. Recurrences were noted in three cases after complete regression. CONCLUSIONS: Macrocheilia is a rare and disfiguring condition that requires an etiological investigation, considering that it can reveal a serious underlying systemic disease. We identified several factors that could help recognize the cause of CM, including age, history of intermittent swelling, the extent of lip enlargement, the existence of ulceration, and systemic symptoms.


Assuntos
Doença de Crohn , Síndrome de Melkersson-Rosenthal , Doença de Crohn/complicações , Humanos , Lábio , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/epidemiologia , Recidiva Local de Neoplasia , Estudos Retrospectivos
19.
J Surg Case Rep ; 2021(5): rjab195, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34055288

RESUMO

Cancers of extra bladder origin represent between 2 and 12% of bladder neoplasms and are most often secondary to contiguous bladder invasion. Metastasis from distant organs is exceptional, especially from pulmonary adenocarcinoma with <10 cases identified over the last 20 years. We report here a new case of a 55-year-old patient with a recently diagnosed pulmonary adenocarcinoma referred to the urology department for macroscopic hematuria. Computed tomography scan showed, in addition to the lung mass of the right lower lobe with a right mediastinal adenopathy, a thickening of the right lateral bladder wall. Cystoscopy showed inflammatory lesions on the bladder mucosa, which biopsy with immunohistochemical examination revealed to be tumoral proliferation in the lamina propria realizing the same immunohistochemical profile of the primary lung tumor (CK7+/TTF1+/CK20-/PSA-). The patient was treated with palliative platinum-based chemotherapy and unfortunately died 5 months after diagnosis.

20.
Forensic Sci Med Pathol ; 17(2): 308-311, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33492632

RESUMO

Intramyocardial cartilage has never been reported in the human heart before. In the literature, the only reported localizations of cartilage in the heart were in the central fibrous body and the valves. We report a case of an unusual presence of cartilage tissue within the myocardial wall of the left ventricle in a 10-year-old boy who died unexpectedly. This case presents an interesting, unusual and apparently asymptomatic sudden cardiac death related to a cartilaginous myocardial tumor. Conducting system disturbance secondary to the myocardial tumor is the probable cause of death. This case is relevant not only for its singularity and originality, but also for the diverse and controversial hypotheses related to the onset of cartilaginous tissue in the myocardial wall. Early detection of this tumor by modern thoracic imaging may have prevented a fatal unexpected outcome.


Assuntos
Neoplasias Cardíacas , Miocárdio , Criança , Morte Súbita Cardíaca/etiologia , Evolução Fatal , Coração , Ventrículos do Coração/diagnóstico por imagem , Humanos , Masculino
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