RESUMEN
A 56-year-old male was treated by local surgery in 1968 and 2005 for a left thigh lesion. A 2nd local relapse occurred in 2015 and was treated by complete macroscopic surgery with histology concluding to a hidradenocarcinoma. A 3rd locoregional relapse occurred in October 2018, with the presence of inflammatory ulcerated lesions. A 2nd histology and immunohistochemistry exam showed a proliferation positive for CK, CK5, and p63 suggesting the diagnosis of hidradenocarcinoma. The patient was treated by 3 lines of chemotherapy, 1st by Adriamycin, 2nd by carboplatin-paclitaxel, and then 3rd by oral capecitabine, leading to a stable clinical disease but without a clinical benefit. A locoregional plus metastatic lung progression was observed in March 2019, with the presence of lung nodules and retroperitoneal lymph nodes, multiple skin left thigh and left inguinal ulcerated lesions. The patient received then in 4th line in April 2019 oral sunitinib at 50 mg daily, with 4 weeks therapy/2 weeks pause. Side effects were represented by mucositis, anorexia, weight loss, and fatigue. We observed since the 1st week of therapy a fast response, with a decrease of the ulcerated lesions, a skin loss, and deep hemorrhagic areas. CT-scan showed after 2 weeks of sunitinib an objective response on both locoregional and metastatic lesions.
RESUMEN
Epithelial-lined or true cysts of the adrenal gland are exceedingly rare accounting for only 9% of all adrenal cysts. A 55-year-old woman with a medical history for cholecystectomy and liver hydatidosis presented with an 8-month history of abdominal pain in the upper left quadrant. Physical examination was unremarkable and laboratory tests were within normal range. Computed tomography displayed a homogeneous and finely calcified cystic mass of the left adrenal gland measuring 12 x 10 cm. A hydatid cyst of the adrenal gland was suspected preoperatively and the patient underwent uneventful excision of the cyst. Histological examination of the surgical specimen revealed that the cyst wall was lined by cuboidal to flattened cells with bland cytologic features. Immuohistochemically, the cyst lining expressed intensely cytokeratin but was negative for CD 34 and calretinin. The final pathological diagnosis was epithelial adrenal cyst.
Asunto(s)
Enfermedades de las Glándulas Suprarrenales/patología , Quistes/patología , Células Epiteliales/patología , Biopsia , Femenino , Humanos , Persona de Mediana EdadRESUMEN
Idiopathic granulomatous mastitis is a rare inflammatory breast disease of unknown aetiology that is frequently mistaken for breast carcinoma both clinically and mammographically. In this paper, the authors report two cases of idiopathic granulomatous mastitis that occurred in two parous women aged 38 and 45 years. Clinically, both patients presented with a tender palpable lump in the left breast. Mammography showed an poorly-defined mass in both patients with microcalcification in the first case and skin retraction in the second case. Breast lumpectomy was performed in both patients. Histological examination of the surgical specimen revealed non-caseating granulomas confined to breast lobules. Special staining for fungi and tuberculosis were all negative. Correct diagnosis ofidiopathic granulomatous mastitis requires the exclusion of malignancy, other granulomatous disease and infectious aetiologies. Histopathologic examination remains the gold standard for diagnosis. This disease is rare, and therefore the optimum treatment protocol is still being established.
Asunto(s)
Neoplasias de la Mama/diagnóstico , Mama/patología , Mastitis Granulomatosa/diagnóstico , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana EdadRESUMEN
The gallbladder is an unusual location of pancreatic heterotopia defined as the presence of pancreatic tissue lacking anatomical and vascular continuity with the main body of the gland. A 55-year-old previously healthy male patient presented with repeated attacks of right hypochondriac pain and vomiting. On physical examination, the right upper abdomen was tender to palpation with a positive Murphy's sign. Abdominal ultrasonographic examination showed multiple gallstones within a thin-walled gallbladder. Laparoscopic cholecystectomy was performed with uneventful recovery. Macroscopic examination of the surgical specimen revealed a yellowish intramural nodule measuring 7 mm close to the neck of the gallbladder. Histological examination revealed chronic cholecystitis and subserosal foci of heterotopic pancreas made up of exocrine acinar and ductal elements without islet cells corresponding to incomplete heterotopia. Heterotopic pancreas is usually detected as an incidental microscopic finding in a gallbladder specimen removed by cholecystectomy. Pre-operative diagnosis is difficult primarily due to its non-specific clinical features.
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Colecistitis/patología , Coristoma/patología , Vesícula Biliar/patología , Páncreas , Humanos , Hallazgos Incidentales , Masculino , Persona de Mediana EdadRESUMEN
Solitary Peutz-Jeghers-type polyp is a rare hamartomatous polyp without associated mucocutaneous pigmentation or a family history of Peutz-Jeghers Syndrome. It is usually encountered in the small intestine, but rarely involves the rectum. A 27-year-old previously healthy female patient presented with a two-month history of rectal bleeding. The patient had neither mucocutaneous pigmentation nor a family history of gastro-intestinal polyposis. Endoscopic examination revealed a solitary lobular polypoid lesion in the lower rectum. The polyp was sessile and measured 15 cm in diameter. As histological examination of the biopsy specimen was suggestive of adenoma, endoscopic polypectomy was performed. Histologically, this polyp had an arborizing muscular network originating from the muscularis mucosa, and was covered by well organized mucosa with several foci of dysplastic glands. The final pathological diagnosis was solitary Peutz-Jeghers type hamartomatous polyp with adenomatous transformation.
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Pólipos Adenomatosos/patología , Hamartoma/patología , Neoplasias del Recto/patología , Adulto , Transformación Celular Neoplásica/patología , Femenino , HumanosRESUMEN
INTRODUCTION: Congenital epulis, known as a congenital gingival granular cell tumor, is a benign tumor and very rare in newborns. Voluminous or multiple tumors can cause mechanical obstruction of the oral cavity and may result in postnatal feeding and respiratory problems. DISCUSSION: We report the clinical case of a female full-term newborn who presented a tumor on the upper gum obtruding into the oral cavity discovered at birth. The pregnancy was followed normally with three prenatal ultrasounds, which did not show abnormalities. The mass was excised under local anesthesia on the second day of life. The outcome was good after surgery and regular feedings were started on the second postoperative day. Histological examination confirmed the diagnosis of gingival tumor with granular cells and absence of signs of malignancy. CONCLUSION: Prenatal diagnosis is fundamental in the therapeutic approach to this rare lesion but remains difficult because the findings are non specific and the generally late development of the tumor.
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Neoplasias Gingivales/congénito , Tumor de Células Granulares/congénito , Femenino , Neoplasias Gingivales/complicaciones , Neoplasias Gingivales/cirugía , Tumor de Células Granulares/complicaciones , Tumor de Células Granulares/cirugía , Humanos , Recién NacidoRESUMEN
INTRODUCTION: Fibrous dysplasia or Jaffe Lischtenstein's disease is sporadic and rare bone affection, mainly observed in young adults. It is characterized by a bone maturation disorder that can affect one or several bones. Fibrous dysplasia is relatively rare in the craniofacial region, (only 20% of all locations). The authors analyzed the epidemiological, anatomoclinical and evolutive features of fibrous dysplasia in a Tunisian population. MATERIAL AND METHOD: The authors retrospectively studied 18 cases of craniofacial fibrous dysplasia, diagnosed at the pathology department of the Sousse F. Hached hospital, beween1990 and 2005. RESULTS: Most craniofacial dysplasia cases were monostotic (94% of cases). One case was polyostotic. The maxilla and the mandible were the most frequent locations (83.3%). The patients' mean age was 28.6 years, ranging from 6 to 30 years. The sex ratio was 3.5 in favor of women. Follow-up ranged from one month to 10 years with an average of 26.4 months. One case of sarcomatous transformation was observed. DISCUSSION: The authors noted epidemiological discrepancies compared to what was usually reported, especially concerning the strong female predominance, the frequency of maxillary and mandibular locations and the predominance of monostotic presentations. Larger series are needed to validate these observations.
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Huesos Faciales/patología , Displasia Fibrosa Monostótica/epidemiología , Adolescente , Adulto , Factores de Edad , Transformación Celular Neoplásica/patología , Niño , Estudios Epidemiológicos , Femenino , Estudios de Seguimiento , Humanos , Masculino , Enfermedades Mandibulares/epidemiología , Enfermedades Maxilares/epidemiología , Osteosarcoma/patología , Estudios Retrospectivos , Factores Sexuales , Neoplasias Craneales/patología , Túnez/epidemiología , Adulto JovenRESUMEN
BACKGROUND: Alveolar soft part sarcoma is rare; it mainly appears in the lower extremities in adults and the head and neck in children. Primary pulmonary occurrence of this tumour is exceptional. OBSERVATION: We report a new case in a 49-year-old man who presented with thoracic pain developing over one month. Imaging showed a tumour in the left upper lobe. Diagnosis of primary alveolar sarcoma of the lung was made by histological examination of a biopsy specimen and elimination of a primary soft tissue tumour elsewhere. CONCLUSION: Primary alveolar sarcoma of the lung is exceptionally rare and the diagnosis should only be made after eliminating a soft tissue tumour elsewhere.
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Neoplasias Pulmonares/patología , Sarcoma de Parte Blanda Alveolar/patología , Dolor en el Pecho/etiología , Humanos , Masculino , Persona de Mediana EdadRESUMEN
The aim of the present study was to determine whether there is an association between Parvovirus B19 infection and hydrops fetalis setting in fetus and neonate. Twenty-nine samples were analyzed by three methods. Each sample was histologically examined for viral nuclear inclusions in fetal organs and placenta, then immunohistochemical study using Parvovirus B19 antibody that recognized the VP2 protein of the Parvovirus B19 capsid was done in tissue embedded in paraffin (lungs, liver, thymus, kidneys, heart and placenta). Nested-PCR analysis was done after DNA extraction from paraffin blocks and using specific primers of the Parvovirus B19 VP1 gene. Apparent causes of hydrops were eliminated such as metabolic diseases, cardiac failure or malformation. The standard histological study objects viral inclusion in one case (lung tissue). However, the immunohistochemical study was negative in all cases. Nested-PCR demonstrates the presence of the viral DNA in five cases. Our study demonstrates that the implication of Parvovirus B19 in hydrops fetalis must be affirmed by the use of more than one method. Nested-PCR is the most sensitive method in our study and can be easily used for the detection of Parvovirus B19 in formalin-fixed paraffin-embedded tissues.
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Feto/virología , Hidropesía Fetal/virología , Parvovirus B19 Humano/aislamiento & purificación , Placenta/virología , Adulto , Femenino , Formaldehído , Edad Gestacional , Humanos , Inmunohistoquímica , Recién Nacido , Hígado/embriología , Hígado/virología , Pulmón/embriología , Pulmón/virología , Parvovirus B19 Humano/genética , Reacción en Cadena de la Polimerasa , Embarazo , Estudios Retrospectivos , Timo/embriología , Timo/virología , Adulto JovenRESUMEN
AIMS OF THE STUDY: The aim of this study was to investigate whether the Simian Virus 40 (SV40) is implicated in human breast carcinomas (BC). EXPERIMENTAL DESIGN: SV40 presence was investigated by PCR assays targeting the Tag, the regulatory, and the VP1 regions in 109 invasive breast ductal carcinomas from Tunisian women. We also examined the relationship between the presence of SV40 and promoter methylation status of 15 tumor-related genes. Immunohistochemistry was used to investigate the expression of Tag, estrogen and progesterone receptors, HER2, and P53. RESULTS: SV40 DNA sequences were detected in 22% of tumors and in only 1.8% of the matched non-tumoral tissues. Using immunohistochemistry, SV40 was detected in the tumor cells. Hypermethylation frequencies were 78% for RASSF1A, 66% for SHP1, 61% for HIN1 and BRCA1, 47% for P16 and ER, 42% for CDH1 and APC, 40% for BLU, 35% for DAPK, 34% for RARbeta2, 27% for GSTP1, 17% for TIMP3, 14% for CCND2, and 8% for hMLH1. Interestingly, the frequencies of RASSF1A, SHP1, BRCA1, and TIMP3 methylation, and the mean of the methylation index (MI) were significantly higher in SV40-positive than in SV40-negative cases (P-values ranging from 0.043 to 0.003). Moreover, SV40 presence correlates with P53 protein accumulation (32.7% vs. 13.3%; P=0.015) and HER2 low expression (3.7% vs. 28%; P=0.008). We also found SV40 more frequently in patients over 50 years than in younger patients (34.8% vs. 12.3%; P=0.006). CONCLUSIONS: This study is the first to demonstrate the presence of SV40 in human BC and provides data supporting a role for this virus in the pathogenesis of these tumors.
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Neoplasias de la Mama/virología , Virus 40 de los Simios/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Mapeo Cromosómico , Metilación de ADN , ADN de Neoplasias/genética , ADN Viral/aislamiento & purificación , Femenino , Genes BRCA1 , Humanos , Metástasis Linfática , Persona de Mediana Edad , Invasividad Neoplásica , Estadificación de Neoplasias , Reacción en Cadena de la Polimerasa , Virus 40 de los Simios/aislamiento & purificación , TúnezRESUMEN
Echinococcal involvement of the breast is extremely rare, even in the endemic countries. We report the case of a 31-year-old woman who presented with a 5 cm mammary mass. Mammography and sonography showed a well-circumscribed cystic lesion. Diagnosis of hydatid cyst was confirmed by pathological examination.
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Enfermedades de la Mama/diagnóstico , Enfermedades de la Mama/parasitología , Equinococosis/diagnóstico , Adulto , Femenino , HumanosRESUMEN
INTRODUCTION: Extra-nodal T lymphomas of the ear, nose, and throat (ENT) are unusual in Western countries, with differential diagnosis from other destructive and necrotizing lesions of the sino-nasal tract often difficult. MATERIAL AND METHODS: Eleven cases of extra-nodal lymphomas of the upper aerodigestive tract tract managed in the ENT department of F. Hached hospital in Sousse, Tunisia, were retrieved over a 10-year period (1995-2004). The aim of our study was to report the clinical and pathological data and the outcome for each patient. RESULTS: The median age of patients was 41-years. The most frequent site of involvement was the nasal cavity. Clinically, the symptoms were not specific. Histological examination identified two cases of T/NK lymphoma and nine cases of T-lymphoma not otherwise specified. Immunohistochemistry and in situ hybridization techniques positively detected Epstein-Barr virus in tumoral cells, in seven cases. Tumor staging, in 10 patients, found distant metastasis in three. Nine patients underwent the following treatment: exclusive radiotherapy (one patient), radiochemotherapy (three patients), and exclusive polychemotherapy (five patients). The two remaining patients had no treatment because of a rapidly unfavorable progression. After a median follow-up of 11-months, clinical outcome consisted in death in seven patients and remission in three patients; one patient was lost of follow-up. CONCLUSION: Extra-nodal lymphomas of the ORL tract are rare in Tunisia. Clinical presentation is not specific, depending on the lymphoma location. Diagnosis relies on clinical presentation and immunophenotypic and molecular characteristics; morphological features are not specific. These are aggressive lymphomas, often requiring multidisciplinary management.
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Linfoma de Células T , Cavidad Nasal , Neoplasias Nasales , Adulto , Anciano , Femenino , Humanos , Linfoma de Células T/diagnóstico , Linfoma de Células T/terapia , Masculino , Persona de Mediana Edad , Neoplasias Nasales/diagnóstico , Neoplasias Nasales/terapia , Neoplasias de los Senos Paranasales/diagnóstico , Neoplasias de los Senos Paranasales/terapia , Estudios RetrospectivosRESUMEN
Collision epithelial and stromal tumours of the stomach are uncommon, and only a few cases have been reported in the literature. We describe a new case of a 54-year-old man who presented with bloody emesis. An oesophagogastroduodenoscopy revealed a stomach induration, and preoperative histological diagnosis was signet ring carcinoma. Total gastrectomy was performed and histological examination revealed a gastric collision tumour composed of gastrointestinal stromal tumour intermixed with a primary signet ring carcinoma. The neoplastic cells of the gastrointestinal stromal tumour were diffusely positive for CD117, while the signet ring cells were positive for cytokeratin. There was no transition between the two components.
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Carcinoma/patología , Tumores del Estroma Gastrointestinal/patología , Neoplasias Primarias Múltiples/patología , Neoplasias Gástricas/patología , Humanos , Masculino , Persona de Mediana EdadRESUMEN
The involvement of a retrovirus homologous to the mouse mammary tumor virus (MMTV) in the pathogenesis of human breast cancer (BC) has long been assumed, but has never been proven. Previous studies have reported the detection of MMTV-like env sequences in variable proportions that did not exceed 40% of BC cases in several countries. However, these viral sequences have been found in higher proportion (74%) in Tunisian diagnosed with BC during the seventies. This study is an attempt to evaluate the current prevalence of MMTV-like env gene in BC in Tunisian women. We used semi-nested PCR that amplify a 190-bp MMTV-like env sequence, followed by direct sequencing to screen a series of 122 cases of BC randomly selected. The findings were correlated to clinicopathological data and immunohistochemical expression status of progesterone and oestrogen receptors, HER2, and P53. Specific MMTV-like env sequences were found in 17 (13.9%) cases of breast carcinomas, whereas the same sequences were not detected in matched normal breast tissues. The presence of the viral sequences correlates inversely with progesterone receptor expression (6.8% versus 20.3%; P=0.03) and HER2 overexpression (3.1% versus 17.7%; P=0.04). This present study confirms the presence of MMTV-like env sequences in BC in Tunisian women but describes an important decrease in the prevalence of the viral sequences compared with previous studies. This reduction may be due to some changes in the virological characteristics or exposure to the virus.
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Neoplasias de la Mama/epidemiología , Virus del Tumor Mamario del Ratón/aislamiento & purificación , Adulto , Secuencia de Bases , Neoplasias de la Mama/patología , Neoplasias de la Mama/virología , ADN Viral/genética , Femenino , Humanos , Persona de Mediana Edad , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Prevalencia , Homología de Secuencia de Ácido Nucleico , Túnez/epidemiologíaRESUMEN
BACKGROUND: Diffuse large B-cell lymphoma (DLBCL) exhibits heterogeneous clinical features and a marked variable response to treatment. PATIENTS AND METHODS: We investigated the prognostic significance of the methylation status of DAPK, GSTP1, P14, P15, P16, P33, RB1, SHP1, CDH1, APC, BLU, VHL, TIMP3, and RASSF1A genes in 46 DLBCL specimens from Tunisian patients. Methylation status of each gene was correlated with clinicopathological parameters including the International Prognostic Index (IPI), the germinal center immunophenotype, and response to treatment and survival. Overall survival (OS) and disease-free survival (DFS) rates were calculated by the Kaplan-Meier method and differences were compared with the log-rank test. RESULTS: Hypermethylation of SHP1 was associated with elevated lactate dehydrogenase level (P = 0.031). P16 and VHL were frequently hypermethylated in patients with high IPI scores (P = 0.006 and 0.004) and a performance status of two or more (P = 0.007 and 0.047). In addition, hypermethylation of P16 was significantly associated with advanced clinical stages and B symptoms (P = 0.041 and 0.012). Interestingly, hypermethylation of DAPK was significantly correlated with resistance to treatment (P = 0.023). With regard to survival rates, promoter hypermethylation of DAPK, P16, and VHL were significantly associated with shortened OS (P = 0.003, 0.001, and 0.017, respectively) and DFS (P = 0.006, 0.003, and 0.046, respectively). In multivariate analysis, hypermethylation of DAPK remains an independent prognostic factor in predicting shortened OS (P = 0.001) and DFS (P = 0.024), as well as the IPI and the germinal center status. CONCLUSIONS: This study demonstrates that DLBCLs with hypermethylated P16, VHL, DAPK, and SHP1 commonly show a biologically aggressive phenotype and worse prognosis. Interestingly, hypermethylation of DAPK was found to be an independent prognostic factor that may be used in conjunction with the conventional prognostic factors such as the IPI and the germinal center status.
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Islas de CpG , Metilación de ADN , Linfoma de Células B Grandes Difuso/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , ADN de Neoplasias/genética , Supervivencia sin Enfermedad , Femenino , Humanos , Linfoma de Células B Grandes Difuso/patología , Masculino , Persona de Mediana Edad , Regiones Promotoras GenéticasRESUMEN
OBJECTIVE: the purpose of our work is to detect Epstein-Barr virus (EBV) in 2 types of breast cancer: medullary carcinoma and high grade invasive ductal carcinoma with lymphoid stroma. PATIENTS AND METHODS: we proceeded to a retrospective study of 18 medullary carcinoma and 18 high grade invasive ductal carcinoma with lymphoid stroma. The detection of the virus was carried out by immunohistochemistry with anti-LMP2 antibody and by hybridization in situ by oligonucleotides EBER1 and EBER1. LMP1 as well as hybridization in situ were positive in 5 tumors (3 medullary carcinoma and 2 high grade invasive ductal carcinoma with lymphoid stroma). RESULTS: positivity was observed in tumor cells and neither in epithelial non tumoral ones nor in lymphoid cells. DISCUSSION AND CONCLUSIONS: during numerous years, correlations between the replication of EBV and the appearance of a malignant phenotype were limited to nasopharyngeal carcinoma and to lymphoid cells. A controversy regarding the association of EBV with breast cancers has recently been reported in the literature. This cancer being very frequent, the involvement of EBV even in a small proportion of breast cancers could have important implications. Our results suggest a possible implication of EBV in these tumours but other studies are necessary.
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Neoplasias de la Mama/patología , Neoplasias de la Mama/virología , Herpesvirus Humano 4/aislamiento & purificación , Metástasis Linfática , Carcinoma Medular/patología , Carcinoma Medular/virología , Femenino , Humanos , Inmunohistoquímica , Estudios RetrospectivosRESUMEN
Dysembryoplastic neuroepithelial tumour is an uncommon lesion of the brain characterised by a heterogeneous population of neurons, astrocytes and oligodendroglia-like cells. Most patients are young adults with a long history of drug-resistant seizures. We report a case of a 31 year-old woman with a history of severe epileptic attacks. Cerebral imaging showed a left temporal tumour measuring 4 cm in its greater dimension. After surgical intervention, histopathological examination showed a tumoural proliferation with both glial and neuronal components that was confirmed by immunohistochemistry. We also describe the spectrum of dysembryoplastic neuroepithelial tumours and their histological features.