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BACKGROUND: Gastrointestinal stromal tumors (GIST) are the most common primary mesenchymal tumors of the digestive system. The assessment of their biological behavior still remains a scientific challenge. To date, there are no well-established biological prognostic markers of GIST. Our aim is to study the expression of the MDM2 oncoprotein in GIST through an immunohistochemical analysis. METHODS: It was a retrospective study of 35 cases of GIST diagnosed from 2009 to 2012 in the department of pathology of Hassan II university hospital, Fès, Morocco. MDM2 immunohistochemical staining was performed on archival paraffin-embedded and formalin-fixed specimens (with a threshold of nuclear positivity > 10%). Analysis of correlations between MDM2 immunoexpression and clinicopathological features of GIST has been performed. RESULTS: The mean age was 55.23 years (range 25-84 years) with a male predominance (sex ratio = 1.5). The stomach was the main site of GIST, with 17 cases (48.57%) followed by the small bowel (9 cases, 25.71%). The spindle cell type GIST was the most frequent morphological variant (29 cases, 82.85%). Tumor necrosis was present in 8 cases (22.85%). Two patients (5.71%) had very low risk GIST, 5 (14.28%) had low risk GIST, 7 patients (20%) had intermediate risk tumors. The remaining 21 cases (60%) had high risk GIST. At the time of diagnosis, 9 patients (25.71%) had metastatic tumors. At immunohistochemical analysis, 40% of cases (14 patients) stained positive for MDM2. Of these MDMD2-positive tumors, 11/14 (78.57%) had high risk tumors and 8/14 cases (57.14%) presented with metastatic GIST. MDM2 positivity was significantly associated with the metastatic status (p = 0.001). CONCLUSION: The current study suggests that MDM2 immunohistochemical expression is a negative histoprognostic factor in GIST with a statistically significant correlation with metastasis.
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BACKGROUND: The coexistence of Rosai-Dorfman disease (RDD) with Langerhans cell histiocytosis (LCH) is very rare, as to date only 17 cases have been reported in the english literature. The pathophysiology of this uncommon co-occurrence still remains enigmatic and a subject of various speculations. CASE PRESENTATION: We report a case of a 30-year-old female patient who presented with a pathologic fracture of the left proximal femur. Her medical history was unremarkable, there were no fever, skin lesions, lymphadenopathy or other organomegaly at physical examination. X-ray radiograph of the fractured femur showed an isolated and ill-defined osteolytic lesion. The histopathological analysis of biopsies from this lesion were consistent with a combined RDD-LCH of the bone. CONCLUSION: Combined RDD-LCH is a very rare phenomenon, whose pathophysiology still remains unclear and a subject of various speculations.
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BACKGROUND: Endometrial stromal sarcoma (ESS) is a rare neoplasm accounting for only 0.2% of female genital tract tumors. The primary extra-uterine location of ESS is an extremely uncommon occurrence. CASE PRESENTATION: We present a case of a 64-year-old woman presenting with abdominopelvic and bilateral ovarian tumors with misleading clinical presentation and diagnostic challenge. The histopathological examination of the resected specimens disclosed the diagnosis of primary extra-uterine ESS arising from ovarian endometriosis. Adjuvant therapy with an aromatase inhibitor drug was prescribed for the patient, and she is still alive with no evidence of disease 7 months after surgery. CONCLUSION: The awareness of the potential extra-uterine location of ESS should lead to correct diagnosis as this tumor has histopathological features and clinical behavior similar to its uterine counterpart.
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Female genital tuberculosis (FGTB) is a rare form of tuberculosis (TB) affecting women of reproductive age. The clinical presentation is often misleading. We retrospectively collected cases of female genital tuberculosis (FGTB) diagnosed from 2006 to 2016 at our pathology department. The mean age was 39.92 years (range of 18-74 years). Most patients had reproductive age, with 30.76% postmenopausal women. Seven cases (53.84%) were addressed for histopathological analysis for clinical malignant suspicion. The diagnosis was made on eight surgical specimens (61.53%). Nine patients (69.23%) had multifocal TB. The most involved genital organs were fallopian tubes (63.84%), followed by ovaries (46.15%), endometrium (38.46%) and the cervix (23.07%). The macroscopic aspects of all resected specimens did not show the classic appearance of caseous necrosis. We found that most patients with genital tuberculosis present with clinical suspicion of malignancy leading to aggressive surgical management.
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BACKGROUND: Sclerosing angiomatoid nodular transformation of the spleen is a very rare benign vascular lesion recently described. Usually, sclerosing angiomatoid nodular transformation of the spleen is an incidental finding; the association with malignant tumors is extremely rare. To the best of our knowledge, we report the first case of sclerosing angiomatoid nodular transformation of the spleen associated with uterine clear cell carcinoma. CASE PRESENTATION: A 49-year-old Arabic woman presented to our institute with abdominal pain and distention. An abdominal computed tomographic scan was obtained, which showed a 14-cm uterine malignant tumor and a 4-cm isolated splenic nodule suggesting a metastatic lesion. The tumor was limited to the uterus but did not extend beyond. The patient underwent surgical treatment, and the histopathological examination of the resected uterine and splenic specimens disclosed invasive uterine clear cell carcinoma and sclerosing angiomatoid nodular transformation of the spleen, respectively. The patient had no signs of the disease 17 months after surgical treatment. CONCLUSIONS: Sclerosing angiomatoid nodular transformation of the spleen is a very rare benign disease with a misleading presentation when associated with a malignant tumor. Pathological assessment of the resected spleen is the only way to achieve the correct diagnosis.
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Adenocarcinoma de Células Claras/patologia , Histiocitoma Fibroso Benigno/diagnóstico , Baço/patologia , Neoplasias Esplênicas/patologia , Neoplasias Uterinas/patologia , Dor Abdominal , Adenocarcinoma de Células Claras/diagnóstico por imagem , Adenocarcinoma de Células Claras/cirurgia , Feminino , Histiocitoma Fibroso Benigno/cirurgia , Humanos , Histerectomia , Excisão de Linfonodo , Pessoa de Meia-Idade , Esplenectomia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/cirurgiaRESUMO
BACKGROUND: A subset of breast carcinomas harbors overexpression of the human epidermal growth factor receptor 2 (HER2). Fluorescence in situ hybridization (FISH) should be performed in breast carcinomas with equivocal HER2 immunostaining (immunohistochemistry [IHC] HER2 2+). The aim of our study is to investigate clinicopathologic factors associated with HER2 status in breast invasive carcinomas with IHC HER2 2+ through FISH analysis. METHODS: This is a retrospective study including the FISH analysis of 111 patients with invasive breast carcinomas with equivocal HER2 immunostaining. RESULTS: The mean age was 49.51 ± 10.48 years, and invasive breast carcinoma of no special type was the most histological type in our study (96.4%). Most patients had tumors positive for hormones receptors (88.2% positive for estrogen receptor and 81.4% for progesterone receptor). On FISH, the HER2 amplification rate was 22.5%. There was no significant association of HER2 status with any clinicopathologic factors ( P > .05). CONCLUSIONS: Our study shows that there are no reliable clinicopathologic factors to predict the HER2 status in breast tumors with equivocal HER2 immunostaining, supporting the necessary usage of FISH in such circumstances.
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Biomarcadores Tumorais/análise , Neoplasias da Mama/genética , Carcinoma Ductal de Mama/genética , Hibridização in Situ Fluorescente/métodos , Receptor ErbB-2/genética , Adulto , Idoso , Biomarcadores Tumorais/genética , Feminino , Genes erbB-2 , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Receptor ErbB-2/biossíntese , Estudos RetrospectivosRESUMO
BACKGROUND: Phyllodes tumors (PT) are uncommon biphasic tumors, accounting for less than 1% of all breast primary neoplasms. They form a wide variety of tumors ranging from benign to malignant. Several histological features are used to grade PT into 3 categories: benign (grade I), borderline (grade II) and malignant (grade III) tumors. The aim of our study was to analyse histolopathological, radiological and clinical features of PT from an experience of a single center. METHODS: It was a retrospective study including 106 patients diagnosed with phyllodes tumors on surgical specimens at the department of pathology, of Hassan II university hospital (Fez, Morocco), from 2009 to 2016. RESULTS: The mean age was 33.81 years (range of 13-66 years), and the mean age increases with the tumor grade (mean ages of 32.32, 32.87 and 33.65 years respectively for grade I, II and III PT) (p = 0.023); 78 patients (73.58%) had benign PT, 20 (18.86%) had borderline PT and 8 (7.54%) patients were diagnosed with malignant PT. Mostly, the tumor size was <5 cm (63.2%), with BI-RADS 3 (51 patients, 48.11%). The tumor size and the radiological suspicion (ACR/BI-RADS) increased with the tumor grade (p < 0.001). Mitosis count, cellular atypia and stromal cellularity increased with the tumor grade (p < 0.001). Also, the presence of necrosis is associated with malignant PT (p < 0.001). Before surgery, patients had undergone core needle biopsies (CNB) for diagnostic purpose, and the overral sensitivity of this diagnostic procedure was 71.83%. The sentivity of the CNB decreased from grade I PT to grade III PT (from 56.81% to 37.5%), however its specificity increased from grade I to grade III PT (from 59.25% to 100%). CONCLUSION: Phyllodes tumors of the breast are rare neoplasms with a wide range of clinicopathologic presentations. The core needle biopsy has a good diagnostic sensitivity compared to definitive diagnosis on surgical specimens. There was a statistically significant association between the histological grade of PT and tumor size, radiological suspicion, mitotic count, cellular atypia, stromal cellularity, and tumor necrosis.
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Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Mama/patologia , Tumor Filoide/diagnóstico , Tumor Filoide/patologia , Adolescente , Adulto , Idoso , Biópsia com Agulha de Grande Calibre , Neoplasias da Mama/cirurgia , Diagnóstico Diferencial , Feminino , Hospitais Universitários , Humanos , Pessoa de Meia-Idade , Marrocos , Estadiamento de Neoplasias , Tumor Filoide/cirurgia , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto JovemRESUMO
BACKGROUND: Breast tuberculosis is a rare form of extrapulmonary tuberculosis with clinical and radiological misleading presentations. We report herein a retrospective study of clinicopathological features of five cases of breast tuberculosis collected at Hassan II University Hospital of Fès, Morocco, a country where tuberculosis is endemic. CASE PRESENTATION: The mean age was 40.6 years (range of 21-59 years). Two patients presented with abscessed lesions, and three cases presented with breast lumps with a suspicion of malignancy on imaging techniques. The diagnosis has been made on histological specimens (3 biopsy specimens, 1 excisional biopsy, and 1 lumpectomy). All patients have been successfully treated after the completion of the standard antibiotherapy. CONCLUSIONS: Our current study shows that the breast is rarely affected by tuberculosis even in endemic area. The clinical presentation is often misleading, and the histopathological analysis constitutes a valuable diagnostic tool. The prognosis of breast tuberculosis is good after treatment by a standard antibiotherapy.
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BACKGROUND: Despite its rich vasculature, the penis is rarely involved by metastasis. Since the first description of penile metastasis in 1870, fewer than 500 cases have been reported in the literature. The pelvic organs are the main source of primary tumors that metastasize to the penis. CASE PRESENTATION: We report a case of a 46-year-old Arabic man who presented with erectile dysfunction and painful induration of the penile root. Eight months ago, he had undergone abdomino-perineal resection for rectal adenocarcinoma after neo-adjuvant chemotherapy. The histological evaluation of the resected specimen disclosed a ypT3N0 tumor with a poor therapeutic response (around 5%). An adjuvant chemotherapy by XELOX (oxaliplatin plus capecitabine) regimen has been prescribed for the patient. The magnetic resonance imaging (MRI) showed tumoral infiltration of penile structures and a biopsy of the corpora cavernosa was performed. The histological examination disclosed a penile metastasis from the patient's previous rectal adenocarcinoma. The patient is still alive and continues his adjuvant therapy. CONCLUSION: Penile secondary tumors are very rare and usually occur in patients with advanced tumor stages. A diagnosis of penile metastasis should be considered in patients with a history of malignancies who present with genitourinary symptoms. These patients have a dismal prognosis as they often die in the year after the diagnosis.
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Adenocarcinoma/patologia , Neoplasias Penianas/secundário , Neoplasias Retais/patologia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias Penianas/diagnóstico por imagem , Neoplasias Penianas/patologia , Antígeno Prostático Específico/metabolismoRESUMO
BACKGROUND: The occurrence of lung metastasis from benign uterine leiomyomas is rarely reported especially in post menopausal women. The pathogenesis of these metastatic benign tumors still remains a subject of various speculations. CASE PRESENTATION: A 57-year-old woman presented with a chronic cough and dyspnea. She had undergone 8 years previously, hysterectomy for benign leiomyomas. A chest computed tomography scan showed a 4 cm solitary nodular parenchymal tumor that increased in size after 12 months. The histological analysis of the biopsy from this nodule showed a benign tumor with regular spindle cells disposed in intersected fascicles. At immunohistochemical analysis, the tumor cells were positive for smooth muscle markers and oestrogen-progesterone receptors with a low mitotic index assessed by Ki-67. These features were consistent with a benign metastasizing uterine leiomyoma. At the multidisciplinary meeting, prescription of an aromatase inhibitor has been decided for the patient. CONCLUSIONS: Benign metastasizing uterine leiomyomas of the lung are very rare tumors. Although extremely rare in post menopausal women, their diagnosis should be considered in symptomatic patients with a history of hysterectomy for leiomyomas.