The expression of MDM2 in gastrointestinal stromal tumors: immunohistochemical analysis of 35 cases.

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.

The diagnostic value of the bronchoalveolar lavage in interstitial lung diseases.

OBJECTIVE: Bronchoalveolar lavage (BAL) is a diagnostic tool often used during the management of interstitial lung diseases (ILD). However, its diagnostic value in discrimination between entities comprising the very heterogenous group of ILD, is still a controversial issue. The objective of our study is to assess the diagnostic value of BAL in the management of ILD, by comparing the cytological findings in BAL fluid among the different diseases of this group. METHODS: It was a retrospective, observational study of 151 patients between January 2012 and December 2015. BAL fluid cytology was performed to analyse the distribution of leucocytes population subsets in patients with ILD. RESULTS: The mean age was 52.78 years; 74.83% were women. The analysis of the following main groups of diseases was performed : sarcoïdosis (n = 30), idiopathic pulmonary fibrosis (IPF; n = 22), other idiopathic interstitial pneumonia (non specific interstitial pneumonia, cryptogenic organising pneumonia and respiratory bronchiolitis interstitial lung disease; n = 20) and connective tissue disease (n = 14). Overall, out of 141 patients, 22% had sarcoïdosis, 15.6% had idiopathic pulmonary fibrosis (IPF), 14.18% had other idiopathic interstitial pneumonia (IIP) and 9.9% had connective tissue disease (CTD). Mixed alveolitis was common in the 4 groups, sarcoïdosis had higher proportion of lymphocytes and IPF had higher neutrophils count. However, there was no significant statistical difference of BAL cellular count among these diseases (p > 0.05). Also, the prevalence of studied diseases did not change with variation of BAL cellular count (p > 0.05). CONCLUSION: Alone, the BAL cytological analysis has a limited value to provide substantial information that could lead to discriminate between diseases that form ILD. Thus, it must be always associated with other diagnostic methods.

Mycetoma in a non-endemic area: a diagnostic challenge.

BACKGROUND: Mycetoma is a chronic granulomatous infectious disease caused by filamentous bacteria or by fungi. The disease is endemic in certain tropical and subtropical areas of the world but can be found elsewhere posing sometimes a diagnostic challenge for clinicians. CASE PRESENTATION: A 65-year- old man presented with a right foot swelling evolving for 25 years. During that time, several diagnosis and treatments have been made without any improvement. The disease spread to bones, and misdiagnosed as Kaposi's sarcoma. Transtibial amputation has been performed, and the histopathological examination revealed finally the diagnosis of eumycotic mycetoma. The patient recovered well after surgery and orthopedic prosthesis was prescribed for him. CONCLUSION: Mycetoma in non endemic areas is usually misdiagnosed and mismanaged leading to unnecessary and inappropriate surgery. Health practitioners should be aware of that fact in order to provide an accurate management.

Bone pathologic fracture revealing an unusual association: coexistence of Langerhans cell histiocytosis with Rosai-Dorfman disease.

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.

Cutaneous Squamous Cell Carcinoma: Clinico-Dermoscopic and Histological Correlation: About 72 Cases.

INTRODUCTION: Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer, accounting for 20% of malignant skin tumors. Dermoscopy is a very useful tool for diagnosing cSCC, and its findings are confirmed through histopathological studies. OBJECTIVES: to describe the different dermoscopic structures of invasive cSCC and investigate their association with the clinical form and histopathological grade of differentiation. METHODS: We conducted a cross-sectional study, collecting all patients diagnosed with squamous cell carcinoma over a period of 5 years. The study population was divided into two groups based on histological differentiation (well-differentiated and non-well-differentiated) and clinical form ( nodulo-ulcerative and nodular). Various dermoscopic parameters were compared between these groups. RESULTS: Out of 72 invasive cSCC, 81.9% were well-differentiated, while 18.1% were non-well-differentiated. The clinical form of cSCC was nodulo-ulcerative in 83.3% of cases and nodular in 16.7%. Well-differentiated tumors showed dotted, glomerular and hairpin vessels, along with a predominant white pattern characterized by centrally distributed keratin as well as white circles, and whitish perivascular halo (P < 0.05). The distribution of these white structures was radial in nodulo-ulcerarive lesions, whereas in nodular lesions, their distribution, as well as that of keratin, was more diffuse (P < 0.05). Non-well-differentiated tumors showed a combined white-red pattern with the predominance of arborizing vessels (P < 0.05). CONCLUSIONS: Our results show the reliability of dermoscopy as a tool for distinguishing between well- and poorly differentiated cSCC. This distinction is characterized by an increase in predominantly arborizing vessels and a corresponding decrease in white structures as the tumor progresses from a well-differentiated to a poorly differentiated state. Additionally, the nodulo-ulcerative form exhibits a central distribution of keratin, while the nodular form displays a diffuse distribution.

Unusual intracystic papilloma arising from ectopic axillary breast tissue: Case report.

Accessory breast tissue (supernumerary breast tissue) is due to the absence of regression of the primitive milk lines during embryonic life which extends from the axilla to the groin. It is mostly located in the axilla where it is often confused with the axillary extension of the breast, or any pathological process occurring in armpits. Ectopic mammary glands should not be misdiagnosed as it can potentially undergo the same pathological processes that occur in a normally located breast including benign or malignant breast tumors. We report the case of an intracystic papilloma arising from left axillary accessory breast tissue in a 63-year-old woman. The principal symptom was pain in a palpable left axillary mass without inflammatory signs. Subsequent imaging and histopathologic examination proved it to be a papillary tumor in ectopic breast tissue.

A case of ovarian endometrial stromal sarcoma: Radiological and histopathological findings.

Endometrial stromal sarcoma (ESS) is an uncommon uterine mesenchymal neoplasm. The primary extra-uterine location of ESS is a very rare occurrence. We present a case of a 39-year-old woman presented with severe abdominal pain, MRI showed bilateral ovarian tumors with heterogeneous intensity on T2-weighted imaging (T2WI) and T1-weighted imaging (T1WI), with restricted diffusion, including hyperintense areas on T1WI, not erased on T1-weighted fat-suppressed imaging, hypointense on T2WI, and not enhanced after contrast. This mass extended to the Douglas and invaded the uterine and the rectum serosa suggesting an underlying endometriosis. No abnormalities were suspected in the endometrium. The exploration revealed a friable mass arising from ovaries associated with nodules in the small intestine and sigmoid. The patient underwent bilateral adnexectomy and the anatomopathological study revealed a low-grade endometrial stromal sarcoma. This is one of the few reports covering the radiological features of low-grade extra-uterine ESS in the ovary which is probably secondary to degeneration of endometriosis with no evidence of primary uterine ESS.

Dermatofibrosarcoma protuberans of the anterior abdominal wall: case report and literature review.

Dermatofibrosarcoma protuberans (DFSP) is a rare and slowly growing cutaneous tumor with high risk of local invasion and recurrence. Here, we report a case of a DFSP of the anterior abdominal wall diagnosed in a 45-year-old woman. The clinical examination showed an indurated well-limited oval mass localized in the supra-umbilical level and measuring 5 cm by 3 cm. The histological finding of skin biopsy was consistent with the diagnosis of DFSP. A wide local excision was performed while respecting minimum safety margins of 3 cm. The primary closure was possible after advancing the subcutaneous adjacent tissue. The histological examination of the surgical specimen confirmed the DFSP diagnosis and determined safe microscopic margins. After 4 years of regular follow-up, no locoregional or distant recurrence was observed. We discuss through this case the diagnosis difficulties and the particularities of the abdominal wall localization.

Comparative analysis of clinicopathologic features between adenoma and hyperplasia in surgically treated patients for hyperparathyroidism: A retrospective study.

BACKGROUND: Hyperparathyroidism (HPT) is a common endocrine disorder resulting from overproduction of parathyroid hormone (PTH). Usually HPT is caused by parathyroid adenoma (PA) or parathyroid hyperplasia (PH). Our aim is to assess clinicopathologic features associated with PA and PH in patients with HPT. METHODS: We retrospectively collected 29 cases of HPT recorded at the Department of Pathology of Hassan II University Hospital of Fes, Morocco, from 2013 to 2016. RESULTS: The mean age was 52.14 ± 15.7 years (range of 22-76 years), 13 patients (44.8%) had primary HPT, 16 (55.2%) had secondary HPT. The largest size of the resected parathyroid specimens ranged from 1 to 3.6 cm (mean of 2.26 ± 0.66 cm). Seventeen patients (58.6%) had PA, the remaining cases were diagnosed as PH. There were no significant statistical differences between PA and PH in age, sex, clinical presentation, preoperative serum PTH, or in parathyroid gland size (P > 0.05). However compared to PH, PA is more often a single-gland disease, found in primary HPT with higher preoperative calcium level (P ˂ 0.05). CONCLUSIONS: In patients surgically treated for HPT, PA is associated with some distinctive clinicopathologic features. These findings could be helpful to pathologists and clinicians for appropriate clinicopathologic management.

[Outcome of locally advanced Darier and Ferrand dermatofibrosarcoma: about a case and literature review]. / Une réponse complète d'un dermatofibrosarcome de Darrier et Ferrand localement avancé: à propos d'un cas et revue de la littérature.

Darier and Ferrand dermatofibrosarcoma (DFS) is a rare skin tumor characterized by its local aggressiveness and a high risk of recurrences. Prognosis depends essentially on the quality of treatment. Complete response in Darier and Ferrand dermatofibrosarcoma with healthy margins, initially judged inoperable after 1 year of neoadjuvant imatinib-based treatment, has been rarely described in literature. We here report the case of a young female patient treated in the Department of Medical Oncology in FES for locally advanced DFS with complete response, in order to assess the role of imatinib and of targeted therapies in the treatment of DFS.

Phyllodes tumors of the breast: clinicopathological analysis of 106 cases from a single institution.

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.

Acute suppurative appendicitis associated with Enterobius vermicularis: an incidental finding or a causative agent? A case report.

BACKGROUND: Histological acute appendicitis patterns associated with Enterobius vermicularis is an extremely rare finding. The exact role of this parasite in acute appendicitis is controversial as usually resected specimens show no evidence of histological inflammation. CASE PRESENTATION: We present herein a case of a 21-year-old male Arabic patient who presented with clinical syndrome of acute appendicitis. Emergency appendectomy was performed and the histopathological examination of the resected specimen showed the presence of E. vermicularis as well as intense acute inflammatory patterns such as mucosal ulceration and suppurative necrosis. The post-operative course was uneventful and the patient was discharged with appropriate anti-helmintic drug prescription. CONCLUSION: Acute appendicitis due to E. vermicularis is a very rare occurrence. The histopathological analysis of resected specimens should pay special attention to search for this parasite for adequate post-operative treatment of patients.

Unexpected pulmonary tumor: metastasis from a benign uterine leiomyoma in a post-menopausal woman: a case report.

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.

Penile metastasis from rectal adenocarcinoma: a case report.

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.

Thymic large cell neuroendocrine carcinoma - a rare and aggressive tumor: a case report.

BACKGROUND: Neuroendocrine tumors are a large group of tumors with a wide spectrum of behavior, affecting mainly the digestive system and the lung. The thymus is very rarely affected. CASE PRESENTATION: A 28-year-old Arab woman presented with chronic chest pain and dyspnea. A computed tomography scan showed a huge anterior mediastinal mass invading neighboring structures. A mediastinotomy was performed with biopsies of the mass. Pathological findings were consistent with a thymic large cell neuroendocrine carcinoma. CONCLUSIONS: The occurrence of a large cell neuroendocrine carcinoma in the thymus, especially in young people, is extremely rare. In this current report, we discuss the clinicopathological issues of this rare tumor according to recent literature data.

An unusual site of metastasis: splenic metastastasis from a colon cancer.

Splenic metastasis from colorectal cancers is a very rare occurrence. Few cases have been reported in the literature. We report herein an additionnal case of metachronous splenic metastasis from adenocarcinoma of the sigmoid colon, 3 years after the diagnosis of the primary tumor. A 62-year old woman presented for regular follow-up after colectomy for sigmoid colon adenocarcinoma. A computed tomography-scan found two splenic metastatic nodules for which splenectomy had been performed. The histological analysis of the resected spleen showed a well-differentiated metastatic adenocarcinoma from colon. The patient recovered well after surgery, and 10 months after, she had no signs of the disease.