Choroidal Neovascularisation Complicating Chronic Central Serous Chorioretinopathy: The Discovery Rate on Multimodal Imaging.

PURPOSE: To identify the image modality allowing identification of choroidal neovascularisation (CNV) complicating chronic central serous chorioretinopathy (CSCR), including fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography angiography (OCT-A). METHODS: Patients diagnosed with chronic CSCR and secondary CNV were included in the study. The image modalities FA, ICGA, and OCT-A were reviewed for specific CNV signs permitting diagnosis. Patients with missing image modalities, poor image quality, previous laser treatment, or other confounding pathologies were excluded. RESULTS: CNV was identified on OCT-A in 32 of 33 eyes (97%), whereas ICGA revealed an abnormal vascular network in 23 eyes (70%), significantly less frequently than with OCT-A (p = 0.003). FA allowed CNV identification in 10 eyes (30%), significantly less frequently than with OCT-A (p < 0.001). Type 1 CNV was detected by OCT-A in 29 of 30 eyes (97%), by ICGA in 20 eyes (67%; p = 0.0027), and by FA in 8 eyes (27%; p < 0.001). CONCLUSIONS: OCTA is a useful diagnostic tool to detect occult CNV complicating chronic CSCR. This image modality might be important for adequate patient care.

Uncommon Thigh Mass in Neurofibromatosis Type 1: Unveiling Aggressive Epithelioid Sarcoma.

Background: Patients with neurofibromatosis type I (NF1) have an increased risk of developing soft-tissue sarcomas, particularly those related to the nervous system. Epithelioid sarcoma (ES) is an exceptionally rare subtype of soft-tissue sarcoma, with limited knowledge about its clinical presentation and optimal management in NF1. This report aims to provide insights into the characteristics and outcomes of ES in NF1 patients. Case description: A 37-year-old man with a history of NF1 presented with a progressively worsening mass on his right inner thigh. An MRI scan revealed a well-defined tissue mass originating from the adductor magnus muscle, later confirmed as ES through histopathology and immunohistochemistry. Considering poor local and general prognosis, the multidisciplinary team recommended salvage hip disarticulation, however the patient refused and opted for palliative marginal resection to reduce the tumour size. The patient's condition declined rapidly, and he succumbed six days after the surgery. Conclusion: This case highlights the rarity of ES in NF1 patients and underscores the potential for malignant tumour development in this population. Further research is needed to improve our understanding and management of sarcomas in the context of NF1. LEARNING POINTS: Patients with neurofibromatosis type 1 or von Recklinghausen's disease have a higher risk than those with other types of neurofibromatosis of developing benign or malignant soft-tissue tumours especially related to the nervous system.Epithelioid sarcoma is an extremely rare subtype of soft-tissue sarcoma and is exceptionally associated with neurofibromatosis type 1.A multidisciplinary approach remains essential in the diagnosis, management, and treatment of soft-tissue sarcomas in patients with neurofibromatosis type 1.

Ovarian ALK+ diffuse large B-cell lymphoma: a case report and a review of the literature.

Through this case presentation and a review of the literature, we aim to describe clinical and pathologic features and to distinguish the outcome of these tumors. A 25-year-old woman presented with pelvic pain and an iliac mass. Workup revealed a 53-mm cystic partitioned mass of the left ovary infiltrating the left sacrum. She underwent a left adnexectomy. Gross examination revealed a ruptured ovarian mass. When dissected, it showed grayish cerebroid aspects. Histologic examination revealed a malignant tumor proliferation of the diffuse large cells. An immunohistochemical analysis showed negative results for PLAP, αFP, ßHCG, CD117, CK20, and CD30. It also showed lack of B markers and T marker (CD3) and an expression of CD138 and anaplastic lymphoma kinase. The patient was treated by 6 cycles of CHOP chemotherapy and a pelvic radiotherapy. She presented with a 15-cm splenomegaly 26 months later and died of febrile neutropenia. Most patients follow an aggressive disease and are unlikely to respond to the standard.

[Atypical presentations of internal mammary chain involvement in breast cancer]. / Les aspects trompeurs de l'atteinte de la chaîne mammaire interne dans les cancers du sein.

BACKGROUND: Breast cancer is the first cancer in women. Lymphatic involvement in breast cancer is common, especially in our patients because of the frequency of locally advanced forms. This contrast with a weak rate of diagnosed internal mammary chain invasion. METHODS: We present observations of patients presenting atypical forms of internal mammary chain involvement. AIM: To clarify the atypical presentations of internal mammary chain involvement in breast cancer. RESULTS: The invasion of internal mammary chain is often underestimated. Indeed, this site of lymphatic spread is not accessible to the clinical exam and its radiological exploration is not systematic. Otherwise, different clinical, pathological and radiological presentations have to attract our attention to a potential internal mammary chain invasion. CONCLUSION: Our misrecognition of this site of spread and its different presentations can partly explain the lack of diagnosis.

Ascitic fluid cytology in malignant Brenner tumor: a case report.

BACKGROUND: Peritoneal effiusion is rare in malignant Brenner tumors and has been found in only 10% of patients. CASE: A 77-year-old woman presented with malignant Brenner tumor and ascites. The cytology of the ascitic fluid revealed many activated mesothelial cells intermingled with squamous tumoral cells. These cells were either isolated or arranged in small clusters. They were often round or oval with irregular and moderately hyperchromatic nuclei. CONCLUSION: Presence of squamous cells in ascitic fluid associated with an ovarian tumor should raise the possible diagnosis of malignant Brenner tumor in addition to malignant transformed teratoma and secondary squamous carcinoma of the ovary.

Predictors of treatment response to intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy for choroidal neovascularisation secondary to chronic central serous chorioretinopathy.

PURPOSE: The aim of this study was to evaluate the effect of anti-vascular endothelial growth factor (VEGF) therapy on choroidal neovascularisation (CNV) complicating central serous chorioretinopathy (CSC) using multimodal imaging, and to identify possible predictive factors of the treatment response. DESIGN: Retrospective study. METHODS: Data of 27 eyes with CNV complicating CSC treated with anti-VEGF therapy (either ranibizumab or aflibercept) were reviewed. Response to anti-VEGF treatment was evaluated by change in visual acuity, intra/subretinal fluid modifications and CNV changes on optical coherence tomography angiography (OCTA). Univariate and multivariate analyses were performed to identify predictive factors for central retinal thickness (CRT) change and for the relative degree of treatment response (complete, incomplete or absent fluid reduction). RESULTS: CRT was significantly reduced at 32±15 days after 2.8±1.3 injections (p=0.0004) as was the subretinal fluid (p=0002). Complete fluid resorption was observed in 45% of cases. Best corrected visual acuity did not significantly improve (p=0.18). CNV area (p=0.09) and CNV flow area (p=0.07) did not significantly decrease. No changes in CNV pattern were noted. Univariate analysis identified greater CRT at baseline (p<0.0001), greater amount of subretinal fluid (p<0.0001), a shorter period of retinal fluid (p=0.04) and female gender (p=0.04) as predictors for CRT reduction. After multivariate analysis the factor of greater CRT at baseline (p<0.0001) proved independent. The degree of treatment response was dependent on the size of CNV surface (p=0.05) and flow area (p=0.05) on OCTA in the univariate analysis, and the latter independent after multivariate analysis. In addition, a shorter time period of retinal fluid appeared to play a role (p=0.01 multivariate, p=0.19 univariate). CONCLUSION: The anti-VEGF response was highly variable and often incomplete, suggesting that CNV was not solely responsible for the fluid accumulation. Predictive factors may guide indication for anti-VEGF in CNV associated with CSC.

Cotyledonoid dissecting leiomyoma of the uterus associated with endosalpingiosis.

Cotyledonoid dissecting leiomyoma (CDL) may create a diagnostic challenge. A 47-year-old woman underwent laparotomy for a large pelvic mass associated to vaginal bleeding. During operation, a bulky deep red mass protruding from the uterus and projecting into the pelvic cavity was discovered. Allowing to sarcoma- like appearance, a total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed with removal of the pelvic tumor extension. The diagnosis of cotyledonoid dissecting leiomyoma of the uterus associated with endosalpingiosis was performed. To the best of our knowledge, this association has never been encountered in the English literature.

[Internal mammary lymph node invasion in breast cancer: myth or reality?]. / L'atteinte de la chaîne mammaire interne dans le cancer du sein: mythe ou réalite?

The internal mammary nodes are often underestimated as breast cancer lymphatic pathway spread. It is yet the first site of lymphatic invasion in central or internal tumors and the second site in external tumors. The intra-thoracic situation of internal mammary nodes explains partly, the difficulty of its exploration. To evaluate the risk of internal mammary node invasion, some predictive factors are established (tumor size, internal or central tumor location, axillary node invasion and young age). Prognostic and therapeutic impact of invasion justifies its systematic research. Without exploring internal mammary nodes status, TNM classification remains, incomplete. CT scanner, magnetic resonnance imaging, positron emission tomography scanner and sentinel node exploration technique are helpful to explore this region and to adapt its irradiation.

Are HLA DQB1 alleles correlated with breast cancer histopronostic parameters in Tunisia?

BACKGROUND: Tumor cells express surface structures different from normal cells. These structures may be recognized by the immune system, which ensure anti-tumoral surveillance. Antigenic presentation requires HLA molecules role. Since, these molecules are encoded by a high polymorphic system, immune response can be modulated according to HLA genotype. So, HLA polymorphism could be correlated with tumor escape from anti-tumor immunosurveillance. AIM: We have aimed to search for possible associations between HLA DQB1 alleles and the histoprognostical parameters in breast cancer in the Tunisian population. METHODS: DQB1 alleles were determined by PCR-SSO molecular typing in 100 healthy matched and unrelated Tunisian female and 87 Tunisian women with breast cancer. RESULTS: Allelic distribution between the two studied groups showed no significant associations between this locus and the occurrence, the EE grade and the lymph node invasion of breast cancer in the Tunisian population. CONCLUSION: This result may be explained by the fact that cancer is a multifactoral disease due to several interacting factors that might change from one population to another.

Expression and polymorphism of micro-RNA according to body mass index and breast cancer presentation in Tunisian patients.

Micro-RNAs (miRs) constitute a class of small noncoding RNAs implicated in the regulation of gene expression by binding to target mRNAs. A miR can target several mRNAs, being involved in different biologic processes and pathologies. This pleiotropic function might explain the link between diseases co-occurrence. Epigenetic origin of the link between obesity and breast cancer (BC) is investigated in a cohort of Tunisian patients, focusing on polymorphism at germline level (miR-146a) and on expression in mammary tumors (miR-21, miR-146a, and miR-34a), according to body mass index (BMI) and clinico-pathologic features. The measure of miR expression in 60 mammary tumors was realized using quantitative RT-PCR. Study of rs 2910164 in miR-146a was performed by PCR and direct sequencing using blood DNA of 83 affected women and 50 unrelated subjects from Great Tunis. MiR-21, miR-146a, and miR-34a have been quantified in breast tumor according to BMI. MiR-21 is significantly more expressed in tumors of obese women comparatively to nonobese patients. On the contrary, miR-34a is decreased in tumors of obese women. Moreover, in obese BC patients, a significant increase in both miR-21 and miR-146a expression is revealed in cases with lymph node metastasis. The polymorphism at rs 2910164 (miR-146a) locus was not shown as a risk factor for BC. However the mutant CC genotype was revealed to be associated with a risk for bad outcome of the disease. Chronic inflammation in obese women would be linked to aggressive breast tumors via induction of oncomiRs overexpression and decrease of tumor suppressor miRs.

[Endometrial atypical complex hyperplasia with extensive squamous metaplasia: two cases]. / L'hyperplasie complexe atypique (HCA) de l'endomètre avec métaplasie malpighienne (MM) extensive. A propos de deux observations.

We report two cases of endometrial atypical complex hyperplasia with an extensive squamous hyperplasia occurring in two women aged 48 and 31 years old. The histological study showed an increase in the gland to stroma ratio with a false crowding aspect due to an extensive area of squamous metaplasia; some metaplastic areas were centered by necrosis. There was glandular cytologic atypia. Histologic examination is necessary to confirm the diagnosis and to definitively rule out adenocarcinoma.

[Clear-cell sarcoma of the kidney. Two pediatric cases]. / Sarcome à cellules claires du rein. A propos de deux cas pédiatriques.

Clear-cell sarcoma of the kidney is a rare pediatric renal sarcoma with poor prognosis and propensity to metastasize to bone. It is a distinctive renal malignancy regarded as a morphologic feature of Wilms' tumor. We report two cases occurring in four-year and 12-month-old boys, explored for abdominal masses. They were treated by surgery and chemotherapy. The histological diagnosis was clear cell sarcoma. Patients were doing well at 10 and seven months respectively.

[Chronic granulomatous disease in childhood]. / La maladie granulomateuse chronique de l'enfant.

Chronic granulomatous disease (GCD) of childhood is a rare inherited immunodeficiency. It is characterized clinically by the occurrence of severe and recurrent uncontrollable infections, which often lead to death in early childhood. The underlying biologic anomaly is a defective microbicidal capacity of phagocytosis with abnormal oxidative response during phagocytosis. Histologically, the GCD is characterized by a spectrum of histopathological features in a wide range of tissue specimens, often demonstrating features of active chronic inflammation, with or without non-caseating granuloma formation. The presence of numerous pigmented macrophages in association with such an inflammation should raise suspicion of the diagnosis. We report a case of a GCD in an 11-year-old boy and study the anatomoclinic features of this rare entity.

[Cholestasis caused by a choledochal botryoid rhabdomyosarcoma in a 22-month-old boy]. / Une choléstase causée par un rhabdomyosarcome botryoïde du cholédoque chez un nourrisson de 22 mois.

Botrioid rhabdomyosarcoma of the extrahepatic bile ducts is a rare cause of jaundice in children. It has a very poor prognosis and is rarely diagnosed preoperatively. We report a choledochal botrioid rhabdomyosarcoma in a 22-month-old boy who developed an obstructive jaundice. Radiographic explorations suggested cystic lymphangioma. The gallbladder, the cystic duct, the common bile duct and the pancreatic head were resected. The diagnosis was made on pathological examination; adjuvant chemotherapy followed. The patient was disease free 20 months following treatment.

CRX-linked macular dystrophy with intrafamilial variable expressivity.

BACKGROUND: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. CASE REPORT: A 21-year-old Caucasian male from a Swiss family was investigated for decreasing central visual acuity associated with dischromatopsia. Clinical examination revealed posterior pole atrophy, including the maculopapillary bundle. Multimodal imaging, including autofluorescence, showed a hyperautofluorescent paramacular ring in both eyes. Genetic analysis identified a c.313C>T, p.Q105* nonsense mutation in CRX. The same mutation was identified in his father and uncle. Both of them showed signs of the disease, however with different severity. CONCLUSION: We describe an intrafamilial variable expressivity of a CRX mutation causing an isolated macular dystrophy.

Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma.

CONTEXT: Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to cytomorphology. Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene. AIM: To match blind genetic analysis of CRC and tumor samples with CRC cytopathological diagnosis. RESULTS: 29/30 patients harboured CRC (20 harboured CCC, 29 CRC-UMF) and 25/29 patients carried VHL mutations in their tumour. 205 single CRC (64 CCC, 141 CRC-UMF) provided genetic data. 57/57 CCC and 104/125 CRC-UMF from the 25 patients with VHL-mutated tumor carried the same VHL mutation detected in the tumor. Seven CCC and 16 CRC-UMF did not carry VHL mutations but were found in patients with wild-type VHL tumor tissue. CONCLUSIONS: All the CCC and 83,2% (104/125) of the CRC-UMF were found to carry the same VHL mutation identified in the corresponding tumorous tissue, validating cytopathological identification of CCC in patients with clear cell renal cell carcinoma. METHODS: The blood of 30 patients with clear cell renal cell carcinoma was treated by ISET® for CRC isolation, cytopathology and single-cell VHL mutations analysis, performed blindly and compared to VHL mutations of corresponding tumor tissues and leukocytes.

Inflammatory breast cancers in Tunisia and France show similar immunophenotypes.

PURPOSE: Inflammatory breast cancers (IBC) have specific immunophenotypic profiles as compared to non-inflammatory (non-IBC): combined differential expression of estrogen receptor, Ki67, E-cadherin, MUC1, and ERBB2 can be used as an IBC signature. It is thought that IBC occurs with a high frequency in Tunisia. The aim of this study is to evaluate this signature on a Tunisian series. METHODS: The expression of five proteins (E-cadherin, ERBB2, estrogen receptor, Ki67, MUC1) was studied by immunohistochemistry on a consecutive series of 91 cases of IBC (T4D) treated at Tunisian Salah Azaiz Institute (ISA) and deposited in a tissue microarray (TMA). Results were compared to the same study on a series of 85 cases treated in France. RESULTS: The ISA cases were characterized by a significantly younger age of patients (median: 42 years old in ISA for 53.5 in IPC, p=0.00042) and a higher frequency of invasive micropapillary pattern. None of the five parameters was expressed differentially in the two series. In non-metastatic patients, high level of proliferation (Ki67) and overexpression of ERBB2 were associated with poor outcome. CONCLUSION: The IBC from Tunisia were not different from those observed in France on the basis of IHC profiles. However, the younger age of the patients suggest a specific epidemiological context that should be investigated.

[Retroperitoneal well-differentiated inflammatory liposarcoma]. / Liposarcome bien différencié inflammatoire rétropéritonéal.

Inflammatory liposarcoma represents a rare variant of well-differentiated liposarcoma in which a chronic inflammatory infiltrate predominates simulating the appearance of malignant lymphoma and other nonneoplastic lesions. A case of this lesion occurring in the retroperitoneum was described in 43-year-old man. The differential diagnosis, especially from lymphoma and non neoplastic lesions such as inflammatory myofibroblastic tumor and Castelman disease are discussed.

[Malignant proliferating trichilemmal tumor]. / La tumeur trichilemmale proliférante maligne.

Proliferating trichilemmal tumor (PTT) is a rare distinctive lesion that usually occurs in the scalp of elderly women. About 40 cases of malignant PTTs have been reported. Alternatively, some authors have proposed that all PTT are squamous cell carcinomas. We report a case of a malignant PTT on the scalp in 44-year-old man. Clinical features and histological criteria for diagnosis of malignant versus benign PTT are discussed.