Holoprosencephaly (HPE) : case report and review of the literature.

INTRODUCTION: Holoprosencephaly (HPE) is a complex brain malformation resulting from a medial cleavage defect of the prosencephalon into right and left hemispheres, occurring during early embryonic development. CASE PRESENTATION: We report an alobar holoprosencephaly diagnosed on imaging (obstetrical ultrasound) and revealed by a polymalformative syndrome in an 8-month-old infant. DISCUSSION: Holoprosencephaly affects the forebrain and face, causing neurological manifestations and facial anomalies of varying severity. HPE is a cerebral midline anomaly. CONCLUSION: Its fetal prognosis is extremely guarded, particularly for the alobar form.

Tubal adenocarcinoma: Report of 3 cases and review of the literature.

INTRODUCTION: Tumors of the uterine tube are rare pathologies representing less than 1 % of all gynecologic cancers; they are dominated by adenocarcinomas. Secondary metastatic forms are the most frequent, whereas primary tumors are very rare and represent only 10 %, which suggests that the fallopian tube is an organ with low oncogenic potential. REPORT OF TWO CASES: We report the two cases of a patients followed in the gynecology department C of the CHU IBN ROCHD CASA for a primary tubal adenocarcinoma. DISCUSSION: The diagnosis of its origin is difficult preoperatively, the treatment and staging are the same as for ovarian cancer. CONCLUSION: The treatment is also identical to the management of ovarian cancer, but their prognosis is better because they are most often diagnosed at an earlier stage.

Ovarian cystic tumor composed of brenner tumor and stroma ovarii.

INTRODUCTION: Brenner's tumors are transitional cell ovarian tumors composed of mature cells similar to urothelial cells forming nests within a fibromatous stroma. CASE REPORT: In this observation we report the case of a brenner's tumor diagnosed in a 63 year old female patient. The positive diagnosis was difficult to retain. DISCUSSION: Brenner tumors are rare fibroepithelial ovarian tumors, representing 1 to 2 % of all ovarian tumors. They are almost always benign. CONCLUSION: The treatment is essentially surgical and the indication of chemotherapy remains debatable.

Tubal adenocarcinoma in a case report.

INTRODUCTION: Tumors of the uterine tube are rare pathologies representing less than 1 % of all gynecologic cancers; they are dominated by adenocarcinomas. Secondary metastatic forms are the most frequent, whereas primary tumors are very rare and represent only 10 %, which suggests that the fallopian tube is an organ with low oncogenic potential. CASE REPORT: We report the case of a patient followed in the gynecology department C of the CHU IBN ROCHD CASA for a primary tubal adenocarcinoma, with a history of breast cancer. DISCUSSION: The diagnosis of its origin is difficult preoperatively, the treatment and staging are the same as for ovarian cancer. CONCLUSION: The treatment is also identical to the management of ovarian cancer, but their prognosis is better because they are most often diagnosed at an earlier stage.

Breast neurofibroma: A case report.

INTRODUCTION: Neurofibromatosis type 1 or Von Recklinghausen disease is a rare autosomal dominant hereditary disease with total penetrance. It is characterized by an extreme clinical variability that is also found within the same family. PRESENTATION OF CASE: We report a case of neurofibroma exceptional by its location in the breast in a 40-year-old woman with Von Recklinghausen disease, discovered by a breast nodule on self-examination. A biopsy-exeresis had concluded on the anatomopathological examination to the diagnosis of neurofibroma. DISCUSSION: Breast involvement in neurofibromatosis is extremely rare and possible. Rapid and adequate management of patients with Von Recklinghausen disease is essential in order to make the diagnosis early and to institute appropriate treatment as soon as possible, given the risk of possible malignant transformation. CONCLUSION: Diagnosis is essentially based on anatomopathological study. This confirms the diagnosis and rules out possible associated malignancy.

Desmoidfibromatosis of the breast after breast reduction: A case report and a review of the literature.

INTRODUCTION: Desmoids fibromatosis is a rare pathology whose definitive diagnosis is histological. Although it presents clinical and radiological similarities with breast carcinoma. CASE REPORT: In this observation, we report a case of desmoids fibromatosis diagnosed in a 51-year-old female patient. The positive diagnosis was difficult to retain. DISCUSSION: Desmoids fibromatosis remains a benign pathology with a high recurrence rate and a local aggressiveness requiring an enlarged lumpectomy with sufficient margins up to 3 cm. CONCLUSION: Radiotherapy remains a therapeutic option in addition to surgery in incomplete sections and in case of multiple recurrences. The place of medical treatments, in particular anti-estrogens, is not clearly defined.

Neuroendocrine carcinoma of the breast: A case report and review of the literature.

INTRODUCTION: Neuroendocrine carcinomas mainly affect the bronchopulmonary system and the gastrointestinal tract. Mammary localizations are rare. They represent less than 0.1 % of all breast cancers and less than 1 % of neuroendocrine tumors. CASE REPORT: Our case concerns a 50-year-old female patient, who has presented for one year with a rapidly evolving, hard, right breast nodule without associated adenopathy. DISCUSSION: The diagnosis of certainty is based on histological study, and more particularly on immunohistochemical study. Studies concerning this entity are rare and include a small number of cases. We have described a case of triple negative neuroendocrine carcinoma with a high proliferation index. The study of larger series will allow us to better understand their histogenesis as well as their evolutionary profile. CONCLUSION: The treatment of endocrine tumors of the breast is mainly surgical. The indications for chemotherapy and radiotherapy are the same as for other breast cancers.

Desmoid fibromatosis of the breast occurring after breast reduction surgery mimicking a carcinoma: A rare case report.

Introduction: Desmoid tumors are benign mesenchymal tumors developed at the expense of muscular fasciae and aponeuroses. The mammary localization is a rare entity, representing less than 0.2% of all breast tumors. It is characterized by a strictly local evolution and its tendency to recur without giving metastases. Its clinical and radiological presentation is similar to a breast carcinoma which is the main differential diagnosis. Case presentation: Patient aged 51 years, primigravida primiparous, followed for right breast cancer diagnosed at the age of 49 years for which she received a right mastectomy and axillary lymphnode dissection and contralateral breast reduction. It was a 4 cm infiltrating ductal carcinoma, SBR III Luminal B, 0 N+/20 N with presence of fibrous mastopathy without sign of malignancy at the left breast reduction specimen.The patient received adjuvant chemotherapy, external radiotherapy and hormone therapy.One year after surgery, the patient returned for a four x 2 cm left breast nodule in the upper medial quadrant. The biopsy confirmed the diagnosis of fibromatosis of the breast. A wide local excision was performed. Discussion: The etiology of this tumor is unknown, however, physical, hormonal and genetic factors play an important role in the development of desmoid tumor.The clinical presentation is similar to breast carcinoma, making it difficult to differentiate this tumor from breast carcinoma. Breast imaging techniques are not specific for desmoid fibromatosis. Treatment is based primarily on complete surgical excision. Conclusion: Breast fibromatosis is a rare entity, clinically and radiologically mimicking breast cancer. Only histology will provide the diagnosis. The treatment of choice is based on complete surgical excision with healthy safety margins.

Vaginal leiomyoma mimicking a Cystocele (report case).

INTRODUCTION AND IMPORTANCE: Leiomyoma, known as a disease of the uterus, composed of spindle-shaped smooth muscle fibers and collagenous stroma, is rarely encountered in other sites especially in the vagina. CASE PRESENTATION: We report, here, an exceptional case of a vaginal leiomyoma situated in the anterior vaginal wall suggesting in the first place a cystocele. The MRI objectified a rounded formation of the anterior wall of the vagina with regular contours highly suggestive of a vaginal leimyoma. The tumor was surgically removed by the vaginal route. The histopathologic examination confirmed the diagnosis of vaginal leiomyoma. CLINICAL DISCUSSION: Vaginal leiomyomas are commonly seen in women between the ages of 35 and 50 and are believed to be more common in Caucasian women. Although a rare tumor, vaginal leiomyomas may present with a variety of clinical features and may be mistaken preoperatively for a cystocele, urethrocele, Skene's duct abscess, Gartner's duct cysts, urethral diverticulum, vaginal cysts, cysts Bartholin's gland or a malignant vaginal tumor. The diagnosis is based on careful examination and preoperative imaging (ultrasonography and MRI). Removal of the tumor by vaginal route, wherever possible, with subsequent histopathological examination appears to be the optimum management plan. Although the lesion is benign, local recurrences following incomplete resection and sarcomatous changes have been reported. CONCLUSION: Vaginal leiomyoma is a rare benign tumor. The diagnosis is often made only postoperatively after resection of the mass. The tumors may be found in any location within the vagina but are most commonly located on an anterior wall. Imaging can confirm the vaginal origin of the lesion. Surgical excision is the treatment of choice. The diagnosis is based on the histological study of the tumor.

Radiotherapy-induced uterine cacinosarcoma: A case report and review of the literature.

Radiation therapy is a very effective treatment modality for cervical cancer, but unfortunately, ionizing radiation is associated with many side effects, including secondary cancer formation. We report a case of carcinosarcoma of the uterus in a woman with a history of pelvic irradiation for cervical carcinoma. A review of the literature was performed to present the incidence, optimal management, and prognosis for post-radiation uterine carcinosarcoma.

Primary ovarian fibroma in a postmenopausal woman: A case report.

INTRODUCTION: Primary ovarian leiomyoma is a rare benign tumor of the ovary seen in women between 20 and 65 years old. Clinical, ultasonographic and tumor marker data remain the best preoperative approach currently available for ovarian tumours. Only pathological examination can establish the diagnosis. CASE PRESENTATION: We describe a case of unilateral, ovarian leiomyoma. The abdomino-pelvic Computed tomography (CT) and magnetic resonance imaging (MRI) revealed a left adnexial mass. A hysterectomy without adnexal preservation was performed, and histological examination revealed a leiomyoma arising primarily in the ovary. The diagnosis was confirmed immunohistochemically. DISCUSSION: The tumor may be asymptomatic or may manifest with lower abdominal pain associated to metrorrhagia like in our case. The definitive diagnosis of these lesions is difficult prior to surgical removal. Because there is no pathognomonic symptoms or characteristic imaging findings. The correct diagnosis of an ovarian leiomyoma is confirmed immunohistochemically. CONCLUSION: This rare tumor of the ovary should be considered in the differential diagnosis of solid ovarian masses. An immunohistochemical analysis is recommended for definitive diagnosis.

NLRP7 Promotes Choriocarcinoma Growth and Progression through the Establishment of an Immunosuppressive Microenvironment.

The inflammatory gene NLRP7 is the major gene responsible for recurrent complete hydatidiform moles (CHM), an abnormal pregnancy that can develop into gestational choriocarcinoma (CC). However, the role of NLRP7 in the development and immune tolerance of CC has not been investigated. Three approaches were employed to define the role of NLRP7 in CC development: (i) a clinical study that analyzed human placenta and sera collected from women with normal pregnancies, CHM or CC; (ii) an in vitro study that investigated the impact of NLRP7 knockdown on tumor growth and organization; and (iii) an in vivo study that used two CC mouse models, including an orthotopic model. NLRP7 and circulating inflammatory cytokines were upregulated in tumor cells and in CHM and CC. In tumor cells, NLRP7 functions in an inflammasome-independent manner and promoted their proliferation and 3D organization. Gravid mice placentas injected with CC cells invalidated for NLRP7, exhibited higher maternal immune response, developed smaller tumors, and displayed less metastases. Our data characterized the critical role of NLRP7 in CC and provided evidence of its contribution to the development of an immunosuppressive maternal microenvironment that not only downregulates the maternal immune response but also fosters the growth and progression of CC.

Antagonism of EG-VEGF Receptors as Targeted Therapy for Choriocarcinoma Progression In Vitro and In Vivo.

Purpose: Choriocarcinoma (CC) is the most malignant gestational trophoblastic disease that often develops from complete hydatidiform moles (CHM). Neither the mechanism of CC development nor its progression is yet characterized. We recently identified endocrine gland-derived vascular endothelial growth factor (EG-VEGF) as a novel key placental growth factor that controls trophoblast proliferation and invasion. EG-VEGF acts via two receptors, PROKR1 and PROKR2. Here, we demonstrate that EG-VEGF receptors can be targeted for CC therapy.Experimental Design: Three approaches were used: (i) a clinical investigation comparing circulating EG-VEGF in control (n = 20) and in distinctive CHM (n = 38) and CC (n = 9) cohorts, (ii) an in vitro study investigating EG-VEGF effects on the CC cell line JEG3, and (iii) an in vivo study including the development of a novel CC mouse model, through a direct injection of JEG3-luciferase into the placenta of gravid SCID-mice.Results: Both placental and circulating EG-VEGF levels were increased in CHM and CC (×5) patients. EG-VEGF increased JEG3 proliferation, migration, and invasion in two-dimensional (2D) and three-dimensional (3D) culture systems. JEG3 injection in the placenta caused CC development with large metastases compared with their injection into the uterine horn. Treatment of the animal model with EG-VEGF receptor's antagonists significantly reduced tumor development and progression and preserved pregnancy. Antibody-array and immunohistological analyses further deciphered the mechanism of the antagonist's actions.Conclusions: Our work describes a novel preclinical animal model of CC and presents evidence that EG-VEGF receptors can be targeted for CC therapy. This may provide safe and less toxic therapeutic options compared with the currently used multi-agent chemotherapies. Clin Cancer Res; 23(22); 7130-40. ©2017 AACR.

[Meckel Gruber syndrome: about a rare case]. / Syndrome de Meckel Gruber: à propos d'un cas rare.

Meckel Gruber syndrome is a rare autosomal recessive polymalformation syndrome characterized by occipital encephalocele, polydactyly and cystic renal dysplasia. Ultrasound is, at present, the best tool for prenatal screening of this lethal polymalformation and diagnosys is confirmed by karyotyping. We here report a case of Meckel Gruber syndrome detected by ultrasound. Abortion was performed at 25 weeks of amenorrhoea.

Prokineticins in central and peripheral control of human reproduction.

Prokineticin 1 (PROK1) and (PROK2), are two closely related proteins that were identified as the mammalian homologs of their two amphibian homologs, mamba intestinal toxin (MIT-1) and Bv8. PROKs activate two G-protein linked receptors (prokineticin receptor 1 and 2, PROKR1 and PROKR2). Both PROK1 and PROK2 have been found to regulate a stunning array of biological functions. In particular, PROKs stimulate gastrointestinal motility, thus accounting for their family name "prokineticins". PROK1 acts as a potent angiogenic mitogen, thus earning its other name, endocrine gland-derived vascular endothelial factor. In contrast, PROK2 signaling pathway has been shown to be a critical regulator of olfactory bulb morphogenesis and sexual maturation. During the last decade, strong evidences established the key roles of prokineticins in the control of human central and peripheral reproductive processes. PROKs act as main regulators of the physiological functions of the ovary, uterus, placenta, and testis, with marked dysfunctions in various pathological conditions such as recurrent pregnancy loss, and preeclampsia. PROKs have also been associated to the tumor development of some of these organs. In the central system, prokineticins control the migration of GnRH neurons, a key process that controls reproductive functions. Importantly, mutations in PROK2 and PROKR2 are associated to the development of Kallmann syndrome, with direct consequences on the reproductive system. This review describes the finely tuned actions of prokineticins in the control of the central and peripheral reproductive processes. Also, it discusses future research directions for the use of these cytokines as diagnostic markers for several reproductive diseases.