Endometrial carcinoma arising in one horn of a didelphys uterus.

OBJECTIVE: Endometrial cancer in uterine anomalies is very rare. Currently, few cases with endometrial cancer coexistent with didelphys uterus are described. We present a case of a patient with carcinoma in one only horn of a didelphys uterus. CASE REPORT: A 50-year-old woman presented with abnormal uterine bleeding. Uterine anomaly was uncertain on initial clinical examination and pelvic ultrasonography. The MRI study showed double uterus and cervixes, a uterine didelphys was suspected. Preoperative histology from curettage described endometrioid adenocarcinoma. The patient underwent laparoscopic hysterectomy with surgical staging. Macroscopic examination revealed a didelphys uterus, and the final histology confirmed the diagnosis of uterine cancer. CONCLUSION: The coincidence of uterine malignancies and uterine anomalies is rare; however, it should be aware of uncertain diagnosis and delaying of treatment.

Congenital Myoepithelial Carcinoma of Soft Tissue Associated With Cystic Myoepithelioma.

Myoepithelial neoplasms of soft tissue represent a heterogeneous group of lesions, encompassing both benign entities as myoepithelioma (ME) and highly aggressive tumors as myoepithelial carcinoma (MEC). We describe a case of pediatric soft tissue MEC with peculiar features that may lead to misdiagnosis: congenital onset and presence of a benign component with predominant cystic structure. Few cases of congenital MEC have been reported, but the coexistence of MEC with ME is even more rare, accounting for less than 1% of myoepithelial tumors. Moreover, an extensive cystic appearance had never been described in either ME or MEC of soft tissue. Despite several predictors of poor prognosis, the patient has been showing a favorable clinical course since the administration of ICpE (ifosfamide, cisplatin, and etoposide) chemotherapy. This report provides valuable information in the differential diagnosis of cystic congenital tumors and supports a possible efficacy of adjuvant combined treatment for patients with localized disease after surgery.

A rare case of congenital choroid plexus carcinoma.

We report a 1-year-old child with the prenatal (week 29 + 5) diagnosis of a brain tumor. The parents were informed about all aspects of prognosis and options concerning termination of pregnancy. The parents opted for an aggressive therapeutic approach after extensive and informative case conferences and counseling. The histopathological diagnosis after partial tumor resection was choroid plexus carcinoma, two weeks thereafter tumor size was progressive. The parents opted for palliative treatment at this stage. The patient died at the age of one year. Ethical aspects have to be actively considered and addressed when caring for children with choroid plexus carcinoma.

An unusual presentation of congenital adrenocortical carcinoma: a case report and review of the literature.

We describe a case of congenital non-functional adrenocortical carcinoma in a male infant who presented with recurrent pneumonia, paraparesis and sclerotic skeletal metastasis. To the best of our knowledge such presentation has never been reported.

Congenital solitary eyelid trichoepithelioma.

Trichoepitheliomas are unusual, benign tumors of hair follicle origin. They may present in children and adults as acquired lesions on the body and face, but they rarely involve the eyelids. Solitary trichoepitheliomas have not previously been reported in infants. We present a first report of congenital solitary eyelid trichoepithelioma in an infant and review the classification of trichoepitheliomas.

NUT midline carcinoma in a newborn with multiorgan disseminated tumor and a 2-year-old with a pancreatic/hepatic primary.

NUT midline carcinoma (NMC) is a rare and aggressive malignant epithelial tumor defined by rearrangement of the NUT gene on chromosome 15. In two thirds of cases, NUT is involved in a balanced translocation with BDR4 on chromosome 19, while in the remaining cases, NUT is rearranged with variant fusion partners such as BRD3. These undifferentiated tumors primarily affect midline structures, usually in the upper aerodigestive tract and mediastinum. Most reported cases have followed a rapidly lethal clinical course. We report the clinical and pathological findings of NMC in the youngest patients identified so far. The 1st case involves a newborn who presented with a supraorbital mass and extensive multiorgan involvement, including the spine, lungs, liver, pancreas, adrenal glands, and subcutaneous tissue. The 2nd patient was a 2-year-old male with an abdominal mass involving the liver and pancreas with pulmonary metastasis. Histopathological analysis of both tumors showed undifferentiated malignant neoplasms, and immunohistochemistry showed positivity for epithelial markers. Both tumors demonstrated t(15;19), and immunohistochemistry with NUT monoclonal antibodies and fluorescent in situ hybridization confirmed NUT rearrangement. The patients died from disease at 1 and 2 months postpresentation. Thus far, 25 cases have been reported, including our 2 current cases. Presentation ages range from 0 to 78 years (mean, 23 years). Herein, we report the 2 youngest reported cases of NMC, including the 1st congenital case and the 1st case arising within the liver/pancreas. Increased awareness and further molecular studies are required for a better understanding of NMC pathobiology and improved therapeutic outcomes.

[Multiple familiar trichoepithelioma (Brooke's syndrome) : A rare autosomal dermatosis with possible periocular manifestation]. / Multiple familiäre Trichoepitheliome (Brooke-Syndrom) : Eine seltene Genodermatose mit möglicher periokulärer Manifestation.

Brooke's syndrome is a rare autosomal dominant dermatosis characterized by multiple trichoepitheliomas, which preferentially arise in the face. Therapy consists of excisional surgery of larger tumors and for multiple lesions, dermal abrasion or laser therapy may be considered. Patients with Brooke's syndrome should be closely followed-up due to the possible development of malignant skin tumours. Here, we present a patient with Brooke's syndrome and report on the course of treatment.

[Epithelial-cystic nevus of the conjunctiva (Parinaud's dermo-epithelioma)]. / Nevul epitelio-chistic al conjunctivei (dermo-epiteliomul Parinaud).

The epithelio-cystic nevus of the conjunctiva, initially improperly denominated by Parinaud dermo-epithelioma, is a dysplasia circumscribed at the level of bulbar conjunctiva, characterized by its forming of epithelial cysts which develop in a base layer made of nevoid cells. This affection evolves by forming epithelial cysts mostly muciparus ones, when the tumor is sited rather far from the limbus, where multiple chaliced cells are to be found in the epithelium, and as simple epithelial cysts, mostly in the epidermis, when it is sited near the limbus where chaliced cells are scarcer. In this condition the setting of the epithelial compound takes the form of full lobules. The nevoid compound represents the capital element which establishes the diagnosis. The epitheliocystic nevus of conjunctiva is a benign dysembryo with excessive development of epithelial cells in a basic layer of nevoid cells. This affection is benign, but its morphologic diversity and its many denominations give rise to periodical debates.

Microsatellite instability: new aspects in the carcinogenesis of colorectal carcinoma.

Very recently a new molecular mechanism in the tumorigenesis of colorectal carcinoma has been described which is closely linked to hereditary non-polyposis colonic cancer (HNPCC). Ubiquitous changes in the length of simple repetitive DNA sequences between constitutional and tumour DNA occur in about 90% of cases of HNPCC and in about 15% of cases of non-familial, sporadic colorectal carcinoma. Such microsatellite instabilities have been shown to be the phenotypical marker of mutations in the human homologues of prokaryotic mismatch repair genes (MutS, MutL, MutH). These data provide crucial new tools in the detection of patients at high risk of developing colon cancer and other HNPCC-related carcinomas. In addition, these developments provide new insights into a new, presumably primary event in oncogenesis, i.e. the occurrence of mutations in genomic stability genes leading to an increased cellular mutation rate ("mutator phenotype") and thus to cancer.

The epidemiology of testicular cancer in upstate New York.

In a study of 250 cases of cancer of the testis and of neighborhood- and age-matched controls in upstate New York in 1977-1980, the authors found that risk was enhanced by possession of a number of traits associated with exposure of the testis to heat; occupational exposures to fertilizers, phenols, and fumes or smoke; and trauma to the testis. Risk was also increased for characteristics related to congenital and developmental aberrancies and testis-related abnormalities, e.g., low sperm count, fertility problems, atrophic testis, and cryptorchidism. Several of these risk factors were statistically significant in a multiple regression model that adjusted for all other significant traits, age, and education.

Histopathologic review of salivary gland tumors in childhood.

During the 58-year period from 1928 through 1986, 80 patients 18 years of age or younger were treated or seen in consultation at Children's Hospital, Boston, for an epithelial or nonepithelial tumor of salivary gland origin. Using established criteria, ten (40%) of the 25 epithelial tumors were pleomorphic adenomas and the remaining tumors were classified as histologically malignant growths including mucoepidermoid carcinoma (n = 6), acinic cell carcinoma (n = 5), and adenocarcinoma most likely of duct cell origin (n = 2). Two other carcinomas presented as congenital parotid salivary gland tumors in newborns and were considered to have biphasic composition including both epithelial and myoepithelial cells, with the latter type predominating. There was only one tumor-related death due to metastases among the 15 children with malignant epithelial tumors (7%); four other patients experienced a local recurrence of tumor (27%). Of the 55 nonepithelial tumors, capillary hemangioma was the most common and showed distinct predilection for female infants with localization in the left parotid gland. The histologic spectrum of primary salivary gland tumors in infancy and childhood is distinctive and merits careful correlation with therapeutic strategies.

Unsuspected adrenal masses in the neonate: adrenal cortical carcinoma and neuroblastoma. A report of two cases.

Masses involving the adrenal in the neonate are most commonly due to hemorrhage. The literature involving the neonatal adrenal reflects this propensity. Although there have been reports of newborns with neuroblastoma [1, 2] and other tumors [3], which are more common in older children, ultrasonographic descriptions of masses involving the adrenal secondary to such tumors are rare [1]. Within a 6-month span we have discovered a clinically unsuspected adrenal carcinoma and adrenal neuroblastoma.

Congenital and neonatal malignant tumors. A 28-year experience at Children's Hospital of Los Angeles.

Fifty-one cases of congenital and neonatal malignant tumors were collected from the Children's Hospital of Los Angeles Department of Pathology files and reviewed. The study covered a 28-year period, 1958-1985. Thirty (59%) of the patients died. The types, incidence, clinical features, and behavior of neoplasms occurring in the neonate were different from those seen in older children and adolescents. Moreover, the response to therapy was also dissimilar. Leukemia and neuroblastoma were the most frequent malignancies and were responsible also for the largest number of deaths.

Perinatal (congenital and neonatal) neoplasms: a report of 110 cases.

One hundred ten congenital and neonatal tumors encompassing a 25-year period are described and compared with similar published cases. Forty percent are classified as histologically malignant, and 65% of neonates with malignancies died. The types, frequency, and clinical features of neoplasms encountered in the perinatal period are markedly different from those observed in older children and adolescents. Their biological behavior and response to therapy are also dissimilar. Leukemia was responsible for the largest number of deaths followed by neuroblastoma and brain tumors.