Regional portal hypertension revealing malignant adrenal cortical carcinoma]

The authors report a rare case of regional portal hypertension secondary to splenic vein obstruction by left adrenal carcinoma metastasis. They review the principal literature data concerning regional portal hypertension and adrenal cortical carcinoma.     

Exophthalmos and blindness disclosing an ethmoidal-maxillary malignant non-Hodgkin's T-cell lymphoma. Apropos of a case]

BACKGROUND: We report a case of non-Hodgkin's malignant lymphoma of the cervicofacial region revealed by unilateral exophthalmos and blindness, an unusual mode of expression. CASE REPORT: A 40-year-old man with a 4-month history of diabetes mellitus had suffered from exophthalmos and blindness of the right eye for 20 years. Physical examination showed a homolateral hemifacial tumefaction and ophthalmoplegia. The right ocular fundus showed papillar edema and non-proliferative diabetic retinopathy. The left eye was normal. The otolaryngology explorations revealed a voluminous tumor in the anterior nasal cavity and in the cavum. Two biopsies were performed. Histology reported non-Hodgkin's T-cell lymphoma. Orbitocerebral and cervicofacial computed tomography visualized the aggressive ethmoidomaxillary extension with intraorbital and intracranial involvement. Chemotherapy (CHOP) combined with radiotherapy led to tumor regression and involution of the exophthalmos. Diagnostic difficulties, management and prognosis are discussed.     

Testicular Synovial Sarcoma:A Case Report

This paper reports a case of testicular synovial sarcoma with molecular genetic analysis.A 24-year-old male presented with painless scrotal mass.Ultrasonography showed a heterogeneous mass of 66 mm×34 mm in size involving the inguinal region.Histological examination of a surgical biopsy showed a gradeⅢmonophasic growth pattern of spindle cell proliferation.Immunohistochemical analyses indicated positive staining for pancytokeratine and epithelial membrane antigen.Cytogenetic analysis showed the presence of CYT-SSX1 mutation,and CT scan showed non-specific pleural micro-nodules with a size of 7.5 mm.The patient had an extended left orchidectomy but was lost to follow-up for 1 year.A local recurrent scrotal mass of 32 mm×25 mm,multiple inguinal lymph nodes,and increased pleural nodules,which were confirmed by histological examination,were treated with three cycles of adriamycine and ifosfamide chemotherapy,surgical resection,and radiotherapy with complete response.After 3 months,the patient developed local recurrence and pulmonary metastases that did not respond to second-line chemotherapy based on gemcitabine and paclitaxel.The patient had dyspnea at the time of this writing and chest pain,and is under third-line chemotherapy based on Deticene after 30 months of following up.This patient died on November 16,2012 after a resperatory failure and malignant plural effusion. Synovial sarcoma should be considered in the differential diagnosis of soft tissue tumor and it should be aggressively treated to improve prognosis.Although our patient has shown numerous factors of bad prognosis,he has had a relatively long survival time.     

The CAG repeat polymorphism of mitochondrial polymerase gamma (POLG) is associated with male infertility in Tunisia

Male fertility largely depends on sperm quality, which may be affected by environmental and genetic factors. Recent data emphasised the implication of the polymorphism of mitochondrial DNA polymerase gamma (POLG) CAG repeats in male infertility. In this report, we explored a possible role of the (POLG) gene polymorphism in male infertility in Tunisian men. The polymorphic CAG repeat in the nuclear POLG gene was studied in 339 male subjects (216 patients with infertility (69 azoospermic, 115 oligoasthenoteratospermic and 32 normospermic) and 123 fertile) after DNA amplification by PCR, followed by genotyping using an automatic sequencer. The heterozygous and the homozygous mutant genotypes (10/ ≠ 10 and ≠ 10/ ≠ 10) were significantly more frequent among infertile patients than among fertile controls (11.2% versus 1.6%, P = 1.3 × 10(-3) and 4.6% versus 0.8%, P = 4.2 × 10(-7) respectively). We also found a significant difference between the frequencies of 10/ ≠ 10 genotype in azoospermic (4.4%) and in oligoasthenoteratospermic (15.6%) infertile patients (P = 2.6 × 10(-2) ). However, the homozygous mutant genotype (≠ 10/ ≠ 10) was seen at similar frequencies in azoospermic, normospermic and oligoasthenospermic men (4.4%, 3.1% and 5.2% respectively). Under our conditions, the findings showed an association between POLG CAG repeat polymorphism and male infertility in Tunisian population.     

Histopathological findings in appendectomy specimens: a study of 24,697 cases

Purpose

Appendicitis is by far the commonest major emergency general surgical operation. Histopathological examination of the appendix is routinely performed.

Methods

This study is a retrospective analysis of 24,697 appendectomies performed from January 2003 to December 2011. Pathological reports were analyzed for the following parameters: age, gender, and pathological diagnosis.

Results

Appendectomy specimens represent 17 % of all pathological reports. Acute appendicitis was present in 19,637 (79.5 %) patients. The perforation rate was 6.3 % and was significantly higher in adult patients. The negative appendectomy rate was 15 % and was significantly higher in female and adult patients. The incidence of negative appendectomies had clearly decreased over the 9-year period distribution. Incidental unexpected pathological diagnoses were noted in 226 (0.9 %) appendectomy specimens. Neoplastic lesions were present in 171 cases (0.7 %); they include carcinoid, adenocarcinoma, and mucinous neoplasms.

Conclusions

Routine pathological examination of appendectomy specimens is expensive. With advances in technology and imaging modalities, the diagnosis of acute appendicitis has improved, with a subsequent significant reduction in negative appendectomy. There are still a number of unusual diagnoses found in appendicectomy specimens supporting the continued use of routine histology.     

Highly Discriminatory Variable-Number Tandem-Repeat Markers for Genotyping of Trichophyton interdigitale Strains

Trichophyton interdigitale is the second most frequent cause of superficial fungal infections of various parts of the human body. Studying the population structure and genotype differentiation of T. interdigitale strains may lead to significant improvements in clinical practice. The present study aimed to develop and select suitable variable-number tandem-repeat (VNTR) markers for 92 clinical strains of T. interdigitale. On the basis of an analysis of four VNTR markers, four to eight distinct alleles were detected for each marker. The marker with the highest discriminatory power had eight alleles and a D value of 0.802. The combination of all four markers yielded a D value of 0.969 with 29 distinct multilocus genotypes. VNTR typing revealed the genetic diversity of the strains, identifying three populations according to their colonization sites. A correlation between phenotypic characteristics and multilocus genotypes was observed. Seven patients harbored T. interdigitale strains with different genotypes. Typing of clinical T. interdigitale samples by VNTR markers displayed excellent discriminatory power and 100% reproducibility.     

Pigmented and polypoid tumor of the pubis

Seborrheic keratosis is a common benign epidermal tumor occurring in patients aged over 50 years. It is located preferentially in the trunk, head and neck. The genital location is rare. We report a case of 59 year‐old‐men presenting a seborrheic keratosis of the pubis.     

Desmoplastic spitz nevus: report of a case and review of the literature

Desmoplastic spitz nevus (DSN) is an uncommon melanocytic lesion. The histologic features of this benign tumour may mimic those of certain benign (dermatofibroma and desmoplastic cellular blue nevus) or malignant (metastatic carcinoma and malignant melanoma) neoplasms. We report the case of a male with a DSN, and also review the clinical characteristics, histologic features and differential diagnosis of this extremely rare lesion. The lesion is identified as an asymptomatic reddish-brown dome-shaped papule on the forearm. Microscopic examination showed a symmetric lesion in the dermis. The neoplastic cells were large and epithelioid-shaped, and were either isolated as individual cells or arranged in small nests in a paucicellular hyalinized stroma. Nuclei were large and vesicular with small nucleoli and no mitoses. Diffuse expression of S100 and the absence of staining with antibodies to melan-A and HMB45 was observed. A diagnosis of DSN with free margins was made. The histologic presentation of this benign lesion mimics both benign and malignant neoplasms. The immunohistochemical profile (S100 positive, HMB-45 negative and cytokeratin negative) may be helpful to differentiate it from other lesions.     

FCGR3B allele frequencies in Tunisians of sub-Saharan origin

Purpose of the studyThe importance of human neutrophil antigens (HNA) in immunogenetics and their involvement in hematologic diseases have accelerated the elucidation of their molecular basis and their allele frequencies distribution has been described in many populations over the world. In this study, our aim was to evaluate the frequency of FCGR3B alleles encoding HNA-1a, 1b and 1c among Tunisians of sub-Saharan origin and to compare them to Tunisian blood donors and to a group from sub-Saharan Africa.Patients and methodsWe typed the DNA of 106 individuals (62 Tunisians of sub-Saharan origin, 33 Tunisian blood donors and 11 from sub-Saharan Africa) for the three FCGR3B alleles by polymerase chain reaction using sequence specific primer (PCR-SSP).ResultsFCGR3B*1, FCGR3B*2 and FCGR3B*3 allele frequencies were respectively 0.347, 0.573 and 0.080 among Tunisians of sub-Saharan origin, 0.379, 0.591 and 0.030 among Tunisian blood donors and 0.318, 0.546 and 0.136 among the group from sub-Saharan Africa.ConclusionThese allele frequencies were similar to those previously reported in other black and white populations. The frequencies found in the two Tunisian groups confirm the intermixing origin from Europe, sub-Africa and Asia of the Tunisian population. Our results provide a database for future studies of the HNA system and associated diseases in Tunisia.