Inflammatory myofibroblastic tumor of the thyroid in its sclerosing subtype: the first case report

Inflammatory myofibroblastic tumor (IMT) is a rare entity. It is usually found in the lung and upper respiratory tract. Its location in the thyroid is exceedingly rare. Only seven cases of IMT of the thyroid were reported in the literature, mostly after the age of 50 years. The predominant histological pattern in all previously reported cases is that of marked plasma cell infiltrate. We report the detailed clinico-pathological and immunophenotypical features of a case of IMT of the thyroid in an 18-year-old girl with a family history of goiter. Our case is unique because it is the first and only known case of IMT of the thyroid in its alternative sclerosing subtype.     

Multiple sebaceous tumors in a 58‐year‐old man with colorectal cancer

The Muir‐Torre Syndrome is a rare genodermatosis, defined by the occurrence of sebaceous neoplasia and internal malignancies and caused by mutations in the mismatch repair gene. We describe the case of 58‐year‐old man who, over the course of several years, had multiple skin lesions and colon cancer. The syndrome was diagnosed using Sanger sequencing, which allowed us to find the causative mutation.     

Association analysis of LCE3C–LCE3B deletion in Tunisian psoriatic population

An association between a common deletion comprising the late cornified envelope LCE3B and LCE3C genes (LCE3C_LCE3B-del) and psoriasis has been reported in Caucasian and Asian populations. To investigate whether this deletion plays a role in the genetic of psoriasis in Tunisian population, we determined the LCE3C_LCE3B-del genotype in 180 Ps patients and 208 healthy controls from different regions of Tunisia. The LCE3B and LCE3C gene variant was determined in the patients through PCR amplification and the SPSS software package. The frequency of the LCE3C_LCE3B-del was similar between patients and healthy controls. Subanalyses by family history revealed that the frequency of LCE3C_LCE3B-del was significantly higher in patients with a positive family history than in control individuals, as well as in individuals with a positive family history versus those without in the case cohort. However, no significant difference was observed between psoriatic patients with no family history and controls. We also evaluated the relationship between LCE3C_LCE3B-del and PSORS1. No significant epistatic effect was observed suggesting that there was no significant epistasis of the two loci in the Tunisian population. Our findings indicate that the LCE3C_LCE3B-del might play a role in familial psoriasis in the Tunisian population.     

Endogenous ochronosis with a fatal outcome

Background:Endogenous ochronosis (EO) is an autosomal recessive inherited disorder where there is incomplete oxidation of tyrosine and phenylalanine due to a lack of the enzyme homogentisic acid oxidase.Objective:We report a singular observation of EO with a fatal outcome.Case Report:We report the case of a 46-year-old man born to consanguineous parents with a medical history of recurrent renal colic and chronic nonspecific arthropathy. On clinical examination, slate blue pigmentation was seen on the cheeks, forehead, and nose, as well as blue-gray patches on all fingernails and bluish discoloration of the gums. Familial investigation revealed that his sister had similar pigmentation on the ears, hands, and fingernails. Histologic examination of a biopsy specimen from a pigmented lesion showed a dermal deposit of an acellular, eosinophilic material without cell reaction. Based on the clinical and histopathologic data, combined with the family medical history, our patient was considered to have EO with mucocutaneous, articular, and renal involvement. Unfortunately, the diagnosis was late because our patient died a few months later of terminal renal failure.Conclusion:Skin signs are the hallmarks of EO and must alert the clinician to look for involvement of vital organs.     

Expression de l’E-cadhérine et de la β-caténine dans les tumeurs urothéliales de la vessie de stade pTa/pT1

Aim

Superficial bladder tumours (stage pTa/pT1) have an unpredictable outcome, and clinical and pathological prognostic factors are insufficient to predict their development. So, more attention was paid to molecular markers. The aim of this study is to assess the expression of E-cadherin and β-catenin in superficial bladder tumours and to correlate their expression with stage, grade and development of tumours.

Materials and methods

This study included 92 pTa/pT1 bladder tumours diagnosed between 2001 and 2003. The median follow-up period was 22.5 months. We have reviewed all the slides and determined the tumour stage according to the TNM-UICC 2002 classification and the tumour grade according to the 1973 and 2004 WHO classification systems. In each case, one tissue block was chosen for immunohistochemical expression of E-cadherin and β-catenin. The expression of these markers was assessed as abnormal if the immunostained tumour cells were less than 90%. This expression was associated with the stage, grade and development of tumours.

Results

An abnormal E-cadherin expression was seen in 69 (75%) cases. We have not found a statistically significant correlation between this expression and tumour stage (P = 0.18), grade WHO 1973 (P = 0.36) and WHO 2004 (P = 0.09), recurrence (P = 0.32) or progression (P = 0.67). Abnormal staining for β-catenin was found in 80 (87%) cases. No significant association was found between β-catenin expression and tumour stage (P = 0.18), grade (WHO 1973 and 2004) (P = 0.3 and 0.9 respectively), recurrence (P = 0.4) or progression (P = 0.87).

Conclusion

The assessment of the immunohistochemical expression of E-cadherin and β-catenin seems to have limited value in common clinical practice.     

Étude clinicopathologique des carcinomes lobulaires du sein dans le Centre tunisien : à propos de 74 cas

Objective

To analyze the epidemiological characteristics and clinicopathologic features of breast lobular carcinomas in the Central Region of Tunisia.

Patients and methods

A retrospective study was carried out on all breast lobular carcinomas cases diagnosed in the Department of pathology, CHU Farhat Hached Sousse (Tunisia) from 1990 to 2005. The demographic, clinical, histological and treatment were analyzed. The probability of survival or recurrence was calculated using the Kaplan-Meier method. Prognostic factors were studied using the log-rank test.

Results

The mean age was 51 years old and half of the patients were postmenopausal. The average clinical tumor size at diagnosis was 49.9 mm. Seventy five percent of the patients were seen at an advanced stage of the disease (stages T3 an T4). The histological diagnosis was based in all cases on preoperative biopsies. It was in most cases the classical form (94.6%), a low histological grade (64.8%) and hormone receptor positive (65.5%). Surgical treatment was performed in 74.3% cases. Overall survival and disease-free survival at 5 years were respectively 94 and 70.9%. No local recurrence was observed after conservative treatment. Metastasis to lymph node, the clinical stage, the histological grade and non-expression of hormone receptors were significant factors influencing disease-free survival.

Conclusion

Our results were compared with data from literature and show that lobular carcinoma is rare, its diagnosis is often difficult and late, surgical treatment and its prognosis do not currently appear to differ from ductal carcinomas.