Subject(s)
Hearing Loss, Sensorineural/genetics , Immunologic Deficiency Syndromes/genetics , Lymphohistiocytosis, Hemophagocytic/genetics , Myosin Heavy Chains/genetics , Myosin Type V/genetics , Nervous System Diseases/genetics , Piebaldism/genetics , Pigmentation Disorders/genetics , Child , Child, Preschool , Codon, Nonsense , Egypt/epidemiology , Female , Genotype , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/epidemiology , Hearing Loss, Sensorineural/pathology , Humans , Hypopigmentation/diagnosis , Hypopigmentation/etiology , Hypopigmentation/genetics , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/etiology , Infant , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/etiology , Male , Nervous System Diseases/diagnosis , Nervous System Diseases/etiology , Pedigree , Phenotype , Piebaldism/diagnosis , Piebaldism/epidemiology , Piebaldism/pathology , Pigmentation Disorders/diagnosis , Pigmentation Disorders/epidemiology , Pigmentation Disorders/pathology , PrevalenceABSTRACT
INTRODUCTION : Les tumeurs oncocytaires (TO) de la thyroïde regroupent les adénomes et les carcinomes. La distinction entre malignité et bénignité constitue une difficulté de taille sur le plan histologique. De cet aspect découlent des contraintes dans l'attitude thérapeutique à adopter. L'objectif du travail était de déterminer les particularités cliniques, pathologiques et pronostiques des TO de la thyroïde et dégager les facteurs prédictifs de malignité. MÉTHODES : Etude descriptive, rétrospective portant sur 35 cas de TO de la thyroïde opérés entre 2007 et 2015. Les prélèvements ont été étudiés au service d'anatomopathologie. Une étude statistique a été réalisée à la recherche des facteurs prédictifs de mali¬gnité.RÉSULTATS : L'âge moyen des patients était de 53 ans. Le sex-ratio a été de 0,09. Le traitement était chirurgical dans tous les cas. L'examen anatomopathologique définitif a confirmé le diagnostic de 26 adénomes oncocytaires, six carcinomes papillaires on-cocytaires et trois carcinomes vésiculaires oncocytaires. La taille moyenne de la tumeur était de 38,1 mm (10-120). Une irathérapie post-opératoire a été proposée pour les carcinomes. En analyse univariée, les facteurs prédictifs de malignité étaient : l'âge supé¬rieur à 55 ans, la consistance dure, les limites floues, la double vascularisation anarchique, le caractère hypoéchogène du nodule, les microcalcifications, la colloïde sombre et dense, la capsule épaisse et la thyroïdite associée. En analyse multivariée, aucun de ces facteurs n'était prédictif de malignité.CONCLUSION : Les tumeurs oncocytaires de la thyroïde représentent une entité anatomo-clinique distincte. La détermination des facteurs prédictifs de malignité est essentielle pour adapter la prise en charge thérapeutique
Subject(s)
Adenoma , General Surgery , Histology , Thyroid Carcinoma, Anaplastic , TunisiaABSTRACT
Mixed epithelial and stromal tumor of the kidney is a recently described neoplasm that predominantly affects perimenopausal women. Few cases with malignant features have been reported. Here, we report the case of malignant mixed epithelial and stromal tumor of the kidney with sarcomatous transformation arising in a 27-year-old female. She presented with abdominal discomfort. Computed tomography of the abdomen revealed a large compressive mass arisen from the left kidney with solid and focal cystic components. The patient underwent left radical nephrectomy. Histologic sections showed benign and malignant components. The benign component consisted of multiple tubules and variably sized cysts lined by benign epithelium. The malignant component was composed of undifferentiated cellular spindle cell sarcoma. By immunohistochemical studies, the epithelial component was positive for cytokeratins and epithelial membrane antigen (EMA). The stromal component displayed strong immunohistochemical expression of vimentin, CD99, bcl2; and was negative for cytokeratins, desmin, SMA, S-100, estrogen receptor (ER) and progesterone receptor (PR). Analysis by reverse transcriptase polymerase chain reaction (RT-PCR) failed to identify the SYT-SSX1 or SYT-SSX2 fusion transcripts characteristic of synovial sarcoma.
Subject(s)
Kidney Neoplasms , Mixed Tumor, Malignant , Adult , Female , Humans , Kidney Neoplasms/pathology , Kidney Neoplasms/surgery , Mixed Tumor, Malignant/pathology , Mixed Tumor, Malignant/surgery , Rare DiseasesABSTRACT
PURPOSE: Also called acute febrile neutrophilic dermatosis, Sweet's syndrome is an inflammatory disorder with a prominent cutaneous expression. It is characterized by a variety of manifestations, clinical and histological findings. The objective of this study was to describe their clinical, pathological and therapeutic characteristics. METHODS: We report on a series of 47 patients who presented a Sweet's syndrome, collected in our institution in Tunis between 1997 and 2011. RESULTS: The patient population consisted of 11 men and 36 women. The mean age was 47 years with extreme ranging from 28 to 74 years. An associated disorder was observed in ten patients: inflammatory disease (three cases), inflammatory bowel disease (two cases), tuberculosis (three cases) and diabetes (three cases). One case of pregnancy was observed. Cutaneous lesions consisted of erythematous plaques or nodules. Lesions were located mainly on the upper or lower extremities. All biopsy specimens demonstrated a dermal infiltrate composed predominantly of neutrophils. Fibrinoid necrosis and intramural inflammation were observed in eight cases. CONCLUSION: The skin disorder can precede, follow, or appear concurrent with the diagnosis of an associated disease which requires careful surveillance.
Subject(s)
Sweet Syndrome/pathology , Adult , Aged , Anti-Infective Agents/therapeutic use , Autoimmune Diseases/complications , Crohn Disease/complications , Diabetes Complications , Female , Glucocorticoids/therapeutic use , Gout Suppressants/therapeutic use , Histamine Antagonists/therapeutic use , Humans , Male , Middle Aged , Pregnancy , Pregnancy Complications , Retrospective Studies , Sweet Syndrome/complications , Sweet Syndrome/drug therapy , Tuberculosis/complicationsABSTRACT
INTRODUCTION: Spindle cell oncocytoma of the adenohypophysis is a rare tumour recently reported by Roncaroli et al. in 2002. This tumour is considered a grade I tumour by the World Health Organization. CASE PRESENTATION: We describe what is, to the best of our knowledge, the 14th case of its kind in the literature. A 45-year-old African woman presented clinical and radiological findings related to a nonfunctioning pituitary adenoma. The diagnosis was made on the basis of histological and immunohistochemical findings. CONCLUSION: The purpose of this work is to report a rare pituitary tumour and to describe its histological and immunohistochemical features, which were characterized by the expression of thyroid transcription factor 1 antigen by tumour cells. This fact could support the theory of a possible common origin of these tumours in pituicytomas. In fact, thyroid transcription factor 1 is considered to be a specific marker of pituicytes.
ABSTRACT
Cryptococcus neoformans is a ubiquitous yeast that causes opportunistic infections mainly involving the central nervous system. Cryptococcoma is a rare entity characterized by a solid, tumor-like mass that is usually located in the cerebral hemispheres or cerebellum. Spinal involvement is rare with only 6 cases reported in literature. Bony involvement is also a rare occurrence that has been observed in only 5 to 10% of reported cases of infection by Cryptococcus neofomans. The purpose of this report is to describe a case of paraplegia due to cryptococcal spondylitis with spinal cord involvement in an HIV-seronegative patient with a history of systemic sarcoidosis. Diagnosis was achieved by histological examination of the surgical specimen.
Subject(s)
Cryptococcosis/diagnosis , Fever/microbiology , Paraparesis/microbiology , Spondylitis/microbiology , Aged , Female , Humans , Magnetic Resonance Imaging , TunisiaABSTRACT
Amoeboma is an inflammatory mass of the colon. It can be an inaugural symptom and thus pose the problem of differential diagnosis with colon cancer. The purpose of this report is to describe the case of a 43-year-old patient who presented with acute abdomen. Physical examination revealed a perforated circumferential mass in the sigmoid colon. Based on a presumptive diagnosis of colonic cancer complicated by perforation, segmental colectomy was performed. Histological examination of the surgical specimen demonstrated colonic amoeboma. The patient was treated using metronidazole. Although rare, amoeboma must be considered in differential diagnosis of cancer of any colonic mass.
Subject(s)
Colon, Sigmoid/pathology , Dysentery, Amebic/diagnosis , Intestinal Perforation/etiology , Sigmoid Diseases/diagnosis , Sigmoid Diseases/parasitology , Antiprotozoal Agents/therapeutic use , Colectomy , Colon, Sigmoid/surgery , Dysentery, Amebic/therapy , Humans , Intestinal Perforation/diagnostic imaging , Intestinal Perforation/surgery , Male , Metronidazole/therapeutic use , Middle Aged , Necrosis , Radiography , Sigmoid Diseases/therapyABSTRACT
The purpose of this report is to describe a case involving Kaposi sarcoma as the inaugural manifestation of HIV infection at the full-blown AIDS stage. The patient was a 59-year-old Tunisian man who presented with profuse subcutaneous nodules and multiple lymph nodes. Treatment was based on antiretroviral therapy in association with radiotherapy.
Subject(s)
Acquired Immunodeficiency Syndrome/diagnosis , Sarcoma, Kaposi/etiology , Humans , Male , Middle Aged , Sarcoma, Kaposi/pathology , Skin Neoplasms/etiology , Skin Neoplasms/pathology , Tongue Neoplasms/etiology , Tongue Neoplasms/pathologyABSTRACT
Plasmocytoid urothelial carcinoma is a rare subtype of tumour of the urinary bladder. Its clinical and histopathological features have not been well characterized. There are few reports of this type of tumour. We report a case of 65-year-old man who was operated in our department for bladder tumour. The pathological diagnosis was high-grade urothelial carcinoma with plasmocytoid component. The patient died shortly thereafter from liver and bone metastasis.
Subject(s)
Carcinoma, Transitional Cell/pathology , Urinary Bladder Neoplasms/pathology , Aged , Biomarkers, Tumor/analysis , Carcinoma, Transitional Cell/metabolism , Carcinoma, Transitional Cell/surgery , Fatal Outcome , Humans , Immunohistochemistry , Male , Urinary Bladder Neoplasms/metabolism , Urinary Bladder Neoplasms/surgeryABSTRACT
The malignant potential of hamartomatous polyps in Peutz-Jeghers' (PPJ) syndrome has been debated. Although it is a very rare event, these polyps can become malignant, as demonstrated by this report. One case of colonic adenocarcinoma associated with Peutz-Jeghers' syndrome is described in a 62-year-old woman. The patient had colonic carcinoma which developed in a hamartomatous polyp. The malignant development of this colonic hamartomatous polyp arising in Peutz-Jeghers' syndrome was pathologically confirmed at surgery. This case also shows a sequence of hamartoma-dysplasia-carcinoma in a hamartomatous polyp without adenomatous changes. This suggests that hamartomatous polyps in Peutz-Jeghers' syndrome may develop into adenocarcinoma and may be a precursor of gastrointestinal carcinomas. STK 11 is a tumor suppressor gene regulating the development of hamartomas, and this somatic mutation promotes gastrointestinal cancer at later stages in Peutz-Jeghers' syndrome.
Subject(s)
Adenocarcinoma/pathology , Cell Transformation, Neoplastic/pathology , Colonic Neoplasms/pathology , Colonic Polyps/pathology , Hamartoma/pathology , Peutz-Jeghers Syndrome/complications , Adenocarcinoma/surgery , Colonic Neoplasms/surgery , Female , Humans , Middle AgedABSTRACT
Angiomyofibroblastoma is a rare, benign, mesenchymal tumour occurring mainly in the female genital tract, and more rarely, in males. We present a new case of angiomyofibroblastoma arising in the left inguinal region of an 83-year-old man. The tumour was well circumscribed and measured 60 mm in maximum dimension. On microscopic examination, the tumour was composed of small spindle cells without atypia within a fibrous and myxoid stroma where scattered mononuclear inflammatory cells were found around the capillaries of the stroma. Immunohistochemical studies showed positive staining of tumour cells for vimentin, desmin, smooth muscle actin and CD34, and negative staining for PS100 and oestrogen and progesterone receptors. These histological findings are consistent with angiomyofibroblastoma. The patient was followed up for 4 years without recurrence.
Subject(s)
Angiomyoma/diagnosis , Diagnostic Errors , Genital Neoplasms, Male/diagnosis , Leiomyoma/diagnosis , Aged, 80 and over , Angiomyoma/pathology , Angiomyoma/surgery , Genital Neoplasms, Male/pathology , Genital Neoplasms, Male/surgery , Hernia, Inguinal/diagnosis , Humans , Leiomyoma/pathology , Leiomyoma/surgery , MaleABSTRACT
OBJECTIVE: To assess the association between the common missense variant, Y64R, in the gene encoding the beta 3-adrenergic receptor, ADRB3, and intermediate phenotypes related to obesity and NIDDM in Canadian Oji-Cree. RESEARCH DESIGN AND METHODS: We determined genotypes of the ADRB3 Y64R polymorphism in 508 clinically and biochemically well-characterized adult Oji-Cree, of whom 115 had NIDDM. We tested for associations with multivariate analysis of variance. RESULTS: We found the ADRB3 R64 allele frequency to be 0.40 in this population, which is the highest yet observed in a human population. Furthermore, 15% of subjects were R64/R64 homozygotes, compared with a virtual absence of homozygotes in European study samples. However, we found no statistically significant associations of the ADRB3 Y64R genotype either with the presence of NIDDM, with indexes of obesity, or with intermediate quantitative biochemical traits related to NIDDM. CONCLUSIONS: Despite the very high frequency of the ADRB3 R64 allele in this sample of aboriginal people, it was not associated with any metabolic phenotype. This suggests that the ADRB3 R64 allele is probably not a major determinant of obesity or NIDDM in these aboriginal Canadians.