Primary thyroid biphasic synovial sarcoma and synchronous papillary carcinoma: report of a remarkable case.

Synovial Sarcoma (SS) is the fourth most common soft tissue sarcoma, characterized by translocation t(X;18) (p11.2;q11.2). Although its histological features have been extensively described, this entity is characterized by a wide morphological spectrum so that the recognition can be very challenging at atypical anatomical localization, like the thyroid. We describe a case of a 42-ys-old female patient complaining a cervical swelling due to left intrathyroid nodule, measuring 35 mm in its greatest dimension. A Fine Needle Aspiration Cytology (FNAC) was performed and diagnosis of indeterminate neoplastic lesion, indefinite whether primary or metastatic, was formulated. After complete thyroidectomy, the histological picture of the nodule was characterized by a dual cellular population: several glandular structures composed by columnar cells with clear cytoplasm were embedded in a highly cellular stroma composed of spindle-shaped elements. Immunohistochemistry and molecular biology confirmed the morphological suspicion of SS identifying the fusion transcript SYT-SSX1 and thus ruling out several differential diagnoses which include more common thyroid malignancies. Moreover a synchronous papillary microcarcinoma was detected in the controlateral lobe.This case is noteworthy since it describes the synchronous presence in the thyroid of two completely different malignancies, the first one belonging to the soft tissue neoplasm category and the other one originating from the thyroid follicular epithelium.

Glial choristoma of the ventral part of the tongue: first report in an elderly patient.

INTRODUCTION: The aims of this report are to illustrate the first case of glial and adipose tissue choristoma at the ventral part of the tongue in an elderly patient, to discuss the possible differential diagnoses and to speculate about its pathogenesis. CASE REPORT: A 65-year-old female was admitted to our hospital with a swelling at the base of the tongue. MRI revealed an oval lesion with indistinct borders without contrast enhancement. The patient underwent surgical complete excision and grossly, the specimen consisted of a gray-white mass measuring 25 mm in its great diameter. Microscopically the lesion contained fibrocollagenous stroma, mature adipose tissue and mature astrocytes. In the absence of cellular atypia, mitoses and necrosis a diagnosis of adipose and glial choristoma was performed. The patient is healthy 18 months postoperatively. DISCUSSION: Choristomas are cohesive tumor-like masses histologically composed by normal tissue occurring in an unusual anatomical location and mainly affecting children during the first years of life. Glial choristomas are considered malformations of the central nervous system and their localization in the tongue is exceptional. However they carry a favourable prognosis so it is of paramount importance to histologically diagnose them correctly.

Solitary thyroid metastasis from colon cancer: fine-needle aspiration cytology and molecular biology approach.

Thyroid gland is one of the most vascularized organs of the body, nevertheless clinical and surgical series report an incidence of secondary malignancies in this gland of only 3%. Colorectal carcinoma metastatic to the thyroid gland is not as uncommon as previously believed, infact the number of cases seems to be increased in recent years due to the more frequent use of fine-needle aspiration cytology (FNAC) guided by ultrasonography. Although kidney, breast and lung metastases to the thyroid are frequent, metastasis from colon cancer is clinically rare with 52 cases reported in the literature in the last 5 decades and three cases described as solitary thyroid metastasis from the colon cancer without any other visceral metastases. To the best of our knowledge, we report the fourth case of solitary, asymptomatic thyroid metastasis from colon cancer without involvement of other organs. We discuss the importance of FNAC to detect metastatazing process as a compulsory step of the diagnostic and therapeutic management algorithm, combined with a molecular biology approach. A review of the last 5 decades literature, to update the number of cases described to date, is also included.

Intestinal tuberculosis: a diagnostically-challenging case misdiagnosed as Crohn's disease at colorectal biopsy.

The clinical presentation of two different digestive diseases such as Crohn's disease and intestinal tuberculosis may be so similar to induce a delay in correct diagnosis and appropriate treatment (immune suppression versus antibiotic therapy). Herein, we describe the case of a young man from Eastern Europe who came to our observation complaining of clinical symptoms initially misdiagnosed as an inflammatory bowel disease. It is important to keep in mind the possibility of an active tubercular disease, particularly in patients coming from countries endemic for the disease. Morphological findings of sarcoid-like granulomas at biopsy is not enough for a conclusive diagnosis of Crohn's disease, and tuberculosis should be ruled out on the basis of clinical information, laboratory tests and radiological imaging.

Leiomyomatosis peritonealis disseminata: pregnancy, contraception and myomectomy of its pathogenesis.

Leiomyomatosis peritonealis disseminata (LPD) is a rare smooth muscle tumour characterized by multiple small nodules on the omentum and peritoneal surface, composed of benign smooth muscle cells with minimal mitotic activity, frequently admixed with decidual cells. The possible pathogenetic mechanisms include hormonal dysfunction, differentiation of subperitoneal mesenchymal stem cells, myofibroblastic metaplasia and genetic and iatrogenic causes (resection of myomas during laparoscopic surgery). Diagnosis is easily made on biopsy specimens. Reduction of oestrogen exposure, surgical castration or gonadotrophin releasing hormone agonists are generally sufficient to cause regression of LPD. We report a case of an asymptomatic 36-year-old pregnant woman with long-term use of oral contraceptives, and previous myomectomy, who had a mass of uncertain origin which was, histopathologically, diagnosed as leiomyomatosis peritonealis diffusa with foci of ectopic decidua. Ectopic decidua was also present in a pelvic lymph node. To the best of our knowledge, this is the first case of LPD containing foci of ectopic decidua in a pregnant woman with a past history of myomectomy and use of oral contraception for three years; ectopic decidua was also detected in a pelvic lymph node.

Role of biopsy in low-grade laryngeal chondrosarcoma: report of two cases.

Laryngeal chondrosarcomas are rare tumours that account for less than 1% of all sarcomas and originate principally from the crycoid cartilage. We report two cases: the former arising from thyroid cartilage in an 85-year-old male presenting with a palpable neck mass and hoarseness, dyspnoea and dysphagia; the other in a 54-year-old male with a mass growing from crycoid cartilage, who underwent biopsy followed by total laryngectomy. We discuss the peculiarity of the site of origin and the role of biopsy, the clinical presentation of the former case and the diagnostic and therapeutic procedures of the latter. Since it is a rare form of sarcoma arising in the larynx, we discuss the role of biopsy as a crucial although still controversial diagnostic tool.

A solitary polypoid gastric metastasis 20 years after renal cell carcinoma: an event to be considered, and a brief review of the literature.

BACKGROUND: The incidence of gastric metastasis is 2.6%. Although all primary neoplasms can metastasize to the stomach, most originate from melanoma or breast and lung cancer. Their most common endoscopic appearance is a "volcano-like" polypoid mass covered by normal mucosa that may show a central ulceration. Renal cell carcinoma, clear cell type, is known to spread hematogenously, and isolated metastasis to the stomach is a rare event. CASE PRESENTATION: In this report, we describe a gastric recurrence of RCC, clear-cell type, in a 80-year-old patient who had undergone nephrectomy 20 years before. We also performed a brief review of the literature to update the number of cases described to date. CONCLUSION: Metastatic involvement of the stomach should be suspected in any patient with a previous history of renal cell carcinoma, clear cell type, presenting with gastrointestinal symptoms, even if many years after nephrectomy. The peculiarity of our case is due to the very late presentation of the gastric metastasis. Only two cases of very late gastric metastases from RCC, clear cell type, have been described in the literature, to date.

Renal sinus pseudolymphoma in a patient with multiple carcinomas: a case report and a brief review of the literature.

The term pseudolymphoma refers to a heterogeneous group of benign reactive T-cell or B-cell lymphoproliferative processes of diverse causes that simulate lymphoma clinically and histologically but usually undergo spontaneous remission. Its pathogenesis is still unclear. The prognosis is good although some evidence suggests that pseudolymphoma may progress to lymphoma. Pseudolymphoma of the urinary tract is extremely rare. We herein report a case of pseudolymphoma of the renal sinus in a 70-year-old man, associated with a high grade urothelial carcinoma of the bladder and to a prostatic adenocarcinoma (Gleason score 6). A brief review of the literature is included. The kidney showed a well-defined, whitish soft mass which involved the renal sinus. Microscopically, the lesion of the renal sinus consisted of a proliferation of small to medium size lymphocytes (CD20 positive and Bcl-2 negative) sometimes arranged in hyperplastic follicular structures. The diagnosis was confirmed by molecular studies which showed an oligopolyclonal IgH rearrangement. To the best of our knowledge, this is the second case of pseudolymphoma with a complete molecular characterization ever described in the renal sinus and the first one associated with multiple urogenital carcinomas.

Long pedunculated colonic polyp with diverticulosis: case report and review of the literature.

Colonic muco-submucosal elongated polyp is a rare entity (0.39% in an endoscopic polypectomy series). It is an elongated drumstick-shaped lesion characterized by oedematous, loose connective tissue with a dense submucosal layer showing dilation of blood and lymphatic vessels. First described as a polypoid lesion associated with diverticular disease of the sigmoid colon, it was histologically characterized as a separate entity by Kelly in 1991. In that study, the author reported eight cases in which a red or brown mucosal protrusion or polyp were associated with diverticular disease, and described the syndrome as "polypoid prolapsing mucosal folds in diverticular disease". In 1994, Matake et al. described a new entity defined as colonic muco-submucosal elongated polyp. Herein, we describe another case in a 77-year-old woman with abdominal pain, followed by a review of the literature.

Melanoma of the nipple. An additional case.

The nipple is an unusual site of cutaneous melanoma with only few cases described in literature. We herein report an additional case of malignant melanoma arising on the nipple of a 47-year old woman. The nodular, ulcerated lesion was removed surgically and the diagnosis was that of a vertical growth phase melanoma. The melanocytic origin of the tumour was confirmed by immunohistochemistry. The case pursued a poor clinical outcome with distant metastases and death of the patient.

Heterotopic pancreatic tissue in the gallbladder. Two case reports and brief review of the literature.

Heterotopic pancreas tissue in the gallbladder is a rare benign condition with no clinical relevance and found incidentally in most cases. Only 28 cases of heterotopic pancreas are reported until 2007 in the worldwide literature. The preoperative diagnosis is very hard, so that it could be considered in differential diagnosis with other benign and malignant disease of gallbladder and biliary tree. The surgical approach for the excision of a undefined lesion and the histological identification is a correct procedure in suspect case. We report 2 cases of heterotopic pancreatic tissue of the gallbladder.

Lymphoepithelioma-like carcinoma of the endometrium.

Only three cases of lymphoepithelioma-like carcinoma of the endometrium have been reported to date. We present a new case in a 67-year-old woman involving an exophytic mass that caused postmenopausal bleeding. Histologically, undifferentiated carcinomatous areas were intermingled with abundant lymphoid tissue. Epstein-Barr virus was not detected in either neoplastic or lymphoid cells.

Primary linitis plastica of the right colon.

A case of primary linitis plastica of the colon is presented. This case is of interest for three reasons: the site of origin in the right colon (80% of cases reported develop distally to the splenic flexure), a biopsy previously taken from the mucosa demonstrated the presence of a signet ring cell carcinoma (endoscopic biopsies do not provide a conclusive diagnosis in the majority of cases reported) and hyaline with sparse amyloid nodules were detected in the extensive, dense fibrous tissue intermingled with tumour cells.

Bronchial fibrolipomatous hamartoma associated with peculiar unusual bronchial lesions of the peripheral lung.

Multiple hamartomas of the lung are uncommon. The few cases described to date are multiple parenchymal hamartomas or multiple endobronchial and parenchymal hamartomas. Herein, an original case is described which is characterized by the association between an endobronchial hamartoma and multiple, unusual, bronchial lesions of the peripheral lung.

A rare case of primitive neuroectodermal tumor in the soft tissues of the hand.

Primitive neuroectodermal tumors of the hand are extremely rare, and only 5 cases have been described to date. Here, we report a case of a 35 year-old male who presented a progressive swelling on the palm of his right hand. Clinical examination showed a solid mass and X-ray revealed a soft tissue mass. Magnetic resonance imaging (MRI) revealed infiltrated interosseous muscles, metacarpal bones and tendons. The patient underwent surgery and the lesion was removed. On the basis of morphological, immunohistochemical and molecular biology findings, a diagnosis of primitive neuroctodermal tumor was made.

Vulvar cancer and HPV infection: analysis of 22 cases.

Vulvar cancer represents about 4% of all neoplasms of the female genital tract. Two different pathways give rise to vulvar carcinoma, a HPV-dependent pathway, and a pathway linked to inflammatory dermatoses. The aim of the present study was to evaluate the impact of HPV infection in the pathogenesis of vulvar cancer by HPV genotyping in 22 cases of squamous cell carcinoma. Our results provides further evidence that vulvar squamous cell carcinoma is a multifactorial disease that may develop though different pathways, very often in the presence of classic or differentiated vulvar intraepithelial neoplasia in 16 out 22 cases.

The use of chemical peelings in the treatment of different cutaneous hyperpigmentations.

BACKGROUND: Several chemical agents including hydroquinone, retinoic acid, and azelaic acid are currently used in the treatment of cutaneous hyperpigmentations. Recently chemical peelings with kojic acid, glycolic acid, and trichloroacetic acid, either alone or in combination, have been introduced for treatment of hyperpigmentations. OBJECTIVE: The purpose of our study was to evaluate the efficacy of trichloroacetic acid as well as glycolic acid associated with kojic acid in the treatment of cutaneous hyperpigmentations. METHODS: Twenty patients with diffuse melasma were treated with a solution composed of 50% glycolic acid and 10% kojic acid whereas 20 patients with localized hyperpigmentations (lentigo) were treated with 15%-25% trichloroacetic acid. RESULTS: Complete regression of diffuse melasma was observed in 6 of 20 patients (30%), a partial regression in 12 of 20 patients (60%), and no regression in 2 of 20 patients (10%) treated with 50% glycolic acid and 10% kojic acid. Complete regression of localized hyperpigmentations was observed in 8 of 20 patients (40%), a partial regression in 10 of 20 patients (50%), and no regression in 2 of 20 patients (10%) treated with 15-25% trichloroacetic acid. CONCLUSIONS: Based on our findings, both peelings can be considered effective in the treatment of cutaneous hyperpigmentations.

Analysis of microsatellite instability and loss of heterozygosity in keratoacanthoma.

We analyzed microsatellite instability (MSI) and loss of heterozygosity (LOH) at 17 microsatellite markers located on chromosomes 2p, 3p, 5q, 6q, 9p, 9q, 17p and 18q in 19 randomly selected keratoacantomas (KAS), in one cutaneous lesion that histologically could not unequivocally be differentiated from squamous cell carcinoma, and in one patient with multiple KAs of longstanding duration. The goals of our study were to determine whether, in a similar manner to some visceral carcinomas, genomic instability could be detected in KAs and to clarify whether molecular analysis might be useful to further characterize KA. MSI was observed in 2 of 21 cases (9.5%) at 5 of 17 loci examined. In one patient with a solitary KA, the presence of MSI and a family history of visceral malignant tumours suggested that the patient might have belonged to a family with Muir-Torre syndrome. In one other MSI+ KA, a definite differential diagnosis in relation to squamous cell carcinoma could not be established. In addition, one sample displayed LOH at 2 of 17 loci analysed whereas in the patient with multiple KAs, LOH at one locus was the only alteration found. In conclusion, the low frequency of MSI and LOH detected in our study suggests that these genetic events are uncommon in KA unless it is associated with a familial disease (e.g. Muir-Torre syndrome) or it has more aggressive histological features.

Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome.

Muir-Torre syndrome (MTS) is an autosomal dominant disorder characterized by the presence of at least one sebaceous gland tumour and a minimum of one visceral malignant tumour. Recently, microsatellite instability (MSI) has been detected in the tumours of patients with MTS and germline mutations of the hMSH2 and hMLH1 mismatch repair genes have been detected in some patients with this syndrome. To determine if the tumours of patients with MTS have widespread genomic instability and whether loss of heterozygosity (LOH) in the chromosomal regions containing hMSH2 and hMLH1 is detectable, MSI and LOH were examined at 10 dinucleotide repeats on chromosomes 2p, 3p, 5q, 9p, 17p and 18q. Data were obtained from six sebaceous gland tumours and two adenocarcinomas of the colon from three patients of two Muir-Torre families. MSI was detected at more than half of the loci tested in all sebaceous tumours examined. In addition, there was LOH at D2S119 in one sebaceoma and one sebaceous carcinoma from one patient. The colon carcinomas from two patients showed MSI at five of the 10 loci analysed. These results show that widespread MSI is a feature of tumours in patients with MTS. In addition, the finding of LOH at D2S119, a marker located in the vicinity of hMSH2, in sebaceous tumours of one patient indicates that this gene may have a pathogenetic role in this patient.