Ossifying fibromyxoid tumor in the lower extremity mimicking a sebaceous cyst. Case report and literature review.

INTRODUCTION: Ossifying fibromyxoid tumor (OFMT) is an uncommon soft tissue neoplasm, with malignant potential and unclear histogenesis. OFMT exhibits a spectrum of histopathologic features including benign (typical), atypical and malignant subtypes. To the best of our knowledge, about 300 cases have been reported worldwide. We present the first reported case from Qatar. PRESENTATION OF CASE: A 36-year old Egyptian male, with no comorbidities was admitted electively as a day case for excision of left thigh suspected sebaceous cyst under local anesthesia. History, physical examination and soft tissue ultrasound imaging were unremarkable. Intraoperatively, the patient was found to have a hard-calcified mass adhering to the surrounding fascia which was excised en bloc. The histopathology result was of ossifying fibromyxoid tumor. The post-operative course along with 40 months follow-up were uneventful in terms of surgical complications and recurrence. DISCUSSION: OFMT has marked features in terms of cytology. Though it is difficult to diagnose preoperatively, it should be considered in tumors involving soft tissue that demonstrate prominent ossification and calcification. CONCLUSION: OFMT is a rare soft tissue neoplasm, and should be considered as a differential diagnosis in any subcutaneous swelling with a bony component. All OFMT patients should undergo a long course of follow-up to rule out and assess any recurrence or metastasis in the malignant variants.

A Case of Endocrine Mucin-Producing Sweat Gland Carcinoma: Is it Still an Under-Recognized Entity?

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare low-grade sweat gland carcinoma characterized by immunoexpression of neuroendocrine markers and mucin production. It occurs most frequently at the head and neck region with strong predilection to the eyelids. Up to 2013, only few cases have been reported. However, in the following years, the number of cases reported has increased significantly, which indicates an upsurge in awareness and increased recognition of this neoplasm. Herein, we describe another case of EMPSGC in a 78-year-old man who presented with a 6-mm skin lesion at the lower eyelid. We discuss the clinical, histopathologic and immunophenotypic features of the tumor with particular emphasis on molecular features and prognosis.

A case of xanthogranulomatous orchitis and its preoperative diagnostic challenges.

Xanthogranulomatous orchitis (XGO) is an extremely rare inflammatory disease of the testis which can mimic testicular tumors. We report a 42-year-old man who presented with left scrotal swelling for one-month duration associated with pus discharge from the overlying scrotal skin. Scrotal ultrasonography revealed an atrophic heterogenous left testis with scrotal wall collection. Surgical scrotal exploration with left simple orchidectomy was performed. By histopathology, the diagnosis of XGO was rendered. The preoperative diagnosis of XGO can very challenging and the diagnosis mainly relies on histopathologic examination. Adequate pathologic sampling is essential to rule out the possibility of co-existing testicular neoplasms.

Laparoscopic hydrocelectomy of the canal of Nuck in adult female: Case report and literature review.

INTRODUCTION: Among adult females, Hydrocele of Canal of Nuck (HCN) is a very rare condition. The majority of the reported cases of HCN were not conclusively diagnosed until surgery was performed on a suspected inguinal hernia. To the best of our knowledge, this is the first case of laparoscopically operated HCN in adult female in Middle East and North Africa Region, and the fourth such case worldwide. PRESENTATION OF CASE: A 36-year-old female presented with a painful small swelling in the right groin of 3 months duration. The swelling extended to the right labia majora while standing, and disappeared when the patient was in prone position. There was no lymph node enlargement, no other masses in the abdomen, and no swelling in the contralateral side. Ultrasonography was undertaken and the patient was admitted electively for laparoscopic exploration and repair of non-complicated right inguinal hernia. She was known to have dyslipidemia on medications. Further history and physical examination were unremarkable. Intraoperatively it was diagnosed to be right-sided HCN which was excised and repaired by mesh fixation using transabdominal preperitoneal (TAPP) approach. Her follow up course was unremarkable. CONCLUSIONS: This case expands the clinical and intraoperative potential differential diagnosis of adult female groin masses. Surgeons should consider such cases when they observe such swellings intraoperatively. Laparoscopic TAPP approach in such cases is a superior diagnostic and treatment modality.

Repeat liver resection for pure large cell neuroendocrine carcinoma of the gallbladder: a favorable outcome.

BACKGROUND: The pure large cell type is a rare variant of primary neuroendocrine carcinoma of the gallbladder. Few reports have mentioned extended survival. Although a multimodal treatment has been described in the treatment of such rare disease, redo liver resection has not yet been mentioned. CASE REPORT: A 67-year-old lady was found to have poorly differentiated, high grade, pure large cell neuroendocrine tumor of the gallbladder after cholecystectomy for gallstones. After the diagnosis, staging workup showed a lesion in segment IVB/V of the liver, and chromogranin was elevated (982 mcg/L). The patient underwent central inferior hepatectomy and wedge excision of a lesion in segment III (discovered intra-operatively), with hilar lymphadenectomy. Three months after the first liver resection, she developed a new liver lesion II/III and underwent left lateral liver resection. The patient remained disease-free for 4 months following the second liver resection but then developed recurrent liver disease and was started on chemotherapy. Further progression led to multi-organ failure and death at 26 months from initial diagnosis. CONCLUSION: This is the first reported repeat liver resection in such a rare disease that has led to extended overall survival. We suggest that a group of selected patients with this rare malignancy, and liver-limited disease, may benefit from repeated liver resection.

Urothelial Carcinoma In Situ (CIS): New Insights.

Urothelial carcinoma in situ (CIS) is a high-grade noninvasive malignancy with a high tendency of progression. Although it is typically grouped with other nonmuscle invasive bladder cancers, its higher grade and aggressiveness make it a unique clinical entity. Urothelial CIS is histologically characterized by replacement of the urothelium by cells which fulfill the morphologic criteria of malignancy including nuclear pleomorphism, hyperchromasia, prominent nucleoli, and increased numbers of normal and abnormal mitoses. Urothelial CIS may be categorized as primary when it is not associated with any past or present urothelial carcinoma. It is termed as secondary when there is concomitant or previous urothelial carcinoma in the patient. In recent years detailed molecular studies have provided valuable data for intrinsic molecular subclassification of urothelial carcinoma into 2 broad categories namely luminal and basal types with significant implications for prognosis and therapy. Similar studies on urothelial CIS are limited but have provided crucial insight into the molecular basis of CIS. These studies have revealed that urothelial CIS may also be divided into luminal and basal subtypes, but luminal subtype is much more common. It has also been shown that in many cases, luminal type of urothelial CIS may undergo a class switch to basal type during progression to an invasive carcinoma. Additional studies may be required to confirm and further elaborate these findings.

Intrinsic Molecular Subclassification of Urothelial Carcinoma of the Bladder: Are We Finally there?

Bladder cancer is a highly prevalent disease throughout the world usually encountered in older patients, and associated with substantial morbidity, mortality, and cost. The treatment of bladder cancer has remained unchanged for the last several decades. However, in recent years the availability of comprehensive genomic data from The Cancer Genome Atlas and other large projects have considerably improved our understanding of the pathogenesis of these tumors. These studies demonstrated that bladder cancers can be grouped into 2 broad categories namely basal and luminal molecular subtypes with recognizable subgroups in each of these categories. Clinical data suggest that invasive basal cancers are more sensitive to neoadjuvant chemotherapy (NAC), such that most patients with basal cancers who are aggressively managed with NAC have excellent outcomes. Patients with luminal cancers do not appear to derive much clinical benefit from NAC, but some may appear to be sensitive to anti-programmed death-ligand 1 (PDL1) antibodies and possibly other immune checkpoint inhibitors. It is hoped that future studies will also identify biomarkers such as immunohistochemical markers which may be used to predict therapeutic response of these tumors. This will contribute substantially toward efficient and cost-effective diagnosis and management of these neoplasms.

Cystic poorly differentiated squamous cell carcinoma of the scalp, a rare scalp tumor: Case report and literature review.

INTRODUCTION: Cutaneous cystic lesions have broad differentials ranging from common benign entity to rare malignant lesions. Clinical evaluation of the lesion is the key to differentiation, as some rare malignant entities may simulate benign lesions. A high index of suspicion should be maintained for any aggressive behavior, which may require more thorough evaluation, including histopathology and radiographic imaging studies. We report a rare case of cystic poorly differentiated squamous cell carcinoma (CPDSCC) of the scalp. CASE PRESENTATION: We report a case of a 37-year-old Filipino expatriate male who presented with a scalp swelling which had been gradually increasing in size for four months and was operated upon with a working diagnosis of sebaceous cyst. On post-op excisional biopsy, it turned out to be poorly differentiated cystic squamous cell carcinoma of the scalp. On further workup, no metastasis or other primary was found. Complete re-excision of the lesion with no evidence of residual tumor was achieved. Long-term follow-up was lost, as the patient left for his native country. CONCLUSION: Though cystic cutaneous lesions are very commonly encountered in clinical practice, high suspicion for malignancy should be maintained if the lesion shows any aggressive behavior. Prompt investigation should be done before surgery to determine the nature of the disease and the most effective management for the patient. Poorly differentiated cystic squamous cell carcinoma should also be considered in the differential diagnosis of cystic cutaneous lesions show aggressive behavior.

Prostate carcinoma with amphicrine features: further refining the spectrum of neuroendocrine differentiation in tumours of primary prostatic origin?

AIMS: The current World Health Organization classification categorises high-grade neuroendocrine (NE) carcinomas of the prostate into small-cell and large-cell types. A distinct form of carcinoma showing synchronous dual exocrine and NE differentiation, termed amphicrine carcinoma, has been described at various other sites, primarily within the gastrointestinal tract. The aim of this study was to investigate the clinicopathological features of a series of metastatic prostate carcinoma (PCa) cases with amphicrine features. METHODS AND RESULTS: Five cases of high-grade PCa showing an amphicrine immunohistochemical phenotype were prospectively collected. The serum prostate-specific antigen (PSA) level at diagnosis ranged from 38 ng/ml to 992 ng/ml (median 200 ng/ml). All five patients had metastatic disease, four at initial presentation. Microscopically, the tumours showed a solid/nested growth pattern composed of cells with amphophilic cytoplasm, vesicular nuclei, and macronucleoli. Morphological features of small-cell or large-cell NE carcinoma were absent. As compared with conventional high-grade PCa, the tumour cells showed a higher level of nuclear pleomorphism, brisk mitotic activity, and a high Ki67 proliferation index (median 50%). All cases showed immunohistochemical positivity for PSA, androgen receptor, and prostate-specific acid phosphatase, combined with diffuse or confluent/non-focal positivity for chromogranin-A and synaptophysin. Two hormone-naive cases showed a clinical response to androgen deprivation therapy. CONCLUSION: This series highlights a previously undefined, clinically aggressive variant of PCa showing dual exocrine and NE differentiation, for which we are proposing the term PCa with amphicrine features. Increased recognition of these tumours may lead to a better understanding of their biology, and ultimately improve their clinical management.

Synchronous metastatic omental melanoma and colonic adenocarcinoma: a case report.

BACKGROUND: Malignant melanoma is a rare malignancy of the skin with very high mortality rates. Distal metastases are common especially to other areas of the skin, subcutaneous tissues lungs or liver. There are no previously reported cases of skin melanoma metastasizing to the omentum. CASE PRESENTATION: A 62 year-old white British man with a past medical history of a malignant melanoma of the skin underwent a laparotomy for a partially obstructing sigmoid tumour. Intra-operatively, a round, smooth textured black lesion was identified on the anterior surface of the omentum; the nodule was confirmed to be a metastatic malignant melanoma with abundant brown pigment and a focal necrotic area. CONCLUSION: A metastatic malignant melanoma was discovered incidentally on the omentum during a laparotomy for bowel obstruction. The significance of this is unclear but it is possible that the omentum may have played a protective role in limiting its spread systemically.

Predictors of atopic dermatitis severity over time.

BACKGROUND: Atopic dermatitis (AD) is a chronic relapsing disease that has increased in prevalence during the last 4 decades. However, little is known about factors that affect disease severity. METHODS: We carried out a longitudinal observational study that included children aged 5 to 10 years recruited from general practices in the United Kingdom. General practitioners identified potential patients and the United Kingdom diagnostic criteria for AD were used to verify the diagnosis in children. The scoring AD index was used to assess disease severity. In addition, information was obtained from parents at the first interview as to age of onset, social class, ethnic group, child's atopy, family history of atopy, and other potential risk factors using a 5-page piloted questionnaire. The aim was to document risk factors for AD severity over time by sequential repeated interview and clinical examination during a 2-year period. The scoring AD index was skewed to the right so nonparametric tests were used for statistical significance. RESULTS: In all, 137 children (65 boys [47%] and 72 girls) with AD were recruited and seen up to 4 times; 40 in March 1998, 104 in October 1998, 116 in March 1999, and 120 at the final visit in October 1999, giving our study an 88% follow-up rate. The severity scores were ranked into 3 categories (80% mild, 18% moderate, and 2% severe) according to suggested guidelines. From this population we were able to show that those with eczema that commenced during the first year of life, which was accompanied by asthma, hay fever, or both, and associated with living in an urban area, had more severe disease independent of other potential risk factors. CONCLUSION: This study has systematically studied AD severity in a community-based design. Researchers and clinicians should be aware of those factors reported in our study as patients exposed to these factors may have a different disease outcome. Further studies on disease severity are needed.

Relationship between quality of life and disease severity in atopic dermatitis/eczema syndrome during childhood.

PURPOSE OF REVIEW: Atopic dermatitis is a chronic relapsing itchy disease that has an effect on children and families' quality of life. The purpose of this review is to give workers in the field an easy-to-read, up-to-date and accessible summary of recent advances in the relationship between quality of life and disease severity in atopic dermatitis/eczema syndrome during childhood. This review, however, concentrates on original articles that have been published since 1 April 2002, and reports a relationship between disease severity and quality of life scores in childhood atopic dermatitis. RECENT FINDINGS: It has been shown that childhood atopic dermatitis has a major impact on children and families' quality of life. Researchers also reported that scores on quality of life and disease severity were positively correlated at a point in time and over a period of time. They also showed that children and quality of life measures have improved after medical interference. SUMMARY: Despite the limitation of the studies reviewed, it is logical to conclude that childhood atopic dermatitis has affected children and families' quality of life. These studies have also reported that disease severity and quality of life are correlated in childhood atopic dermatitis at a point in time and over time. However, these aspects should be studied further in order to evaluate the long-term impact of the disease and its variation during childhood. Disease severity and quality of life should be measured independently.