Whipple's disease scleral nodules: a novel presentation in 2 consecutive patients.

BACKGROUND: Whipple's disease (WD) is a rare, chronic, infection caused by gram-positive filamentous aerobic actinobacterium Tropheryma whipplei occurs classically in the gastrointestinal tract and shows histopathologically foamy macrophages with typical numerous PAS-positive, non-acid fast particles. Ocular WD in the form of uveitis may occur in the absence of systemic disease but has not been reported to present with scleral manifestation. We describe for the first time to the best of our knowledge 2 cases of scleral nodules with typical histopathological morphology of WD and without systemic involvement. CASE PRESENTATION: The first was a 53-year old diabetic male farmer who presented with 2 nontender right eye scleral nodules for 3 months, had a negative systemic workup, and surgical excision showed Periodic acid Schiff (PAS)-positive eosinophilic structures inside macrophages. Grocott's methenamine silver (GMS) stain and acid-fast bacilli (AFB) stain of the tissue itself were negative. The second case was a 60-year old male who presented with an asymptomatic superior scleral nodule for 4 months, which showed similar appearance and negative GMS and AFB stains. CONCLUSION: WD should be included in the differential diagnosis of scleral nodules even in the absence of systemic symptoms. Surgical excision without systemic treatment resulted in successful outcome without recurrence.

Magnetic Resonance Imaging Features of Congenital Infantile Fibrosarcoma.

Background Congenital/infantile fibrosarcoma is a rare soft tissue tumor presented in early age of life. It should be considered in the differential diagnosis of the large soft tissue masses especially in the extremities at the age of infancy. These tumors frequently are misdiagnosed at birth as hemangioma. Histologically, they can resemble their adult counterparts and they are characterized by the chromosomal translocation t(12;15) (p13;q25) resulting in the ETV6-NTRK3 gene fusion. Objective A retrospective review of the MRI features of histopathology-proven congenital/infantile fibrosarcoma provides our own institutional experience and supports the limited radiology literature written about this disease. Material and method The list of our patients is obtained after reviewing our radiology and pathology database in the period between June 1st, 2007 and May 31st, 2017 (10 years) at King Faisal Specialist Hospital & Research Center, Riyadh. Phrases used to search in our MRI examinations database are: congenital infantile fibrosarcoma, infantile fibrosarcoma, juvenile fibrosarcoma, soft tissue sarcoma, malignant soft tissue mass, sarcomatous soft tissue mass, fibrosarcoma, spindle cell sarcoma, myomatous sarcoma. Result In our database and picture archiving and communication system (PACS) during the period of the study, the word (fibrosarcoma) was mentioned in the radiology report of 182 patients. Only four cases were histopathologically proven to be a congenital/infantile fibrosarcoma and had completed their own MR exams - three of them were primary/new cases, males with an age range between 0 days and 5 months (median age: 5 months). The fourth case was a female with a history of 1st presentation at the age of one month and proved by histopathology examination but there was no available imaging at that time; however, tumor recurrence in the same patient was at the age of 4 years with available MR imaging and pathology sample. Conclusion Congenital infantile fibrosarcoma is a rare entity that has no specific MRI findings. However, it should be always considered as part of the differential diagnosis of congenital soft tissue masses with aggressive behavior.

Ameloblastic Fibrosarcoma of the Jaw: Case Report, Genetic Profiling, and Literature Review.

Ameloblastic fibrosarcoma (AFS) is considered a malignant progression resulting from dysplastic changes in an ameloblastic fibroma (AF). Both tumors are extremely rare, with only a few cases reported in the scientific literature. Notably, BRAF mutations have been identified in ameloblastomas, suggesting a connection between ameloblastic morphology and BRAF mutations, as AF is believed to be the precursor neoplasm leading to AFS. In this study, we present a case of AFS in a 25-year-old male. The tumor tissue underwent molecular analysis, specifically next-generation sequencing (NGS) using the Oncomine Comprehensive Assay v3 System. The analysis revealed pathogenic mutations in TP53 and RB genes, as well as copy number gains in NTRK1, MDM4, and BRAF. Additionally, we provide a summary of the literature's findings from the analysis of 107 previously reported AFS cases. Our findings suggest the existence of a molecularly distinct subtype, emphasizing the importance of comprehensive molecular testing for these patients.

Intravascular Papillary Endothelial Hyperplasia (Masson Tumor) of the Right Thumb: A Case Report and Literature Review.

The Masson tumor is a benign vascular tumor named after Pierre Masson, the French pathologist who originally described it in 1923, terming it "hémangio-endothéliome végétant intravasculaire." It is a rare tumor that can arise in any area throughout the body. However, the exact cause of Masson tumor remains poorly understood, and its diagnosis is challenging and difficult to distinguish from several other soft-tissue tumors. In this report, we report a case of Masson tumor arising in the right thumb that is only the second reported case in the hand in Saudi Arabia.

Intramuscular Hemangioma of the Sternocleidomastoid: A Rare Tumor in an Unusual Location.

Intramuscular hemangiomas (IMH) are benign vascular tumors of the skeletal muscles. These tumors are uncommon in the head and neck region and usually affect the trunk and extremities. IMH of the masseter and trapezius muscles have been reported in the head and neck region. However, the sternocleidomastoid is extremely rare. In the current case report, we described a 25-year-old man with a rare case of intramuscular hemangioma involving the sternocleidomastoid muscle and reviewed the relevant literature. Contrast-enhanced computed tomography was initially obtained and showed a slightly hyperdense soft tissue mass. Head and neck magnetic resonance imaging (MRI) demonstrate a well-delineated hyperintense lesion on the T2 sequence suggestive of a soft tissue hemangioma. Subsequently, angioembolization using onyx was performed, followed by surgical excision of the mass under general anesthesia. Histopathological examination of the mass showed vascular proliferation within the skeletal muscles, and fatty tissue with an abundance of capillaries, which are consistent with capillary type intramuscular hemangioma. The patient was followed up in the clinic until the wound healed. Three months after surgery, no recurrence was observed. Preoperative angioembolization contributed to the success of IMH surgery by reducing morbidity, facilitating complete excision, and decreasing the risk of recurrence.

Alveolar Soft-Part Sarcoma in Olfactory Cleft: A Case Report and Clinicopathological Review.

Sinonasal alveolar soft-part sarcoma (ASPS) is a rare malignant disease that comprises 0.4% to 1.2% of all soft-tissue sarcomas. Alveolar soft-part sarcoma is usually difficult to diagnose because it has many clinical and pathological mimickers. In this case study, ASPS occurred in the olfactory cleft, representing the second case in this location in the literature. This article presents the clinical presentation, radiologic, and histopathological case, and reviews the literature regarding the differentials.

Seminoma presenting as a polypoid bladder mass: a case report.

We report a case of extragonadal seminoma presenting as a polypoid mass in the urinary bladder. The patient presented with two months history of hematuria. Evaluation by CT scan and cystoscopic examination revealed a polypoid mass in the base of the bladder. Biopsy of the mass revealed a classical type of seminoma. The diagnosis of seminoma was supported by strong immunostaining of the tumor cells for C-Kit and placental alkaline phosphatase. Thorough physical examination and radiologic imaging of other organ systems failed to reveal any other tumor. Both testes were found to be normal on examination and on ultrasound imaging. Patient responded well to chemotherapy. This case is unique because to the best of our knowledge there are no previously reported cases in the literature with seminoma presenting as a bladder mass.