Monostotic fibrous dysplasia of jaw bones: a case series.

BACKGROUND: Fibrous dysplasia (FD) is a benign fibro-osseous lesion, a skeletal developmental anomaly of the bone-forming mesenchyme. The diagnosis of fibro-osseous lesions, particularly those of the jaw bones, poses significant challenges to clinicians and pathologists since it requires a correlation of clinical, radiological, histological, and surgical findings. Accurate and specific diagnosis is crucial as treatment modalities differ with different fibro-osseous lesions. METHODS: This retrospective analysis presents a case series of a rare condition of monostotic FD in the maxillofacial region affecting jaw bones diagnosed and/or treated over period of 10 years. RESULTS: Five cases of monostotic FD were diagnosed and treated between a period of 2013 and 2023. The cases from the 2nd to 8th decade were included in the analysis with equal involvement of males and females. Out of five cases, four cases were involving maxilla and 1 showed involvement of mandible. CONCLUSION: FD is a rare entity affecting the jaw bones which often lead to disfigurement of face. Early detection is warranted to decrease potential complications. In addition, genetic analysis could help in understanding the occurrence in certain population.

Molecular expression characteristics confirm the malignancy concealed by morphological alterations in endometrial cancer after fertility-preserving treatment.

PURPOSE: Fertility-preserving treatment (FPT) has been widely used for young patients with early stage endometrial cancer (EC). However, the literature on the effectiveness and safety of FPT remains controversial. The aim of this study was to investigate malignant transformation in EC after FPT by immunohistochemistry (IHC). METHODS: A retrospective analysis of pre- and post-treatment biopsy specimens from 24 patients with grade 1 endometrioid adenocarcinoma (EAC) or complex atypical hyperplasia (CAH) was performed. The expression levels of ARID1A, PTEN, and ß-catenin were assessed by IHC. RESULTS: The protein expression levels of ARID1A, PTEN, and ß-catenin were not significantly different between pre- and post-treatment specimens. However, there was a significant difference between pre-treatment and normal specimens as well as between post-treatment and normal specimens. The protein expression of ß-catenin was significantly increased in patients with progression compared with those without progression after FPT. CONCLUSION: The morphologic normalization of patients with EC after FPT may not be accompanied by the absence of tumor malignancy, and ß-catenin may serve as a biomarker for the response to FPT. These results may contribute to a better understanding of the malignant transformation of EC after FPT and the optimization of treatment strategies for young patients with birth plans.

Right atrial cardiac myxoma with malignant transformation to undifferentiated sarcoma: A case report.

Generally, sarcomas arising from benign soft tissue are rare. Cardiac myxoma (CM) is a benign tumor, and few reports have described its malignant transformation. Herein, we documented a case of an 89-year-old man with prostate cancer and a 5-year history of a right atrium tumor without Carney complex. The tumor was resected surgically and had a myxomatous or gelatinous appearance. Microscopically, the tumor had two components: a sarcomatous area and myxomatous area. In the myxomatous area, typical myxoma cells were demonstrable and were strongly immunoreactive for immunohistochemistry (IHC) of calretinin. In the sarcomatous area, the epithelioid- to spindle-shaped cells with prominent atypia proliferated densely. The IHC profile of cells in the sarcomatous area was different from that of cells in the myxomatous area; MDM2-positive cells were found only in the sarcomatous area. Especially, the Ki-67 index and number of p53-positive cells in the sarcomatous area were higher than those in the myxomatous area. The transition of the two components was seamless. Thus, we made a diagnosis of CM with malignant transformation corresponding to undifferentiated pleomorphic sarcomas. This case suggests that CM may transform into sarcoma, albeit rarely.

Thyroglossal Duct Cyst Carcinoma: Our 12-year Experience in a Tertiary Care Centre.

Malignant transformation in thyroglossal duct cyst is an extremely rare occurrence, papillary carcinoma being the most common type of malignancy. In this study, we present our 12-years experience on this rare pathology. Records of all the patients with thyroglossal duct cyst and thyroid malignancies who were managed between January 2011 and December 2022 were reviewed retrospectively. The data was recorded and studies. Descriptive statistics were used to summarize the data. Out of 112 cases of thyroglossal duct cyst, 11 adult patients had associated carcinoma. Their age ranged from 20 to 68 years with a median age of 32 years. The most common presentation was anterior midline painless neck swelling. The diagnosis was made on final histopathological examination post-operatively. Alignant change is rare complication of the most common congenital thyroid anomaly. This study highlights the occurrence of this disease in adults and provides data on manifestation and management of this rare disease.

Malignant peripheral nerve sheath tumors arising from schwannomas: case series and literature review.

A malignant peripheral nerve sheath tumor (MPNST) arising from a schwannoma is extremely rare, with limited literature on its clinicopathologic features. Here, we present a case series and literature review on patients with MPNSTs arising from schwannomas. We performed a retrospective review of patients from our institution's records to identify those with MPNSTs arising from schwannomas. We conducted a search for additional cases from the literature utilizing PubMed. 20 patients (including 2 at our institution and 18 from 16 prior publications) were identified. The patients aged 22-93 (mean 52) years, and 63% were females. Histologically, while most MPNSTs arising from schwannomas were of epithelioid-type, 7 tumors (including 2 at our institution) were of conventional spindle-cell type. All 20 patients underwent surgical excision, while a subset received additional radiotherapy and/or chemotherapy. In 17 patients with available follow-up, the overall survival was 2-72 (median 12) months. MPNSTs rarely arise from schwannomas and should be considered in patients with a clinical diagnosis of schwannoma, however, with atypical radiologic or clinical features. MPNSTs arising from schwannomas can show epithelioid or spindle-cell histology and harbor an aggressive course, even with surgical excision and adjuvant treatment.

Neuroendocrine Tumor Arising in a Tailgut Cyst: A Rare Presacral Tumor.

A tailgut cyst (retrorectal cystic hamartoma) is an uncommon lesion that develops in the presacral (retrorectal) space. Malignant change in a tailgut cyst is extremely rare and presents as a soft tissue (presacral) or bone (sacral) neoplasm. We report a case of tailgut cyst in which a neuroendocrine tumor developed in a 25-year-old female. Computed tomography and magnetic resonance imaging scans revealed a sacrococcygeal malformation with absent left S4 and S5 and a partly cystic lesion within the right presacral space. Histologically, the lesion contained cystic and solid elements. The cysts were lined by columnar and stratified squamous epithelial cells with underlying patchy smooth muscle. The solid element was a partly necrotic neuroendocrine tumor composed mainly of ribbons of tumor cells, which showed mitotic activity and expressed cytokeratin, chromogranin, and synaptophysin. Histologically, tailgut cysts are lined by epithelium and contain scattered smooth muscle bundles in the cyst wall. Although rare, the possibility of tailgut cyst with neuroendocrine tumor should be included in the differential diagnosis of an enlarging presacral tumor.

Clinicopathological features and post-resection outcomes of biliary cystadenoma and cystadenocarcinoma of the liver.

BACKGROUNDS/AIMS: Biliary cystadenoma (BCA) and biliary cystadenocarcinoma (BCAC) account for 5%-10% of liver cystic diseases. In this study, we analysed the clinical presentation and surgical management of patients with BCA and BCAC. METHODS: We retrospectively analysed the medical records of 23 BCA and 7 BCAC cases diagnosed between January 2007 and December 2013. RESULTS: There was a statistically significant difference in age (p=0.044) and sex (p=0.048) between BCA and BCAC groups. In the BCA group, 17 patients showed no symptoms (74%), 5 had abdominal pain (22%) and 1 showed abdominal distension (4%). In the BCAC group, two patients were without any symptoms (29%), three had abdominal pain (43%), one showed abdominal distension (14%) and one had fever and chills (14%). The cystic lesion size was widely variable; thus, there was no statistical difference (p=0.84). Complete resection was performed in all patients with BCA and BCAC. No tumour recurrence developed in patients with BCA. In patients with BCAC, 1-, 3- and 5-year disease-free survival rates were 100%, 85.7% and 57.1%, respectively, and 1-, 3- and 5-year overall patient survival rates were 100%, 100% and 75.0%, respectively. CONCLUSIONS: It is difficult to distinguish between BCA and BCAC via clinical manifestations and diagnostic imaging findings. Surgical resection is the treatment of choice for BCA and BCAC, and patient prognosis after complete resection was very favourable.

Multiple Sebaceous Horn on the Penis-an Interesting Case Report.

Sebaceous horns (de la Pena Zarzuelo et al., Arch Esp Urol 54:367-368, 2001; Vera-Donoso, Scand J Urol Nephrol 43:92-93, 2009) are rare on the penis, as they are commonly seen only on sun-exposed areas. A 45-year-old male presenting with multiple sebaceous horns of the penis is reported here. Excision of the horn with a rim of normal tissue in the base was done. Histopathological examination revealed no malignant change.

Malignant fibrous histiocytoma-case report.

Fibrous histiocytoma is a tumor composed of a mixture of fibroblastic and histiocytic cells. These lesions most often arise on the skin, but may rarely occur in soft deep tissues. The diagnosis of FH may be clinically difficult when the lesion is located in the deep tissues, and is frequently confirmed after local excision. The most important diagnostic necessity is the separation of this tumor from aggressive forms of fibrohistiocytic neoplasms. We present a unique case of malignant fibrous histiocytoma developing in left buccal mucosa very near to the surgical margin from which a benign fibrous histiocytoma of the mandible was excised 3 years earlier in a 31 year old female. Clinical and histopathological evidence were not sufficient to establish link between these two processes. This article aims to describe the case and discuss the findings.