Odontoameloblastoma with extensive chondroid matrix deposition in a guinea pig

Odontoameloblastomas (previously incorporated within ameloblastic odontomas) are matrix-producing odontogenic mixed tumors and are closely related in histologic appearance to the 2 other types of matrix-producing odontogenic mixed tumors: odontomas and ameloblastic fibro-odontomas. The presence or absence of intralesional, induced non-neoplastic tissue must be accounted for in the diagnosis. Herein we describe a naturally occurring odontoameloblastoma with extensive chondroid cementum deposition in a guinea pig (Cavia porcellus). Microscopically, the mass featured palisading neoplastic odontogenic epithelium closely apposed to ribbons and rings of a pink dental matrix (dentinoid), alongside extensive sheets and aggregates of chondroid cementum. The final diagnosis was an odontoameloblastoma given the abundance of odontogenic epithelium in association with dentinoid but a paucity of pulp ectomesenchyme. Chondroid cementum is an expected anatomical feature of cavies, and its presence within the odontoameloblastoma was interpreted as a response of the ectomesenchyme of the dental follicle to the described neoplasm. Our case illustrates the inductive capabilities of odontoameloblastomas while highlighting species-specific anatomy that has resulted in a histologic appearance unique to cavies and provides imaging and histologic data to aid diagnosis of these challenging lesions

Coccidiomycosis infection of the patella mimicking a neoplasm - two case reports.

BackgroundCoccidioidomycosis is an endemic fungal infection in the southwestern of United States. Most infections are asymptomatic or manifest with mild respiratory complaints. Rare cases may cause extrapulmonary or disseminated disease. We report two cases of knee involvement that presented as isolated lytic lesions of the patella mimicking neoplasms.Case presentationThe first case, a 27 year-old immunocompetent male had progressive left anterior knee pain for four months. The second case was a 78 year-old male had left anterior knee pain for three months. Both of them had visited general physicians without conclusive diagnosis. A low attenuation lytic lesion in the patella was demonstrated on their image studies, and the initial radiologist's interpretation was suggestive of a primary bony neoplasm. The patients were referred for orthopaedic oncology consultation. The first case had a past episode of pulmonary coccioidomycosis 2 years prior, while the second case had no previous coccioidal infection history but lived in an endemic area, the central valley of California. Surgical biopsy was performed in both cases due to diagnostic uncertainty. Final pathologic examination revealed large thick walled spherules filled with endospores establishing the final diagnosis of extrapulmonary coccidioidomycosis.ConclusionsThough history and laboratory findings are supportive, definitive diagnosis still depends on growth in culture or endospores identified on histology. We suggest that orthopaedic surgeons and radiologists keep in mind that chronic fungal infections can mimic osseous neoplasm by imaging

Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B therapy. In order to identify genetic alterations useful for a new treatment design, we used whole-exome sequencing to analyze 14 BPDCN patients and the patient-derived CAL-1 cell line. The functional enrichment analysis of mutational data reported the epigenetic regulatory program to be the most significantly undermined (P<0.0001). In particular, twenty-five epigenetic modifiers were found mutated (e.g. ASXL1, TET2, SUZ12, ARID1A, PHF2, CHD8); ASXL1 was the most frequently affected (28.6% of cases). To evaluate the impact of the identified epigenetic mutations at the gene-expression and Histone H3 lysine 27 trimethylation/acetylation levels, we performed additional RNA and pathology tissue-chromatin immunoprecipitation sequencing experiments. The patients displayed enrichment in gene signatures regulated by methylation and modifiable by decitabine administration, shared common H3K27-acetylated regions, and had a set of cell-cycle genes aberrantly up-regulated and marked by promoter acetylation. Collectively, the integration of sequencing data showed the potential of a therapy based on epigenetic agents. Through the adoption of a preclinical BPDCN mouse model, established by CAL-1 cell line xenografting, we demonstrated the efficacy of the combination of the epigenetic drugs 5’-azacytidine and decitabine in controlling disease progression in vivo

Cancer in Ancient Human Populations: Methods and Practice in Bioarchaeology and Paleopathology

Best Undergraduate Writing in Anthropology Award, 2019-2020Despite its prevalence in contemporary public health, research on the paleopathology of cancer is still extremely limited. Successful methods have been employed to identify cancer in human remains which show a very small fraction of the existing archaeological record to contain signs of cancer. This current evidence would indicate that cancer was much rarer in antiquity than it is now, and this would suggest that cancer is a product of modern day environments and lifestyles. However, this conclusion is based upon very narrow research utilizing a methodology that is limited in its reach. Current methods rely solely on gross observation of skeletal material, which fails to account for the wide range of factors that influence the growth and development of carcinomas. This methodology is insufficient in providing a detailed history of the growth and development of cancer in human antiquity. This project aims to determine an interdisciplinary methodology for the study of ancient human cancers, incorporating approaches employed in bioarcheology, epidemiology, and more contemporary cancer genomics.No embargoAcademic Major: Anthropological SciencesAcademic Major: Englis

Osteoporotic and Neoplastic Compression Fracture Classification on Longitudinal CT

Classification of vertebral compression fractures (VCF) having osteoporotic or neoplastic origin is fundamental to the planning of treatment. We developed a fracture classification system by acquiring quantitative morphologic and bone density determinants of fracture progression through the use of automated measurements from longitudinal studies. A total of 250 CT studies were acquired for the task, each having previously identified VCFs with osteoporosis or neoplasm. Thirty-six features or each identified VCF were computed and classified using a committee of support vector machines. Ten-fold cross validation on 695 identified fractured vertebrae showed classification accuracies of 0.812, 0.665, and 0.820 for the measured, longitudinal, and combined feature sets respectively.Comment: Contributed 4-Page Paper to be presented at the 2016 IEEE International Symposium on Biomedical Imaging (ISBI), April 13-16, 2016, Prague, Czech Republi

Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?

Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis. Case Report: We report here the case of a young woman with hepatosplenomegaly, leukopenia, and thrombocytopenia. Based on bone marrow (BM) findings and on liver biopsy showing extramedullary hematopoiesis, an initial diagnosis of PMF was formulated. The patient refused stem cell transplantation from an HLA-identical sibling. Low-dose melphalan was given, without any improvement. Two years later, a BM evaluation showed Gaucher cells. Low glucocerebrosidase and high chitotriosidase levels were indicative for GD. Molecular analysis revealed N370S/complex I mutations. Enzyme replacement therapy with imiglucerase was commenced, resulting in clinical and hematological improvements. Due to an unexpected and persistent organomegaly, PMF combined with GD were suspected. JAK2V617F, JAK2 exon 12, MPL, calreticulin, and exon 9 mutations were negative, and BM examination showed no marrow fibrosis. PMF was excluded. Twenty years after starting treatment, the peripheral cell count and liver size were normal, whereas splenomegaly persisted. Conclusion: In order to avoid a misdiagnosis, a diagnostic algorithm for patients with hepatosplenomegaly combined with cytopenia is suggested

Hürthle cell carcinoma: current perspectives.

Hürthle cell carcinoma (HCC) can present either as a minimally invasive or as a widely invasive tumor. HCC generally has a more aggressive clinical behavior compared with the other differentiated thyroid cancers, and it is associated with a higher rate of distant metastases. Minimally invasive HCC demonstrates much less aggressive behavior; lesions <4 cm can be treated with thyroid lobectomy alone, and without radioactive iodine (RAI). HCC has been observed to be less iodine-avid compared with other differentiated thyroid cancers; however, recent data have demonstrated improved survival with RAI use in patients with HCC >2 cm and those with nodal and distant metastases. Patients with localized iodine-resistant disease who are not candidates for a wait-and-watch approach can be treated with localized therapies. Systemic therapy is reserved for patients with progressive, widely metastatic HCC