Papillary thyroid carcinoma (PTC) is typically an indolent disease characterized by slow growth and a favorable prognosis. In rare instances, this disease may metastasize to the pleura and manifest as a malignant pleural effusion. We report 3 female patients of Japanese/Okinawan ancestry with a history of PTC who presented with hydrothorax. Cytologic examination in conjunction with immunohistochemical staining enabled a definitive diagnosis of metastatic PTC. Molecular analysis of the mitogen activated protein kinase (MAPK) and phosphatidylinositol 3-kinase (PI3K) pathways demonstrated the presence of the v-raf murine sarcoma viral oncogene homolog B (BRAF)(V600E) mutation in 2 of our 3 patients, with the absence of any other clinically significant mutations in all cases. Further investigation is necessary to elucidate the molecular and environmental mechanisms involved in this aggressive manifestation of PTC.
Metastatic spread of malignancy to the joints is rare and only a few cases of solid tumors have been reported. We describe a patient with inflammatory arthritis of the knee and ankle secondary to metastatic gastric adenocarcinoma to the joints and bone diagnosed by synovianalysis. Arthritis secondary to metastatic cancer is a poor prognostic sign. The diagnosis is based on a strong clinical suspicion, magnetic resonance imaging, and joint fluid cytology or synovial biopsy.
Primary testicular sarcomas are extremely rare. In contrast, germ cell tumors (GCTs) with sarcomatous components (SCs) that can have similar pathologic features are more frequently reported. We report a primary undifferentiated testicular sarcoma with cytogenetic analysis for amplification of 12p. A 36-year-old male initially presented with 9.4 cm right testicular tumor and no metastatic disease. He was lost to follow-up but re-presented 2 years later with tumor growth to 21 cm and multiple pulmonary and bone metastases. Histologically, the testicular tumor revealed an undifferentiated sarcoma. Fluorescence in situ hybridization (FISH) of paraffin-embedded tissue showed no amplification of 12p. Gain of isochromosome 12p (i(12p)) is a specific chromosomal anomaly present in most GCTs. The cytogenetic analysis indicated the possibility that the tumor was not of GCT origin. This is the first report of primary testicular undifferentiated sarcoma with cytogenetic analysis for i(12p). J Med Cases. 2016;7(1):7-12 doi: http://dx.doi.org/10.14740/jmc2356w
Primary testicular sarcomas are extremely rare. In contrast, germ cell tumors (GCTs) with sarcomatous components (SCs) that can have similar pathologic features are more frequently reported. We report a primary undifferentiated testicular sarcoma with cytogenetic analysis for amplification of 12p. A 36-year-old male initially presented with 9.4 cm right testicular tumor and no metastatic disease. He was lost to follow-up but re-presented 2 years later with tumor growth to 21 cm and multiple pulmonary and bone metastases. Histologically, the testicular tumor revealed an undifferentiated sarcoma. Fluorescence in situ hybridization (FISH) of paraffin-embedded tissue showed no amplification of 12p. Gain of isochromosome 12p (i(12p)) is a specific chromosomal anomaly present in most GCTs. The cytogenetic analysis indicated the possibility that the tumor was not of GCT origin. This is the first report of primary testicular undifferentiated sarcoma with cytogenetic analysis for i(12p). J Med Cases. 2016;7(1):7-12 doi: http://dx.doi.org/10.14740/jmc2356w
A laboratory study was conducted to determine static lifting strengths on 13 males and 12 females from 18 to 28 years of age. Using the strength monitor, the average strength and peak strength were measured in four different postures: standing, sitting, lying on stomach with elbows support, and without elbow support. Five sets of data were collected at constant heights. There was a significant difference in lifting strengths between standing lifts and lying on stomach without elbow-support postures; maximum lift occurred in the standing position. It was found that there was no significant difference in lifting strengths between sitting and lying on stomach with elbows sup port. The average female strengths were found to be about 49% to 55% of male subjects in all postures.
e17567 Background: Melanoma is a global problem. Since Caucasians are primarily affected by melanoma, most of the focus is on this cohort. In minorities, melanoma is usually associated with a worse survival. Hawaii provides a rare opportunity to study different aspects of the disease in unique ethnicities. Our objective was to explore early detection of melanoma in minority groups by performing germline genotyping for high-risk variants of the MC1R (melanocortin-1 receptor) gene. Recent studies have chronicled the relevance that individuals with specific MC1R variants had an increased risk of melanoma despite possessing traditional low-risk phenotypic features such as dark complexion. There have been no studies of genotyping for high-risk variants of the MC1R gene in a multi-ethnic population that is comprised of Native Hawaiians, Filipinos, and Pacific Islanders. Methods: From 2003-2012, ten non-Caucasian patients were histologically confirmed to have cutaneous non-acral melanoma were analyzed at a tertiary academic center in Hawaii. Data including age, gender Breslow thickness, ulceration and mitosis per mm2 were compiled. Targeted exome sequencing was performed on melanoma tissue from formalin fixed paraffin embedded archived biospecimens. Formalin-fixed-paraffin-embedded tissue was utilized to perform targeted exome sequencing. Next generation sequencing was performed. Variants were annotated and sequences confirmed. Results: The demographics of our population included a mean age of 55.5 years with 60% females. Pathologic variables included a median Breslow thickness of 1.96 mm and mean mitoses per mm squared of 5.2. Our findings included identification of the high risk variant R160W of the MC1R gene (recall that D84E, D29H, R160W, or R151C were found to associated with a 2 X increased risk of melanoma). Additionally, 5/10 (50%) of our cohort had the R163Q variant which is typically not associated with the development of melanoma (in Caucasians). Conclusions: A known high-risk variant of the MC1R gene was identified. Additionally, novel alterations were discovered. This is compelling data that may be applied to screening and prevention efforts for minority populations that traditionally overlooked.
Abstract: We examined the proliferative characteristics of 20 basal‐cell carcinomas (BCCs) and 16 trichoepitheliomas (TEps) in an effort to understand and explore possible differences in their tumorigenic cell‐cycle properties. These tumors were first compared for their expression of the nuclear proliferative protein Ki‐67 and the tumor suppressor protein p53. We also compared the p53 downstream effector, p21 waf‐1/cip‐1 , an inhibitor of cyclin‐dependent kinases. The other p53‐dependent, cyclin‐dependent kinase inhibitor, p27 kip‐1 , has shown to be increased in TEps, which is consistent with this benign neoplasm's better‐differentiated state. In our findings, we confirmed through immunohistochemical staining for Ki‐67 that BCCs qualitatively showed a greater proliferative fraction compared to TEps (50.0 vs. 13.0%, p < 0.00001) as well as over‐expression of p53 (2+ vs. 1+, p < 0.0008). BCCs marked by p21 demonstrated scattered nuclear positivity compared to the virtual absence of staining in the TEps (p < 0.019). In studying their cell‐cycle properties, our findings suggest that abnormalities in the p53 pathway allow BCCs to obtain a growth advantage. We show that Ki‐67 and p53 staining both appear useful in resolving challenging differential diagnoses and thereby help in directing appropriate treatment strategies.
