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1.
Cureus ; 9(8): e1634, 2017 Aug 31.
Article in English | MEDLINE | ID: mdl-29104842

ABSTRACT

Multiple myeloma (MM) and osteosarcoma (OS) are two common bone malignancies, however, the simultaneous occurrence of both primary bone tumors in the same patient has not been reported in the United States to date. We present a unique case in which both malignancies present concurrently in a 72-year-old man. Results of spinal magnetic resonance imaging (MRI), radiographic skeletal survey, and hematological workup established the initial diagnosis of MM. Approximately three months later, the patient was admitted with severe right hip pain and shortness of breath and was evaluated with computed tomography (CT) of the right hip, abdomen, pelvis, and chest, revealing an osseous mass with a "sunburst" pattern in the right hip, and several calcified nodules in the lungs. Subsequent wedge resection and histological evaluation of the lung nodules confirmed the diagnosis of metastatic OS to the lungs, with a presumptive diagnosis of primary OS of the right hip. The clinical findings and imaging characteristics in this case are presented. Two similar cases found in the literature are also briefly discussed. The findings of this case report suggest that, in rare instances, MM patients with sclerotic bone findings may have a concurrent diagnosis of OS.

2.
Pathology ; 43(1): 48-53, 2011 Jan.
Article in English | MEDLINE | ID: mdl-21240065

ABSTRACT

AIM: To describe two patients with a highly aggressive, apparently 'new' and rare soft tissue and bone malignancy of childhood and early adult life that we have named inflammatory monomorphic undifferentiated sarcoma. METHODS AND RESULTS: Two histologically identical tumours located in the proximal humerus and the anterior chest wall of males aged 6 and 31 presented as solitary, painful, tender, necrotising, masses, associated with fever, leukocytosis and negative microbiological cultures. The extensively necrotic resected tumours consisted of large, monomorphic epithelioid cells with vesicular nuclei, prominent eosinophilic nucleoli, and abundant eosinophilic cytoplasm surrounded by numerous neutrophils and eosinophils which formed sterile microabscesses. Immunohistochemical and ultrastructural studies revealed no specific differentiation. Both tumours were very aggressive, with early local recurrence, metastasis to regional and distant lymph nodes and viscera, and no response to several different chemotherapeutic regimens. CONCLUSION: A careful review of the literature led us to believe that inflammatory monomorphic undifferentiated sarcoma may represent a rare and distinct clinicopathological entity that does not appear to have been previously described.


Subject(s)
Bone Neoplasms/pathology , Sarcoma/secondary , Soft Tissue Neoplasms/pathology , Adult , Bone Neoplasms/metabolism , Child , Fatal Outcome , Humans , Humerus/diagnostic imaging , Humerus/pathology , Lymphatic Metastasis , Male , Necrosis , Osteolysis , Radiography , Sarcoma/metabolism , Sarcoma/surgery , Soft Tissue Neoplasms/metabolism , Soft Tissue Neoplasms/surgery , Thoracic Wall/diagnostic imaging , Thoracic Wall/pathology
3.
Clin Cancer Res ; 16(7): 1997-2008, 2010 Apr 01.
Article in English | MEDLINE | ID: mdl-20233889

ABSTRACT

PURPOSE: Advanced ovarian clear cell carcinoma (CCC) is one of the most aggressive ovarian malignancies, in part because it tends to be resistant to platinum-based chemotherapy. At present, little is known about the molecular genetic alterations in CCCs except that there are frequent activating mutations in PIK3CA. The purpose of this study is to comprehensively define the genomic changes in CCC based on DNA copy number alterations. EXPERIMENTAL DESIGN: We performed 250K high-density single nucleotide polymorphism array analysis in 12 affinity-purified CCCs and 10 CCC cell lines. Discrete regions of amplification and deletion were also analyzed in additional 21 affinity-purified CCCs using quantitative real-time PCR. RESULTS: The level of chromosomal instability in CCC as defined by the extent of DNA copy number changes is similar to those previously reported in low-grade ovarian serous carcinoma but much less than those in high-grade serous carcinoma. The most remarkable region with DNA copy number gain is at chr20, which harbors a potential oncogene, ZNF217. This discrete amplicon is observed in 36% of CCCs but rarely detected in serous carcinomas regardless of grade. In addition, homozygous deletions are detected at the CDKN2A/2B and LZTS1 loci. Interestingly, the DNA copy number changes observed in fresh CCC tissues are rarely detected in the established CCC cell lines. CONCLUSIONS: This study provides the first high resolution, genome-wide view of DNA copy number alterations in ovarian CCC. The findings provide a genomic landscape for future studies aimed at elucidating the pathogenesis and developing new target-based therapies for CCCs.


Subject(s)
Adenocarcinoma, Clear Cell/genetics , Chromatography, Affinity/methods , DNA Copy Number Variations , DNA, Neoplasm/isolation & purification , Ovarian Neoplasms/genetics , Adenocarcinoma, Clear Cell/pathology , Cell Line, Tumor , Chromosomal Instability , DNA, Neoplasm/analysis , Female , Gene Dosage , Gene Expression Profiling , Genome-Wide Association Study , Humans , Microarray Analysis , Ovarian Neoplasms/pathology , Polymorphism, Single Nucleotide , Trans-Activators/genetics
4.
Pathol Int ; 55(12): 781-4, 2005 Dec.
Article in English | MEDLINE | ID: mdl-16287493

ABSTRACT

Ependymomas generally arise in the central nervous system (CNS), although rare primary extraneural ependymomas have been observed. Reported herein for the first time is the case of a patient with primary ectopic cervical anaplastic ependymoma. The tumor was found in the right neck root region of a 35-year-old man. No additional tumor was found in the CNS or in other parts of the body. The patient received surgery and post-surgical local radiotherapy. Microscopically, the tumor consisted of round to oval cells with fine chromatin, distinct nucleoli, moderate nuclear atypia and numerous mitoses (>25/10 high-power fields) in a densely cellular growth pattern with characteristic fibrillary cytoplasm and formation of perivascular pseudorosettes. By immunohistochemistry, the tumor cells were positive for glial fibrillary acidic protein, epithelial membrane antigen (EMA), vimentin and S-100 protein. EMA staining showed a membranous as well as a paranuclear pattern of immunoreactivity. Electron microscopic studies revealed that tumor cells form micro rosettes, into which microvilli and cilia projected. The diagnosis was World Health Organization grade III anaplastic ependymoma. There is no evidence of local tumor recurrence or distant metastasis after 30 months follow up. The present case adds yet another unique example to the already diverse spectrum of head and neck neoplasms encountered in surgical pathology.


Subject(s)
Ependymoma/pathology , Head and Neck Neoplasms/pathology , Adult , Ependymoma/chemistry , Ependymoma/diagnosis , Glial Fibrillary Acidic Protein/analysis , Head and Neck Neoplasms/chemistry , Head and Neck Neoplasms/diagnosis , Humans , Male , Mucin-1/analysis , Vimentin/analysis
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