ABSTRACT
We report the clinical and pathologic features of, what is to the best of our knowledge, the first case of epithelioid sarcoma of bone. A 31-year-old woman with an unremarkable past medical history presented with pelvic pain and was found by computed tomography scan to have a destructive 5 cm, partially calcified intraosseous lesion of the iliac bone. Histologically, the tumor consisted of relatively uniform but clearly malignant-appearing epithelioid cells, with scattered rhabdoid-appearing cells. A hyalinized to partially calcified matrix was present between the tumor cells, with a "chickenwire" pattern of calcification. By immunohistochemistry, the neoplastic cells expressed cytokeratins, vimentin, epithelial membrane antigen and CD34, and showed complete loss of INI1 protein expression. Fluorescence in situ hybridization showed homozygous deletion of the INI1 gene. An extensive clinical and radiographic workup did not show evidence of a soft tissue tumor, and the diagnosis of a primary epithelioid sarcoma of bone was made. After this, the patient underwent a complete resection of her tumor, and is currently disease free, 6 months after surgery. These extremely rare tumors must be rigorously distinguished from other more common tumors of bone, in particular, chondroblastoma and osteosarcoma. Awareness that epithelioid sarcoma may occur in bone, careful histologic evaluation and ancillary immunohistochemistry for epithelial markers, CD34 and INI1 protein should allow for recognition of such tumors. Study of additional cases of primary epithelioid sarcoma of bone will be necessary to better understand its clinical behavior.
Subject(s)
Bone Neoplasms/genetics , Bone Neoplasms/pathology , Chromosomal Proteins, Non-Histone/biosynthesis , Chromosomal Proteins, Non-Histone/genetics , DNA-Binding Proteins/biosynthesis , DNA-Binding Proteins/genetics , Sarcoma/genetics , Sarcoma/pathology , Transcription Factors/biosynthesis , Transcription Factors/genetics , Adult , Biomarkers, Tumor/analysis , Bone Neoplasms/metabolism , Female , Gene Deletion , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , SMARCB1 Protein , Sarcoma/metabolism , Tomography, X-Ray ComputedABSTRACT
Swyer-James-MacLeod Syndrome (SJMS) occurs as a result of childhood bronchiolitis obliterans. Typically, this disorder is diagnosed in childhood after evaluations for recurrent respiratory infections. One of the reasons to explain the difficulty in diagnosis is that when patients develop little bronchiectasis, and therefore, few symptoms, then this syndrome may not be recognized until adulthood. Here, we are presenting a 22-year-old female patient who was diagnosed with SJMS who was initially misdiagnosed with a pneumothorax and treated by multiple chest tube drainages. This case highlights the significance of taking a careful history, the application of computed tomography and scintigraphy in confirming the diagnosis of SJMS and in eliminating other diseases.
Subject(s)
Bronchiolitis Obliterans/complications , Diagnostic Errors , Drainage , Lung, Hyperlucent/diagnosis , Pneumothorax/diagnosis , Unnecessary Procedures , Adult , Bronchiectasis/etiology , Chest Tubes , Drainage/instrumentation , Female , Humans , Lung, Hyperlucent/etiology , Lung, Hyperlucent/surgery , Medical History Taking , Perfusion Imaging , Pneumonectomy , Pneumothorax/surgery , Predictive Value of Tests , Radiography, Thoracic , Respiratory Function Tests , Thoracotomy , Tomography, X-Ray ComputedABSTRACT
The samples from pleural and pericardial effusion, in which immature haematopoietic cells had been identified cytologically, were re-examined. The results were then analysed along with the clinico-biological context and compared to published data. The aim was to determine the frequency, the type and the context of haematopoietic cell identification in pleural and pericardial fluid effusion. In 10 years, 28 cases were studied. Four sub-groups were described: 1) patients with a severe sepsis, 2) patients with an acute local or regional infection, 3) persistent or recurrent effusion without specific context, 4) patients who underwent a transplantation treated with cyclosporin A. Even when the clinico-pathological context did not suggest a classical extra-medullary haematopoiesis, it was not exceptional to identify immature haematopoietic cells. This hypothesis is supported by published data, which suggests that a local inflammatory state could help mesothelial cells to constitute a favourable environment for division and maturation of circulating haematopoietic progenitor cells.
