M. Popa, Z. Panti, M. Nica, M. Pleniceanu, B. Şerban, R. Ene and C. Cîrstoiu
Introduction. Giant cell tumors of soft tissue (GCTs) have a relatively low incidence and their low prognosis is reserved to local relapses and distant metastases. This type of pathology usually affects adults and the elderly and it is localized in the extremities, most frequently in the thigh. Materials and methods. GCT is a relatively low aggressive tumor; approximately 85% of the patients survive at least 5 years after diagnosis. The risk factors for low prognosis are old age, metastases at the time of diagnosis, local relapse. We conducted this study in the University Emergency Hospital, Bucharest for a period of 3 years, between 01.01.2015 and 01.01.2018, which included 20 patients with ages between 22 and 83 years, of whom 9 were women and 11 were men. Results. Excision with safety margins was performed for all patients. During surgery, tissue samples from 6 different areas were sent for extemporaneous examination. After excision, the histopathological examination was performed and the diagnosis of GCT was established. Localized forms were described in 16 cases; diffuse forms were identified in 4 cases and loco-regional recurrences in 3 cases. Pre or postoperative adjuvant treatment was not applied in any of the cases. Conclusions. GCT is a rare, potentially malignant pathology, in which case evolution is unfavorable. From the clinical and imaging point of view, it is difficult to establish this diagnosis due to the large variety of pathologies it can be mistaken for, making biopsy an essential step within the diagnostic algorithm. Election treatment is represented by local excision with safety margins.
Alexandru Papuc, Ioan Mihai Japie, Traian Ciobanu, Octavian Nutiu, Dragos Radulescu and Radu Radulescu
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Introduction. The aim of this study was to investigate several cases of giant cell tumor of bone (TCG), chondroblastoma and aneurysmal bone cyst (ABC) by immunohistochemistry (IHC) with a panel of markers: p63, S-100, CD68, CD56, DOG1, Galectin-1, D2-40, CD34, CD45 and ki-67, some of which proved to be specific for a certain entity. Material and methods. The cases were retrospectively selected from cases processed in our facility where the surgical excision material was histopathologically analyzed in optical microscopy using the usual staining hematoxylin and eosin. The immunohistochemistry exam was performed at INCDVB by indirect method avidin-biotin-peroxidase complex (C-DAB) with polyclonal antibodies (Dako) for S100; CD56, p63, DOG1, CD34, D2-40, CD45, ki67, and Galectin1 were performed in 14 cases out of which 10 were TGC, 3 chondroblastomas, and one primary ABC. Results. Five out of ten TGC investigated showed p63 diff use nuclear expression in the mononuclear cell. None of the 3 cases of chondroblastoma or ABC-primary or secondary (associated with the above mentioned tumors), expressed p63. Other variables, non-specifically encountered in all of the tumors, were emphasized by CD34 (vascular network), ki-67 (index of proliferation), CD45 (inflammatory infi ltrate). DOG1 expression was found positive in all chondroblastoma cases. Conclusions. p63 proved to be a useful biomarker in differentiating giant cell tumor of bone from central giant cell granuloma and other giant cell-rich tumors, especially chondroblastoma and ABC. Chondroblastoma was particularly rewarding in this investigation by demonstrating the dual immunohistochemical phenotype of the neoplastic cells, both chondroblastic (S-100, D2-40) and osteoblastic (CD56 and Galectin -1). DOG1, which is mainly used for the diagnostic of GIST, was found by many to be also specific, in the proper morphopathological context, for chondroblastoma.
A. Lupu, R. Ene, A. Cursaru, D. Anghelescu, E. Popescu and C. Cîrstoiu
Introduction. After a time when amputation was the only treatment option for musculoskeletal malignancies, a major breakthrough was the tumoral arthroplasty with limb preservation. Material and method. The study included a group of 28 patients, of whom 20 had pelvic limb tumor formation. Malignant bone tumors were present in 18 patients and benign tumors in 10 patients. The most commonly encountered was osteosarcoma in 12 patients, Ewing sarcoma in 4 patients and giant cell tumor in 3 patients. Patient follow-up was conducted within 4 years (with an average of 3-5 years). Results. 5 of our patients developed pulmonary metastases 8 months after surgery and, for 4 of the patients, pulmonary determinations were extirpated without subsequent relapse. The survival rate was 75% at the last follow-up (6 of 12 patients with osteosarcoma, 1 of 4 patients with Ewing’s sarcoma has died), and 32% had local tumor recurrence. The infection remains an inherent danger by using implants in immunosuppressed patients. 18% of the patients had amputations secondary to long-term complications involving the following prosthesis causes: vascular compromise, aseptic loosening, periprosthetic fractures, and metallosis. Sarcoma was associated with a higher infection rate. Radiotherapy and chemotherapy (not in combination) were statistically associated with an increased infection. Debridement with retention of the implant has reached a remission of the infection rate of 70%, 62% for two-step treatment to 100% in the case of amputations. Conclusions. Regardless of the stage of the tumor, amputation has a narrower indication nowadays, the goal being the retention of the limb and reconstruction. The amputation post-tumoral arthroplasty is of a primary intention in the case of aggressive local recurrences and massive infections. Staphylococcus aureus remains the bacterium with the highest incidence of infection complications.
Shaista Vasenwala, Noor Afshan Sabzposh, Hena Ansari, Nazima Haider, Shazia Parveen and Murad Ahmed
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Davudov Mahammad, Rahimov Chingiz, Ahmadov Elchin, Irannejad Farinaz and Qurbanov Vugar
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A Maver, G Čuturilo, Stojanović J Ruml and B Peterlin
transgenic mice resulted in stunted growth and neuromuscular deficits [ 15 ]. Somatic mutations in the H3F3 gene were reported in pediatric glioblastoma [ 16 ] and in giantcelltumors of the bone [ 17 ]. Furthermore, it was recently suggested that the pathogenic mechanism of germline histone mutations is distinct from that of the published cancer-associated somatic histone mutations, and may converge on control of cell proliferation [ 18 ].
In our patient, we identified a heterozygous de novo missense variant in the H3F3A gene (NM_002107.4: c. 185 T>G), which is