Tenosynovial giant cell tumor: a case report.

BACKGROUND: This case reports the synchronous diagnosis of two rare unrelated diseases; leiomyosarcoma and tenosynovial giant cell tumor of the knee. It focuses on the challenges of diagnosing tenosynovial giant cell tumor, including cognitive biases in clinical medicine that delay diagnosis. It also demonstrates the pathogenic etiology of tenosynovial giant cell tumor, evidenced by the transient deterioration of the patients' knee symptoms following the administration of prophylactic granulocyte colony-stimulating factor given as part of the chemotherapeutic regime for leiomyosarcoma. CASE PRESENTATION: A 37-year-old Caucasian man presented with a left groin lump and left knee pain with swelling and locking. Investigations including positron emission tomography-computed tomography and biopsy revealed leiomyosarcoma in a lymph node likely related to the spermatic cord, with high-grade uptake in the left knee that was presumed to be the primary site. His knee symptoms temporarily worsened each time granulocyte colony-stimulating factor was administered with each cycle of chemotherapy for leiomyosarcoma to help combat myelosuppressive toxicity. Subsequent magnetic resonance imaging and biopsy of the knee confirmed a tenosynovial giant cell tumor. His knee symptoms relating to the tenosynovial giant cell tumor improved following the completion of his leiomyosarcoma treatment. CONCLUSIONS: Tenosynovial giant cell tumor remains a diagnostic challenge. We discuss the key clinical features and investigations that aid prompt diagnosis. The National Comprehensive Cancer Network clinical practice guidelines for soft tissue sarcoma have recently been updated to include the pharmacological management of tenosynovial giant cell tumor. Our case discussion provides an up-to-date review of the evidence for optimal management of patients with tenosynovial giant cell tumor, with a particular focus on novel pharmacological options that exploit underlying pathogenesis.

Primary osteosarcoma of the spine: a review of 10 cases.

The authors describe 10 cases of osteosarcoma of the spine treated between January 1951 and December 2010, and obtained from the Tumour Registry of their hospital. The mean age at presentation was 38.8 years (range: 16-73 years); the mean duration of symptoms was 5.1 months (range: 3 weeks-1 year). Pain was the commonest complaint (9 patients), followed by neurological compromise (6 patients). The thoracic spine and male gender were predominant. Seven patients underwent marginal resection, 3 underwent intralesional resection. All, except one, had adjuvant chemotherapy and radiotherapy, pre- and/or postoperatively. This rare sarcoma has a dismal prognosis : the median survival period was only 23 years. The 1-year, 3-year and 5-year survival rates were 80%, 40% and 20%. Astonishingly, marginal resection (7 cases) did not lead to a longer survival than intralesional resection (3 cases): respectively 30 months and 42 months. Quite logically, local recurrence in 6 patients was linked to a survival of only 36 months, while the other 4 patients survived 52 months. Age below 40 was a positive factor, but not significantly. All patients had a reasonable quality of life with outcomes consistent with the available literature. Recent literature stresses that there is a trend toward improved survival with en bloc resection.

Primary osseous tumors of the hindfoot: why the delay in diagnosis and should we be concerned?

BACKGROUND: Bony tumors of the foot account for approximately 3% of all osseous tumors. Diagnosis is frequently delayed as a result of lack of clinician familiarity and as a result of their rarity. The reasons for the delays, however, are unclear. QUESTIONS/PURPOSES: We therefore determined (1) how hindfoot tumors present and the specific reasons for delay in diagnosis; (2) whether the spectrum of disease varies between the talus and calcaneus; and (3) how these patients were treated. METHODS: We retrospectively reviewed the medical notes and imaging for all patients with 34 calcaneal and 23 talar tumors recorded in the Scottish Bone Tumour Registry. Demographics, presentation, investigation, histology, management, recurrence, and mortality were recorded. RESULTS: Hindfoot tumors present with pain and often swelling around the heel (calcaneus) or ankle (talus), most often misdiagnosed as soft tissue injury. Calcaneal lesions were more likely to be malignant than talar lesions: 13 of 34 versus three of 23. CONCLUSIONS: Clinicians should be aware that hindfoot tumors can be initially misdiagnosed as soft tissue injuries and suspicion of a tumor should be raised in the absence of trauma or persistent symptoms. Lesions affecting the calcaneus are more likely to be malignant. Early diagnosis and adjuvant therapy are important. LEVEL OF EVIDENCE: Level IV, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.

Tophaceous gout of the patella: a report of two cases.

Introduction. Tophaceous gout of the patella is rare and may masquerade as a tumour or tumour-like condition. Cases. We report two patients with gout involving the patella, one complicated by a pathological fracture and the other occurring in a bipartite patella in a young adult. Discussion. Typical imaging appearances and measurement of serum urate will usually confirm the diagnosis but, occasionally, the serum urate level may be normal in active gout and in such cases, a biopsy will be required. Conclusion. Gout of the patella may masquerade as a tumour or tumour-like condition and it is important to consider gout in the differential diagnosis.

Bizarre parosteal osteochondromatous proliferation: a locally aggressive benign tumor.

BACKGROUND: Bizarre parosteal osteochondromatous proliferation (BPOP) is a benign lesion of bone, and numerous questions remain unresolved regarding its etiology, diagnosis, and treatment. QUESTIONS/PURPOSES: We present the Scottish Bone Tumour Registry experience of this rare lesion. PATIENTS AND METHODS: We performed a retrospective analysis of the Scottish Bone Tumour Registry records. Histologic specimens were reexamined by a musculoskeletal pathologist. Radiographs were reevaluated by a musculoskeletal radiologist. RESULTS: From 1983 to 2009, 13 cases (13 patients; six male, seven female) were identified. Their ages ranged from 13 to 65 years. All patients presented with localized swelling. Pain was present in five. Antecedent trauma was present in two. Nine lesions affected the hand, three the foot, and one the tibial tuberosity. Twelve lesions were excised and one was curetted. There were seven recurrences of which six were excised. One lesion recurred a second time and was excised. There were no metastases. Radiographs showed densely mineralized lesions contiguous with an uninvolved cortex. Cortical breakthrough was present in one case and scalloping in another. Histologic analysis characteristically showed hypercellular cartilage with pleomorphism and calcification/ossification without atypia, bone undergoing maturation, and a spindle cell stroma. CONCLUSIONS: BPOP is a rare benign lesion that probably is neoplastic, with no gender predilection, and affecting patients over a wide age range. Previously trauma was considered an etiologic factor, but this no longer seems to be the case. The rate of recurrence was 50%, which may indicate a more extensive resection is required for this locally aggressive lesion. No metastases were reported. BPOP should not be mistaken for, or treated as, a malignant tumor. LEVEL OF EVIDENCE: Level IV, retrospective case series. See Guidelines for Authors for a complete description of levels of evidence.

Ewing's family of tumors of the sinonasal tract and maxillary bone.

The Ewing's family of tumors (EFT) are malignant neoplasms affecting children and young adults. Most cases arise in the long bones or the pelvis. Primary EFT of head and neck is uncommon and primary sinonasal EFT is even rarer. Previous studies have not focused on the sinonasal region specifically, and the published literature on sinonasal EFT consists of sporadic case reports. Fourteen cases of sinonasal EFT were available and had H&Es for review and immunohistochemical stains for CD99, S100, keratins, synaptophysin and desmin. FISH or RT-PCR was performed for EWSR1 abnormalities on 8 cases. The 14 identified patients included 5 males and 9 females, ranging from 7-70 years of age (mean 32.4 years). Tumors involved nasal cavity (5), sinuses (5) or both (4). Five patients had dural, orbital or brain involvement. The majority involved bone radiologically and/or microscopically. All cases were composed of small cells with variable cytoplasmic clearing. Focal or prominent nesting was noted in most cases. All cases were positive for CD99. Keratins (AE1/3 and/or CAM5.2), S100 and synaptophysin were positive in 4, 3 and 5 cases, respectively. All cases were negative for desmin. The 8 cases tested by FISH or RT-PCR were positive for EWSR1 abnormalities. Follow-up in 8 patients ranged from 1-168 months (average 11.3 m) showing 1 death due to metastatic disease, 1 death due to local disease, 1 patient alive with metastases and 5 patients disease-free at last follow-up. Interestingly, however, an analysis of the literature suggests a better prognosis for sinonasal EFT than EFT overall.

Cryptic EWSR1-FLI1 fusions in Ewing sarcoma: potential pitfalls in the diagnostic use of fluorescence in situ hybridization probes.

Detection of EWSR1 translocations - particularly t(11;22)(q24;q12) - is of great value in the differential diagnosis of the Ewing family of tumors. We report two cases that highlight the problems and pitfalls of identifying Ewing tumors using conventional chromosome analysis and a commercial EWSR1 fluorescence in situ hybridization (FISH) probe. In both cases, the tumor karyotype was abnormal, but a visible t(11;22)(q24;q12) was not present. The commercial EWSR1 "break-apart" probe was not split in either case. Reverse-transcriptase polymerase chain reaction (RT-PCR) analysis, however, identified EWSR1-FLI1 fusion transcripts in both tumors, and the gene fusions were corroborated by FISH analysis with "in house" probes and confirmed by sequencing RT-PCR products. The occurrence of cryptic EWSR1-FLI1 fusions mandates that RT-PCR should be performed, particularly in those cases in which the genetic findings are not in agreement with the histologic picture.