Intramedullary, periosteal, and extraskeletal Ewing sarcomas: retrospective study of a series of 126 cases in a reference center.

OBJECTIVE: To evaluate the proportion of extraskeletal, periosteal, and intramedullary Ewing sarcomas among musculoskeletal Ewing sarcomas. MATERIAL AND METHOD: Our single-center retrospective study included patients with musculoskeletal Ewing sarcoma diagnosed between 2005 and 2019 in our pathology center (cases from our adult bone tumor referral center and adult and pediatric cases referred for review). Recurrences, metastases, and visceral Ewing sarcomas were excluded. Intramedullary Ewing sarcomas were defined by involvement of the medullary cavity. Periosteal cases were defined by involvement of the subperiosteal area without extension to the medullary cavity. Extraskeletal cases were defined by the absence of involvement of the bone tissue and the subperiosteal area. RESULTS: Our series included 126 patients with musculoskeletal Ewing sarcoma, including 118 skeletal Ewing sarcomas (93.7%) and 8 extraskeletal Ewing sarcomas (6.3%). Of the 118 skeletal Ewing sarcomas 112 were intramedullary (88.9%) and 6 were periosteal (4.8%). Extraskeletal Ewing sarcomas were more common in women and in patients older than 40 (p < 0.05). DISCUSSION: The 6.3% proportion of extraskeletal Ewing sarcoma is lower than the median of 30% estimated from the literature. This difference could be explained by an overestimation of extraskeletal Ewing sarcomas of the chest wall (Askin tumors), an underestimation of periosteal cases confused with extraskeletal cases, and the presence of "Ewing-like" soft tissue sarcomas in previous series. Because of its prognostic and therapeutic impact, the distinction of morphologic subtypes requires the cooperation of experienced radiologists and pathologists.

Parosteal osteosarcoma associated with a low-grade component mimicking well-differentiated liposarcoma: a case report.

Parosteal osteosarcomas and well-differentiated liposarcomas are both well-differentiated locally aggressive tumors. They both have simple karyotypes with amplification of the 12q13-15 regions including MDM2 and CDK4 genes. In this report, we describe the case of a parosteal osteosarcoma intertwined with a low-grade component similar to a well-differentiated liposarcoma. The association of a bone component with an adipose component was initially overlooked. We describe the histological, imaging, and molecular characteristics of this tumor stressing the importance of radio-pathological correlation. To our knowledge, this is the second report of a parosteal osteoliposarcoma. Awareness of this rare presentation may allow radiologists and surgeons to recognize the peripheral fatty component as an integral part of the tumor.

Therapeutic outcome of CT-guided radiofrequency ablation in patients with osteoid osteoma.

OBJECTIVE: To assess the long-term outcome of computed tomography-guided radiofrequency ablation (CT-guided RFA) in patients with suspected osteoid osteoma (OO). MATERIALS AND METHODS: Single-center retrospective study. Patients with clinical suspicion and imaging diagnosis of osteoid osteoma were treated by CT-guided RFA using the same device with either a 7- or 10-mm active tip electrode. Specific precautions were applied in case of articular or spinal OO. Patients were contacted by phone to evaluate the long-term outcome in terms of pain, ability to perform daily activities (including sports), and long-term complications. Success was defined as the absence of residual pain and ability to perform daily activities normally. RESULTS: From 2008 to 2015, 126 patients were treated by CT-guided RFA for OO in our institution. Mean patient age was 26.1 years (SD = 11, range 1-53); mean delay to diagnosis was 16.9 months (SD = 15.2, range 1-120). Among patients who answered the follow-up call (n = 88), the overall success rate was 94.3%: 79/88 (89.8%) had primary success of the procedure, and 4/88 (4.5%) had a secondary success (repeat-RFA after pain recurrence). Mean follow-up time was 34.6 months (SD = 24.7, range 3-90). Few complications occurred: two mild reversible peripheral nerve injuries, one brachial plexus neuropathy, one broken electrode tip fragment, and one muscular hematoma. CONCLUSION: Osteoid osteoma can be effectively and safely treated by CT-guided RFA using the presented ablation protocol. Beneficial effects of the treatment persist at long-term follow-up.

The appropriate and sequential value of standard radiograph, computed tomography and magnetic resonance imaging to characterize a bone tumor.

Radiographs (XR), computed tomography (CT) or magnetic resonance imaging (MRI) are regularly analyzed to determine whether a bone lesion is benign or malignant. An online quiz was created providing 15 cases with a clinical summary, MRI, CT, and XR. After each image, participants were asked to rate the probability (0-100%) the bone tumor was malignant. Order and difficulty of the images were randomly determined. Probability statements regarding the diagnosis were actualized along the sequence of exam, to quantify how the degree of belief changed to account for evidence from those exams. 64 physicians participated and provided 154 assessments from 1 (n = 18) to 3 (n = 44) different cases. After the first image, participants favored the correct malignancy status at 70%; 80% after the second and 80% after the third one. Participants were more likely to favor the correct malignancy status when the lesion was malignant and when first confronted with XR or CT, rather than MRI, though the most predictive factor of correct diagnosis was the difficulty of the case. In conclusion, the additional information provided by successive imaging studies was moderate. XR or CT seemed more appropriate than MRI as first imaging study. Bypassing XR should be discouraged.

Protuberant fibro-osseous lesion of the temporal bone: report of four cases and review of the literature.

'Bullough lesions', also referred to as protuberant fibro-osseous lesions (PFOL), are rare temporal bone lesions initially described in 1999. Since only 12 cases have been reported, several key issues, such as their origin and recommended management strategies, remain unresolved. This article reports the largest cohort included in the literature to date, comprising four patients with PFOL. PFOL appears to be characterized by female and right-side predominance. These lesions were consistently located regarding the mastoid, generally diagnosed in early adulthood, without functional symptoms, and were always fibro-osseous. Invasive/malignant features were not found on imaging or histology. The main differential diagnosis was malignant low-grade parosteal osteosarcoma. Clinical examination and computed tomography images provided strong elements supporting the diagnosis of PFOL. Biopsy allowed molecular biology investigations (MDM2 and CDK4 amplification), in order to rule out low-grade parosteal osteosarcoma.

Early skin biopsy is helpful for the diagnosis and management of neonatal and infantile erythrodermas.

BACKGROUND: Erythrodermas are often life-threatening conditions in infants. Determination of the underlying cause is crucial. Microscopic changes in adult erythroderma lack specificity. OBJECTIVE: To determine if an early skin biopsy is helpful for the diagnosis of neonatal and infantile erythroderma. METHODS: Seventy-two patients admitted for erythroderma in the first year of life were retrospectively included. One hundred and eleven skin biopsies (12-year period) were examined by 3 pathologists blinded to the clinical diagnosis, and classified into atopic dermatitis, immunodeficiency (ID), psoriasis, Netherton syndrome (NS), ichthyosis, other. From year 2000, LEKTI antibody was performed when NS was suspected. Pathological diagnosis was then compared with clinical diagnosis. RESULTS: The final diagnosis was made in 69.3% of the cases. In 57.6%, pathological diagnosis was in accordance, and in 11.7%, it was in accordance, but other diagnosis had also been proposed. For ID, sensitivity and specificity were 58.5 and 98.5%, respectively. Before year 2000, NS was frequently misdiagnosed with psoriasis, but with the use of LEKTI antibody, sensitivity and specificity were 100%. CONCLUSION: Skin biopsy is helpful for etiologic diagnosis of early erythroderma of infancy, particularly in ID and NS, the most severe diseases. Consequently, these results justify an early systematic skin biopsy for a better and earlier management.

Usefulness of routine intraoperative staging of suspicious adnexal tumours: illustration by two cases of adult granulosa cell tumour.

Granulosa cell tumours (GCTs) account for less than 3% of all ovarian malignancies but are among the most common sex cord-stromal tumours. They may develop at any age. Symptoms related to oestrogen production by the tumour may occur. Because GCTs are uncommon and cannot be diagnosed preoperatively, their management is challenging. Surgery with salpingo-oophorectomy and painstaking staging is mandatory. Adjuvant chemotherapy is required in some patients. We report two cases of adult GCTs that illustrate the usefulness of extensive abdominal exploration in every patient with a suspicious ovarian mass, to obviate the need for a second staging procedure. With this strategy, the prognosis is excellent, although the possibility of late recurrences requires prolonged follow-up.

[Dedifferentiated chondrosarcoma: radiologic-pathologic correlation]. / Chondrosarcomes dédifférenciés: revue iconographique radio-pathologique.

Dedifferentiated chondrosarcomas are highly malignant tumors characterized by conventional low-grade chondrosarcoma with abrupt transition to foci that have dedifferentiated into a higher-grade noncartilaginous more aggressive sarcoma. The dedifferentiated component, an osteosarcoma or fibrosarcoma, determines the prognosis. Its identification is key for management. A diagnosis of dedifferentiated chondrosarcoma should be suggested by the presence of "tumoral dimorphism" with cartilaginous component and aggressive lytic component invading adjacent soft tissues.

[Update on malignant nonepithelial ovarian tumours]. / Tumeurs non épithéliales malignes de l'ovaire.

Malignant nonepithelial ovarian tumours represent less than 20% of ovarian cancers in adults. Apart from haematological tumours, there are mainly germ cell tumours and sex cordstromal ovarian tumours. These tumours affect young women and are diagnosed in early stages associated with a good prognosis. The management of malignant nonepithelial ovarian tumours is difficult because they are rare and because we have to propose an appropriate oncological treatment, preserving fertility for these women of child-bearing age. We propose an update on recent data in the literature, focusing on management.

An odd and serious "disc bulging"!

BACKGROUND AND IMPORTANCE: Cauda equina syndrome is a common acute medical condition, usually caused by large degenerative disc herniation or metastatic lumbar disease. We describe a patient who presented with a lesion featuring both discal and tumoral characteristics. CLINICAL PRESENTATION: A 41-year-old woman presented with ongoing back pain, progressive lower-limb weakness and sphincter disorder. Magnetic resonance imaging showed a very odd-looking large anterior epidural lesion originating from the L3-L4 space and severely compressing the roots of the cauda equina. Partial surgical decompression was performed in emergency. At a later time, redo surgery was performed to maximize resection, and was unfortunately followed by several complications. After 6 surgical procedures including a ventriculo-peritoneal shunt insertion and intensive rehabilitation, the patient could walk independently with the aid of one crutch. Following collegial review, the diagnosis of low-grade chondrosarcoma of the intervertebral disc was suggested. CONCLUSION: We report on a very unusual and therapeutically challenging spinal tumor diagnosed as low-grade chondrosarcoma of discal origin, an entity never previously described.

Sentinel lymph nodes in endometrial cancer: is hysteroscopic injection valid?

We aimed to describe hysteroscopic peritumoral tracer injection for detecting sentinel lymph nodes (SLNs) in patients with endometrial cancer and to evaluate tolerance of the procedure, detection rate and location of SLNs. Five patients with early endometrial cancer underwent hysteroscopic radiotracer injection followed by lymphoscintigraphy, then by surgery with hysteroscopic peritumoral blue dye injection, and radioactivity measurement using an endoscopic handheld gamma probe. SLNs and other nodes were sent separately to the pathology laboratory. SLNs were evaluated by hematoxylin-eosin-saffron staining and, when negative, by immunohistochemistry. Tolerance of the injection by the patients was poor (mean visual analog scale score, 8/10). SLNs were detected in only two patients (external iliac and common iliac+paraaortic, respectively). Detection rates were 1/5 by radiotracer, 1/5 by dye, and 2/5 by the combined method. One SLN was involved in a patient whose other nodes were negative. In three patients no SLNs were found by radiotracer or blue dye. Of the 83 non sentinel nodes removed from these patients, none was involved. Hysteroscopic peritumoral injection may be more difficult than cervical injection and, in our experience, carries a lower SLN detection rate.

Expression of interleukin-27 by human trophoblast cells.

Cytokines produced at the fetal-maternal interface play a key role in regulating maternal tolerance to the fetus and successful pregnancy. Previously, we showed that EBV-induced gene 3 (EBI3), an interleukin (IL)-12 p40 homologue, was expressed at very high levels by syncytiotrophoblasts and extravillous trophoblasts throughout human pregnancy. EBI3 was recently shown to associate with a novel ligand, p28, to form a new heterodimeric cytokine with important immunoregulatory functions, IL-27. In this study, we investigated whether EBI3 expression by trophoblast cells is associated with that of p28 to form IL-27. We found that genes encoding IL-27 (EBI3 and p28) and its receptor (IL-27R and gp130) were expressed in the placenta at various stages of pregnancy. Co-immunoprecipitation experiments performed from placental lysates, and ELISA of culture supernatants from placental explants, showed that IL-27 heterodimer was produced and released from placental cells. In situ studies of placentae of first, second and third trimester of pregnancy, and of choriocarcinomas, demonstrated that syncytiotrophoblast cells co-expressed EBI3 and p28. Similarly, extravillous trophoblast cells invading the decidua were found to co-express both subunits of IL-27. These data suggest that IL-27 may be part of the cytokine network regulating local immune responses and angiogenesis during human pregnancy.

[Multicentric giant-cell tumor]. / Tumeur à cellules géantes multifocale.

Nearly all (99) giant-cell tumors are solitary. The multicentric presentation is exceptional and not well elucidated. We report the case of a patient presenting five foci identified over an eleven-year period (right tibia, left 4th metacarpal, sacrum, right femur, left femur). The proliferation index was identified for each focus. A review of the literature shows that the development of a new center after treatment for giant-cell tumor is a well-known event, with a wide variability in localizations, number and time to development. The most recent data suggest that each center would be independent progressing according to an individual course. Since histological transformation is not observed and multicenter forms are very exceptional, we suggest that it would not be necessary to propose specific screening for patients with a giant-cell tumor but that it would be good to inform the patient of the possibility of multicentric presentations.

Proximal femoral osteosarcoma: Diagnostic challenges translate into delayed and inappropriate management.

BACKGROUND: The proximal femuris is an uncommon site of osteosarcoma. The unusual manifestations at this site may lead to diagnostic and therapeutic mistakes. We therefore performed a retrospective study to estimate the proportions of patients with imaging study findings and/or clinical manifestations typical for osteosarcoma and/or inappropriate treatment decisions. HYPOTHESIS: Proximal femoral osteosarcoma often produces atypical clinical and radiological presentations. MATERIAL AND METHODS: Consecutive patients who underwent surgery at our center to treat proximal femoral osteosarcoma were included. For each patient, we collected the epidemiological characteristics, clinical symptoms, imaging study findings, treatment, and tumor outcome. Proportions were computed with their confidence intervals. RESULTS: Twelve patients had surgery for proximal femoral osteosarcoma between 1986 and 2015. Imaging findings were typical in 1 (8%) patient; they consisted of ill-defined osteolysis in 11/12 (92%) patients, a periosteal reaction in 1/12 (8%) patient, soft tissue involvement in 7/12 (58%) patients, and immature osteoid matrix in 11/12 (92%) patients. No patient had the typical combination of pain with a soft tissue swelling. Management was inappropriate in 2/12 (17%) patients, who did not undergo all the recommended imaging studies before surgery and were treated in another center before the correct diagnosis was established. At last follow-up, 4 patients had died (after a mean of 7 years) and 8 were alive (after a mean of 4 years). CONCLUSION: Proximal femoral osteosarcoma is uncommon and rarely produces the typical clinical and imaging study findings. The atypical presentation often results in diagnostic errors and inappropriate treatments. Ill-defined osteolysis on standard radiographs should prompt computed tomography or magnetic resonance imaging of the proximal femur. Treatment in a specialized center is imperative. LEVEL OF EVIDENCE: IV, retrospective study.

Dedifferentiated primary mediastinal liposarcoma mimicking a thymic tumor.

Mediastinal tumors are heterogeneous and the diagnosis depends on their location in the mediastinum. The most frequent tumors are germinal tumor, lymphoma and thymoma. The clinical and radiological aspects are often not sufficient to orient the diagnosis and biopsy is necessary to confirmed it. Here, we present a rare case of an anterior mediastinal mass incidentally detected in a 63 years old man during assessment for asthma. The lesion was presumptively diagnosed as a thymic epithelial tumor based on location and radiological characteristics. Surgical biopsy revealed a primary dedifferentiated mediastinal liposarcoma with multiple lung metastases.

Performance of laparoscopy in identifying malignant ovarian cysts.

BACKGROUND: Peroperative identification of malignancy is crucial to management planning for ovarian cysts. The aim of this study was to evaluate the performance of laparoscopy in identifying malignant ovarian cysts. METHODS: Patients undergoing laparoscopy for ovarian cysts from 1998 to 2001 were enrolled prospectively. Physical findings, Doppler ultrasonography, and serum CA 125 served to compute two risk-of-malignancy indexes (RMI-1 and RMI-2), and laparoscopy findings served to categorize lesions as benign, possibly malignant, or malignant. Frozen sections were examined as needed. Final histology was the reference. RESULTS: Of 313 patients, 294 had benign cysts, six borderline lesions, and 13 malignancies. Sensitivity and specificity were respectively 84 and 93% for RMI-1, 92 and 80% for RMI-2, 100 and 99% for laparoscopy, 91 and 100% for frozen sections, and 100 and 100% for laparoscopy plus frozen sections, which had 100% negative predictive value. Six (1.8%) adverse events occurred. CONCLUSIONS: Laparoscopy reliably identifies ovarian cancer and borderline disease. Morbidity is low compared to oncologic surgery.

Sentinel node biopsy helps to diagnose spread of endometrial cancer. A case report.

BACKGROUND: The sentinel lymph node (SLN) could improve the staging of endometrial cancer. CASE: In a patient with endometrial cancer, preoperative lymphoscintigraphy showed a highly radioactive SLN in the left external iliac chain and a radioactive SLN in the right external iliac chain and at the promontory. Intraoperative lymphatic mapping using blue dye and a hand-held gamma probe showed the same nodes, as well as a blue node near the vena cava. Selective removal of these nodes allowed detection of a micrometastasis in the left external iliac node. Pelvic node dissection was performed, and a micrometastasis was found in a left non sentinel iliac node. CONCLUSION: The presence in our patient of micrometastases in a SLN and in a non-SLN belonging to the same chain confirms the value of SLN detection for diagnosing tumor spread.

[Renal oncocytoma: CT diagnostic criteria revisited]. / Adénome oncocytaire du rein: redéfinition des critères diagnostiques en tomodensitométrie.

PURPOSE: To redefine and evaluate the computed tomographic criteria for the diagnosis of renal oncocytoma (RO) for which renal sparing surgery should be preferred. MATERIAL AND METHOD: Retrospective study of 57 patients with 69 RO. Macroscopic and histological correlation was obtained in all cases. A double blinded comparative study was made of 60 renal tumors (containing adenocarcinomas and oncocytomas) larger than 3 cm in diameter in order to evaluate the redefined CT diagnostic criteria. RESULTS: Among RO larger than 3 cm in diameter, 55% presented a sharply defined low attenuation scar on post-contrast scans at the tubular nephrographic phase, central or eccentric, with homogeneous attenuation throughout the remainder of the hypervascular tumor which was classified in 3 different groups. The use of our CT diagnostic criteria gave a statistically significant (p < 0.05) Kappa index of inter-observer concordance of 0.71 and a specificity of 96% for the diagnosis of RO. CONCLUSION: Our redefined computed tomographic criteria for the diagnosis of renal oncocytoma, eventually associated with renal biopsy, should increase the indications for renal sparing surgery for RO larger than 3 cm in diameter.