An unusual case of clear cell sarcoma arising in the jejunum highlights the diagnostic value of molecular genetic techniques in establishing a correct diagnosis.
Explore the source record for details and available documents.
Antigens, Neoplasm↗
Biomedical subjects
I De Wever
Publications and source records attributed to I De Wever.
Changing phenotype of gastrointestinal stromal tumours under imatinib mesylate treatment: a potential diagnostic pitfall.
AIMS: The diagnosis of gastrointesinal stromal tumours (GISTs) is widely based on morphological features and KIT (CD117) immunoreactivity. Most patients with advanced GISTs show a major clinical response after treatment with imatinib mesylate. The histopathological features of GISTs in patients on prolonged imatinib treatment have, thus far, not been addressed in detail. In this report, we present three patients with metastatic GISTs, who received more than 1 year of therapy with imatinib, and whose tumours changed their morphological and immunohistochemical characteristics during continued treatment with the drug. METHODS AND RESULTS: All three primary GISTs from these patients were classical spindle-type tumours, showing diffuse, strong CD117, CD34, and focal alpha-smooth muscle actin expression. During treatment, two clinically progressive and one clinically stable GIST revealed a diffuse epithelioid, or pseudopapillary epithelioid growth pattern, characterized by rounded cells with eosinophilic cytoplasm and uniform round-to-ovoid nuclei. In addition, GIST specimens from patients on therapy showed complete loss of CD117 immunoreactivity. Remarkably, two of these tumours also became CD34 immunonegative and in one case the progression was accompanied by desmin expression. KIT mutational analysis revealed the presence of distinct exon 11 mutant isoforms in all cases examined, while the same genotype was sustained in the base line and on-therapy tumour specimens, proving the common origin of analysed specimens. CONCLUSIONS: GISTs subject to imatinib treatment can undergo striking (immuno)phenotypic changes, which are not necessarily corroborated by new genotypic modifications. Because these may mimic other tumour types, this feature creates a differential diagnostic challenge, of which the pathologist should be aware.
Actins↗
Fibrolipomatous hamartoma in the foot: atypical MR imaging findings.
Lipomatosis of a nerve is a well-known but uncommon entity mostly seen in the median nerve. Magnetic resonance imaging (MRI) has been shown to provide pathognomonic features, obviating the need for diagnostic biopsy. We present a case of lipomatosis of a branch of the medial plantar nerve with an atypical appearance on magnetic resonance imaging.
Adult↗
Delay in diagnosis of soft tissue sarcomas.
AIM: We reviewed 100 patients referred with soft tissue sarcoma between May 1999 to determine doctor- and patient-related delay. METHODS: Patient delay is defined as longer than one month from first symptoms till doctor's visit, doctor delay as longer than one month from first visit till definitive diagnosis. Sixty-eight patients had a multifactional delay. RESULTS: Forty-seven patients showed patient delay, with a median patient delay of 4 months, ranging from 2 to 240 months. The main reason for this delay is a painless mass that is mostly ignored. When pain is present, median patient delay is shorter.Twenty-seven patients experienced doctor delay, ranging from 2 to 79 months, with a median of 6 months. The most frequent reason was a misdiagnosis from the outset, on a clinical basis only, or due to a wrong diagnosis on ultrasound. Only two of these 27 patients had a biopsy, showing a benign tumour. High grade tumours are diagnosed earlier, 85% within 6 months. CONCLUSIONS: Delay in diagnosis of soft tissue sarcomas is still a problem requiring better patient and doctor education.
Adolescent↗
Complications of radiofrequency coagulation of liver tumours.
BACKGROUND: Radiofrequency coagulation (RFC) is being promoted as a novel technique with a low morbidity rate in the treatment of liver tumours. The purpose of this study was to assess critically the complication rates of RFC in centres with both large and limited initial experience, and to establish causes and possible means of prevention and treatment. METHODS: This is an exhaustive review of the world literature (articles and abstracts) up to 31 December 2001; 82 independent reports of RFC of liver tumours were analysed. RESULTS: In total, 3670 patients were treated with percutaneous, laparoscopic or open RFC. The mortality rate was 0.5 per cent. Complications occurred in 8.9 per cent: abdominal bleeding in 1.6 per cent, abdominal infection in 1.1 per cent, biliary tract damage in 1.0 per cent, liver failure in 0.8 per cent, pulmonary complications in 0.8 per cent, dispersive pad skin burn in 0.6 per cent, hepatic vascular damage in 0.6 per cent, visceral damage in 0.5 per cent, cardiac complications in 0.4 per cent, myoglobinaemia or myoglobinuria in 0.2 per cent, renal failure in 0.1 per cent, tumour seeding in 0.2 per cent, coagulopathy in 0.2 per cent, and hormonal complications in 0.1 per cent. The complication rate was 7.2, 9.5, 9.9 and 31.8 per cent after a percutaneous, laparoscopic, simple open and combined open approach respectively. The mortality rate was 0.5, 0, 0 and 4.5 per cent respectively. CONCLUSION: The morbidity and mortality of RFC, while low, is higher than previously assumed. With adequate knowledge, many complications are preventable.
Carcinoma, Hepatocellular↗
18-FDG PET scan in the staging of recurrent melanoma: additional value and therapeutic impact.
Staging of melanoma patients by means of whole body functional imaging in a single evaluation session using positron emission tomography (PET) with fluorine-18- labelled deoxy-d-glucose (FDG) as a metabolic tracer has created much interest over the last decade. After enthusiastic pilot studies, more attention has been paid to the false-negative and false-positive results of this technique than to its true therapeutic impact. This study aimed to evaluate (1) the sensitivity and specificity of this technique at a single lesion level compared with conventional screening procedures (CSP) - both of these accompanied by careful clinical examination; and (2) the additional value of the PET scan at the level of the individual patient and its therapeutic impact for different types of melanoma recurrence. A consecutive series of 100 PET scans performed on 84 melanoma patients with regional or distant recurrence according to CSP (89 PET scans) or suspicion of recurrence, i.e. inconclusive CSP (11 PET scans), were retrospectively analysed and compared with the CSP results. At the single lesion level, PET scan and CSP showed a sensitivity of 85 and 81%, a specificity of 90 and 87% and an accuracy of 88 and 84%, respectively. PET provided false-negative results for small skin metastases and brain involvement; false-positive results were associated with unrelated benign or malignant tumours and peripheral soft tissue and bone uptake. PET scan showed an additional value over and above CSP at the individual patient's level by true upstaging in 10 cases, true downstaging in 24 cases and depiction of more lesions within the same stage of disease in 15 cases. The overall therapeutic impact reached 26%: 17 out of 71 (24%) cases with regional recurrence, one out of 18 cases (5.5%) with distant metastasis and eight out of 11 cases (73%) with suspicion of recurrence where CSP remained doubtful. However, in 19 cases comparison between CSP and PET resulted in discordant findings, suggesting upstaging in one area and downstaging at another site within the same patient. In conclusion, PET scan has an additional value in the staging of recurrent melanoma, providing it is accompanied by careful clinical examination and specific brain imaging. However, in the absence of evidence of metastasis or unrelated conditions at the same site on CSP, PET spots may represent false-positive images, which would falsely upgrade a patient to an incurable state, or they may be early true-positive findings, which will become evident during close follow-up.
Adult↗
Sleeve-related thrombosis: a new form of catheter-related thrombosis.
In a detailed study of central venous catheter-related sleeve and thrombosis in experimental animals, a new form of thrombosis was detected and termed sleeve-related thrombosis. A silastic catheter was placed in the jugular vein and the anterior vena cava of 22 rabbits and 54 rats. After intervals of 1, 3, 7 days, 2, 3, 4 weeks and 1, 2, 4, 6 months the veins were examined by light microscopy and by transmission electron microscopy. In about 50% of the rats a thrombus was observed at the end of the catheter sleeve. Consecutive cutting allowed the visualization of a transition from a sleeve via part of sleeve and part of thrombus to a pure thrombus. This thrombus was separated from the vein wall and could not be considered a mural thrombus. As the thrombus was only attached to the terminal part of the organized catheter sleeve we propose the name sleeve-related thrombosis.
Animals↗
Angiomyxolipoma shares cytogenetic changes with lipoma, spindle cell/pleomorphic lipoma and myxoma.
Angiomyxolipoma is a rare variant of lipoma, two cases of which have recently been described. We report on the hitherto unreported clonal chromosomal changes of a third case of angiomyxolipoma. The karyotype showed a 46,XX,t(7;13)(p15;q14),t(8;12)(q13;p13)[17]/46,XX[3]. The involvement of 13q14, 12p13, and 8q13 supports a relationship with other types of benign lipomatous and myxoid tumors.
Angiomyolipoma↗
Cystic lymphangioma of the retroperitoneum.
Explore the source record for details and available documents.
Female↗
Peroperative intravasal electrographic control of catheter tip position in access ports placed by venous cut-down technique.
Explore the source record for details and available documents.
Catheters, Indwelling↗
Recurrent chromosome aberrations in fibrous dysplasia of the bone: a report of the CHAMP study group. CHromosomes And MorPhology.
The nosologic status of fibrous dysplasia (FD), a well-known and relatively common bone lesion, is controversial. Information collected by the CHromosomes And MorPhology (CHAMP) study group on published and unpublished cases of fibrous dysplasia shows the presence of clonal chromosome changes in at least a proportion of these lesions. The chromosome aberrations found in FD lesions have been quite variable and have included both structural and numerical changes. Two of the three cases investigated at the study group had trisomy 2 as the sole acquired anomaly. Combined with previously published data, +2 and rearrangements involving chromosome band 12p13 have each been detected in 3 of 8 cases with abnormal karyotype of 11 in which chromosomal analysis has been performed, suggesting that FD is a neoplastic lesion rather than a "dysplastic" process, as has been generally believed and as implied by its very name.
Adolescent↗
Comparative cytogenetic study of spindle cell and pleomorphic leiomyosarcomas of soft tissues: a report from the CHAMP Study Group.
Leiomyosarcomas (LMS) of soft tissues frequently show complex karyotypic changes, and no specific aberration has been identified. The aim of this study was to search for recurrent chromosome aberrations in soft tissue LMSs and to correlate these, if present, with morphological and clinical parameters. From a series of soft tissue sarcomas thoroughly reexamined cytogenetically and histopathologically, 45 LMSs were retrieved; 35 were classified microscopically as spindle cell, 3 as epithelioid, and 7 as pleomorphic. Clonal chromosome changes were present in 14, 3, and 3 cases, respectively. This series was combined with 11 previously published, karyotypically abnormal pleomorphic LMSs for cytogenetic-clinico-histopathological correlations. The breakpoints were widely scattered, with no predilection of any of the recurrent breakpoints and losses to any of the morphologic subtypes. Combining numerical and unbalanced structural changes, the most frequently lost segments were 3p21-p23 (11 cases), 8p21-pter, 13q12-q13, 13q32-qter (10 cases each), 1q42-qter, 2p15-pter, 18p11 (9 cases each), 1p36, 11q23-qter (8 cases each), and 10q23-qter (7 cases). The most frequent gain was 1q12-q31 (6 cases). There was a greater frequency of losses in 1p and 8p and a lower frequency of losses in 10q and 13q in tumors that had metastasized than in localized tumors. We conclude that LMSs with clonal abnormalities display highly complex karyotypic changes and extensive heterogeneity. No significant correlation exists between these changes and age and sex of the patients, or with depth of tumor, topography, microscopic subtype, or tumor grade. Losses in 1p36 and 8p21-pter may be associated with increased risk of metastases. Comparison of our findings in soft tissue LMS with those previously reported in LMS in other locations suggest that the karyotypic profile is more dependent on site of origin than on microscopic features.
Adult↗
Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study group.
The findings of characteristic, sometimes pathognomonic, chromosome aberrations in several types of soft tissue tumours have not only added to our understanding of the mechanisms behind the genesis of these tumours, but have also revealed the importance of cytogenetic analysis as a diagnostic tool. For many soft tissue tumours, including peripheral nerve sheath tumours, the number of analysed cases is, however, still very low, precluding evaluations of the clinical or biological significance of different chromosomal patterns. As part of an ongoing project aiming at identifying clinical-histopathological-cytogenetic correlations among soft tissue tumours, a series of 46 benign, the vast majority of which were located in the extremities, and 20 malignant peripheral nerve sheath tumours (BPNSTs and MPNSTs, respectively) that had been successfully analysed by chromosome banding techniques were evaluated with regard to clinical, morphological, and cytogenetic features. Clonal chromosome aberrations were found in 20 BPNSTs, with abnormal karyotypes being significantly more frequent among Schwannomas than among neurofibromas. Recurrent aberrations, all of which were confined to the Schwannoma subtypes, included loss of 22q material, loss of a sex chromosome, and trisomy 7. The results show that the cytogenetic features of Schwannomas are not dependent on the site of origin. The MPNSTs, all of which had clonal chromosome aberrations, displayed complex karyotypes with numerous structural and numerical changes, except in two cases showing +7 and -22, respectively, as the sole changes. None of the recurrent imbalances was restricted to either NF1-associated or sporadic MPNST, nor was any of the imbalances significantly associated with clinical outcome. The presence of a triploid or tetraploid clone was, however, associated with grade 3 tumours and a poor prognosis. The cytogenetic findings in peripheral nerve sheath tumours show that the karyotype is a good discriminator between BPNSTs and MPNSTs, and that the pattern of aberrations among the latter may add prognostic information.
Adolescent↗
Treatment of VX2 liver tumor in rabbits with "wet" electrode mediated radio-frequency ablation.
Radio-frequency ablation (RFA) has been considered as an alternative therapy for liver tumors. A "wet" electrode with interstitial infusion of hypertonic saline was tested for the RFA of liver tumor in rabbits. Seventy-eight liver tumors ( 1.5 to 3.0 cm) were induced in 41 rabbits by VX2 carcinoma implantation. Fifty-one tumors in 27 rabbits were treated with RFA. Under laparotomy, the RF energy was delivered while 5 % saline was infused through the electrode into the tumor at 1 ml/min. Six rabbits with 12 tumors were treated with only intratumoral 5 % saline infusion without RFA. Another 8 rabbits with 15 tumors received sham operation as untreated controls. The efficacy of the therapy was evaluated with survival rate, MRI, microangiography, and histopathology. In the RFA group, 6 rabbits survived longer than 6 months (absolute eradication rate 22.2 %); 12 rabbits were found free of viable tumor at the moment when they were sacrificed (relative eradication rate 44.4 %); 9 rabbits showed local tumor relapse and/or lung metastasis 2-10 weeks after ablation (recurrent rate 33.3 %). In control groups of saline infusion and sham operation, all 14 rabbits died within 3 months (mortality rate 100 %). Three-month survival rates between RFA group and control groups were significantly different (p < 0.05). Findings of MRI, microangiography, and histology supported these outcomes. Radical treatment of liver malignancy in rabbits is possible with the present modified RFA technique. Its clinical usefulness has to be further proven.
Animals↗
Cytogenetic, clinical, and morphologic correlations in 78 cases of fibromatosis: a report from the CHAMP Study Group. CHromosomes And Morphology.
Whether fibromatoses are neoplastic or reactive lesions has long been controversial and the relationship, if any, between the superficial and deep forms (desmoid tumors) are poorly understood. Clinical, pathologic, and cytogenetic data of 78 cases of fibromatosis were analyzed and correlated with each other. The results demonstrate that clonal chromosome aberrations are a common feature of this entity, being present in 46% of desmoid tumors, although less frequent in the superficial types (10%). In the deep-seated extra-abdominal fibromatoses, trisomies 8 and 20 and loss of 5q material were the only recurrent features. No correlation between +8 and local recurrence was found. Our findings provide additional evidence for the neoplastic nature of fibromatoses.
Adult↗
Cytogenetic-morphologic correlations in aneurysmal bone cyst, giant cell tumor of bone and combined lesions. A report from the CHAMP study group.
Aneurysmal bone cyst and giant cell tumor of bone are relatively rare bone tumors that sometimes coexist. We examined the karyotypes of 3 aneurysmal bone cysts, 12 giant cell tumors, and 3 combined lesions. All aneurysmal bone cysts showed involvement of chromosome segments 17p11-13 and/or 16q22. In addition, in 1 of the 3 giant cell tumors with secondary aneurysmal bone cyst, both chromosome bands were rearranged as well, albeit not in a balanced translocation. Seven out of 12 giant cell tumors were characterized by telomeric associations. One giant cell tumor showed a dup(16)(q13q22), suggesting the presence of a (minor) secondary aneurysmal bone cyst component, despite the absence of histological proof. Our results, combined with literature data further substantiate that segments 16q22 and 17p11-13 are nonrandomly involved in at least some aneurysmal bone cysts, irrespective of subtype (primary, secondary, intra/extraosseous, solid or classic). These findings strongly suggest that some aneurysmal bone cysts are true neoplasms. In addition, telomeric associations are the most frequent chromosomal aberrations in giant cell tumor of bone, the significance of which remains elusive. In combined giant cell tumor/aneurysmal bone cyst each component seems to retain its own karyotypic abnormality.
Adolescent↗
Cytogenetic evidence of clonality in cutaneous benign fibrous histiocytomas: a report of the CHAMP study group.
AIMS: Cutaneous benign fibrohistiocytic tumours are among the most common soft tissue lesions. Their biological nature, in particular whether they are neoplastic or reactive, has long been disputed. Some morphological subtypes can be confused with sarcoma. Since available karyotypic data in these lesions are scarce, this study was undertaken to determine whether their cytogenetic analysis might demonstrate clonality and might help in differential diagnosis. METHODS AND RESULTS: Thirteen karyotyped benign cutaneous fibrous histiocytomas (BFH) were morphologically reassessed and classified as ordinary BFH (eight cases), cellular BFH (four cases), and one ankle-type lesion. Five cases (38%) showed clonal cytogenetic changes, although the aberrations varied and did not correlate with histological subtypes. Karyotypic aberrations were more common in cellular BFH (3/4) than in the ordinary BFH (2/8). CONCLUSIONS: The demonstration of clonal chromosome abnormalities, in at least some cases, supports the neoplastic nature of cutaneous BFH. The karyotypic changes identified are different from those in dermatofibrosarcoma, with which cellular BFH is often confused histologically.
Adolescent↗
Minimal deviation and/or naevoid melanoma: is recognition worthwhile? A clinicopathological study of nine cases.
One to two per cent of primary cutaneous melanomas share clinical features with benign melanocytic and non-melanocytic skin lesions, and even at histology recognition of their malignant nature is problematic, mainly due to the lack of an intraepithelial component, their nodular aspect and the monotonous cell population throughout the lesion. These tumours were termed minimal deviation melanomas (MDMs) by Reed et al. and later naevoid melanomas by Schmoeckel et al. The name MDM suggests the concept of a more favourable outcome for these melanomas that do not (yet) show the typical features of fully evolved lesions able to metastasize, although naevoid melanomas seem to behave like 'common' melanomas. In a retrospective analysis of nine cases of MDM collected from our database and followed for a median duration of 112 months, we faced similar clinical and histological pitfalls and observed local recurrence following marginal resection. Wide excision, even of local recurrence, and therapeutic node dissection could nevertheless provide survival comparable at least to that predicted by mathematical models for patients who initially had optimal treatment.
Adult↗