scholarly journals Malignant Paragangliomas Associated with Mutations in the Succinate Dehydrogenase D Gene

2007 ◽  
Vol 92 (4) ◽  
pp. 1245-1248 ◽  
Author(s):  
B. Havekes ◽  
E. P. M. Corssmit ◽  
J. C. Jansen ◽  
A. G. L. van der Mey ◽  
A. H. J. T. Vriends ◽  
...  

Abstract Introduction: Malignant paragangliomas have been well described in carriers of mutations of the succinate dehydrogenase B (SDHB) gene, but have rarely been associated with mutations in the succinate dehydrogenase D (SDHD) gene. Aim: The aim of the study was to report the different clinical expression patterns of malignant paragangliomas in five patients with SDHD (D92Y) mutations observed in approximately 200 SDHD (D92Y) mutation carriers followed in our institution. Results: Metastasis and/or local tumor invasion was documented 0 (n = 2), 1, 18, and 30 yr after the initial diagnosis of paraganglioma. Malignancy was proven by paraganglioma bone metastases (n = 2), intrathoracic paraganglioma with lymph node metastases, locally invasive head-and-neck paraganglioma with destruction of the petrosal bone, and locally invasive paraganglioma of the bladder with lymph node metastases. Four of the five patients developed catecholamine excess during follow-up due to intraadrenal paraganglioma (pheochromocytoma) (n = 1), extra adrenal paraganglioma (n = 2), and presumed subclinical disease (n = 1). Conclusion: SDHD mutations (D92Y) are associated with malignant paragangliomas and catecholamine excess with remarkable interindividual variations despite the same mutation. We estimate that the prevalence of malignancy in carriers of D92Y mutations is at least 2.5%.

1999 ◽  
Vol 17 (5) ◽  
pp. 1508-1508 ◽  
Author(s):  
Jeffrey D. Wagner ◽  
Donald Schauwecker ◽  
Darrell Davidson ◽  
John J. Coleman III ◽  
Scott Saxman ◽  
...  

PURPOSE: To prospectively compare positron emission tomography (PET) imaging of regional lymph node basins to sentinel node biopsy (SNB) in patients with American Joint Committee on Cancer (AJCC) stage I, II, and III melanoma localized to the skin. METHODS: Patients with cutaneous melanoma with Breslow's depth greater than 1 mm (AJCC T2-4N0M0) or localized regional cutaneous recurrence (TxN2bM0) underwent whole-body imaging of glucose metabolism with fluorodeoxyglucose (FDG) PET followed by SNB. PET scans were interpreted in a blinded fashion and compared with histologic analyses of SNB specimens and clinical follow-up examination. Nodal tumor volumes were estimated. RESULTS: Eighty-nine lymph node basins were evaluated by FDG-PET and SNB in 70 assessable patients. Eighteen patients (25.7%) had lymph node metastases at the time of FDG-PET imaging: 17 proved by SNB (24.3%) and one by follow-up examination (1.4%). Median tumor volume in positive sentinel node basins was 4.3 mm3 (range, 0.07 to 523 mm3). Sensitivity of SNB for detection of occult regional lymph node metastases was 94.4%, specificity was 100%, positive predictive value (PPV) was 100%, and negative predictive value (NPV) was 98.6%. Sensitivity of FDG-PET was 16.7%, specificity was 95.8%, PPV was 50%, and NPV was 81.9%. At a median follow-up duration of 16.6 months, seven patients (10%) developed recurrent disease. PET predicted one recurrence (14.3%) in a node basin missed by SNB. CONCLUSION: FDG-PET is an insensitive indicator of occult regional lymph node metastases in patients with melanoma because of the minute tumor volumes in this population. FDG-PET does not have a primary role for staging regional nodes in patients with clinically localized melanoma.


2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 8535-8535 ◽  
Author(s):  
Christiane A. Voit ◽  
Alexander Christopher Jonathan Van Akkooi ◽  
Saskia Gooskens ◽  
Petra Siegel ◽  
Gregor Schaefer-Hesterberg ◽  
...  

8535 Background: US-guided-FNAC prior to surgical SN staging is emerging as a possible cost-effective addition to the staging of melanoma patients (pts). Formerly, sensitivity (sens) rates of lymph node US in melanoma were disappointing (20–40%). The introduction of the Berlin Morphology Criteria has significantly improved sens rates for US-FNAC (J Clin Oncol 2010;28(5):847-52). The aim of the current study was to report on 1000 patients the sens, specificity (spec), positive (PPV) and negative (NPV) predictive value rates of US-FNAC from our prospective database with prolonged follow-up. Methods: Since 2001, >1000 stage I / II consecutive melanoma pts have undergone US-FNAC prior to SN. All patients underwent lymphoscintigraphy. Peripheral Perfusion (PP), Loss of Central Echoes (LCE), Balloon Shaped (BS) were the Berlin Morphology Criteria which were registered. FNAC was performed in case of presence of any of these factors. SN tumor burden was measured according to the Rotterdam Criteria. All patients underwent SN or LND in case of positive FNAC. Results: Mean/median Breslow thickness was 2.56 / 1.57 mm (0.2 – 44 mm).Mean/median follow-up was 39 / 32 months (0 – 115). Ulceration was present in 24 %. SN positivity rates were 20 % (202 / 1000). Sens was 51 %. Spec, PPV and NPV were 99%, 91% and 89%. Sensitivity was highest for T4 tumors (77%). PP, LCE, BS had sens of 69%, 24%, 25%. SN tumor burden > 1 mm in largest diameter according to the Rotterdam Criteria was identified by US-FNAC in 86%. Threshold for positive FNAC was 0.4 mm in maximum diameter. Conclusions: The new criterion of Periferal Perfusion is of key importance to achieve the high sensitivity of US-FNAC according to the Berlin Morphology Criteria (J Clin Oncol 2010; 28:847-852) to identify lymph node metastases. Especially for T4 patients and in patients with advanced SN tumor burden it can reduce significantly the need for surgical SN staging. The EORTC Melanoma Group will launch the prospective validation study, USE FNAC, in 2012.


1977 ◽  
Vol 128 (3) ◽  
pp. 336-340 ◽  
Author(s):  
James H. Nelson ◽  
John Boyce ◽  
Milagros Macasaet ◽  
Therese Lu ◽  
Joseph F. Bohorquez ◽  
...  

2016 ◽  
Vol 55 (06) ◽  
pp. 221-227
Author(s):  
Mona Mustafa ◽  
Peter Bartenstein ◽  
Torsten Kuwert ◽  
Daniela Schmidt ◽  
Harun Ilhan

SummarySPECT/CT detects radioiodine-positive cervical lymph node metastases (LNMs) of differentiated thyroid carcinoma (DTC) at the time of postsurgical radioablation (RA). Preliminary evidence indicates that the majority of LNMs are successfully treated by RA. The aim of this study was to confirm this evidence in a bicentric setting and to evaluate whether size is a predictor for successful elimination. Patients and methods: Since 01/2007 and 05/2008, respectively, SPECT/spiral-CT is performed routinely in all patients with DTC at RA in two University Clinics. The outcome of iodine-positive LNMs identified by SPECT/CT until 12/2012 was analyzed by follow-up diagnostic 131I scans and serum thyreoglobulin (Tg) values. LNM volume and short-axis diameter were evaluated as prognostic factors by a receiver-operating characteristic (ROC) analysis. Results: 79 patients with 97 iodine-positive LNMs were included. Surgery was carried out in 8 patients with 13 LNMs due to the presence of additional iodine-negative lesions. Of the remaining 84 LNMs, 74 (88%) were successfully treated as demonstrated by radioiodine scans at follow-up. 10 LNMs persisted. 67/70 LNMs smaller than 0.9 ml were treated successfully, whereas this was the case of only 6/14 exceeding this threshold. Using this cut-off level to predict treatment success, sensitivity, specificity, positive and negative predictive value were 92%, 73%, 96%, and 57%. Results for short-axis diameter (cut-off level < 1cm) were 90%, 69%, 94% and 56%. Conclusion: RA is effective in the treatment of the majority of 131I-positive LNMs identified in SPECT/CT images. In this study, 88% of iodine-positive LNM in DTC were successfully treated by radioiodine given at RA. Both LNM volume and diameter are reliable predictors of treatment success.


2000 ◽  
Vol 86 (4) ◽  
pp. 273-276
Author(s):  
Sante Basso Ricci ◽  
Arturo Chiti ◽  
Roberto Molinari ◽  
Giuseppe Borsa ◽  
Paolo Basso Ricci ◽  
...  

Aims and background Based on the fact that scintigraphy more readily reveals uptake of a radioisotope in a superficial position owing to incomplete surgical radicality, the authors examined by 67Ga scintigraphy a group of patients who had undergone dissection of lymph nodes of the neck from carcinoma with extranodal spread. They then checked the follow-up to ascertain the efficacy of 67Ga scintigraphy in relation to the eventual recurrences in the soft tissues of the neck. Methods A group of 136 patients were examined by 67Ga scintigraphy and followed for a minimum of 3 years after complementary radiotherapy. A group of 20 patients with no lymph node metastases was used as control to evaluate eventual false positives or false negatives. Results Recurrences in the soft tissues of the neck occurred in 35 (42.7%) of the 82 patients positive at 67Ga scintigraphy and in 6 (11.1%) of the 54 patients negative at the examination (P = 0.0001). All the patients in the control group were negative at 67Ga scintigraphy and without recurrences. Conclusions 67Ga scintigraphy can give reliable information on the risk of recurrences in the soft tissues of the neck. Since in spite of postoperative radiotherapy the percentage of local recurrences in cases with positive 67Ga scintigraphy was rather high (42.7%), the authors propose a scheme of radiotherapy based on administration of a higher dose per fraction on the scintigraphically positive area.


Breast Cancer ◽  
2003 ◽  
Vol 10 (4) ◽  
pp. 330-334 ◽  
Author(s):  
Kinya Matsuoka ◽  
Shozo Ohsumi ◽  
Shigemitsu Takashima ◽  
Toshiaki Saeki ◽  
Kenjiro Aogi ◽  
...  

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