scholarly journals Diffuse sclerosing variant of papillary thyroid carcinoma: outcomes of 33 cases

2021 ◽  
Author(s):  
Daniela Cavaco ◽  
Ana Filipa Martins ◽  
Rafael Cabrera ◽  
Helena Vilar ◽  
Valeriano Leite

Introduction: Diffuse sclerosing variant of PTC (DSV-PTC) is an uncommon subtype of thyroid cancer. Although an aggressive behavior is often recognized, prognostic significance is still under debate. Objectives: To describe the clinicopathological features and outcomes of a series of DSV-PTC patients. Methods: Retrospective data collection regarding 33 patients diagnosed with DSV-PTC followed at the Endocrine Department of the Portuguese Institute of Oncology in Lisbon between 1981 and 2020. Results: 26 patients (78.8%) were females with a mean age at presentation of 29.4±11.7 years-old. Mean time of follow-up was 19.5±10.6 years (range 0.5 to 39). Histologically, bilateral tumors were present in 72.7% patients (n=24), thyroid capsular invasion was documented in 57.6% (n=19), 45.4% (n=15) had extrathyroidal extension (ETE), and 42.4% (n=14) had lymphovascular invasion. Most patients were staged pT3 (42.4%, n=14) and pN1 (81.8%, n=27). Median lymph nodes resected were 16. None of the patients showed distant metastases at presentation. All patients were treated at least once with 131I. During follow-up, 4 patients (14.8%), with persistent neck disease, were diagnosed with distant metastases, all of them in the lung. Two patients (1.8%) presented recurrent disease in the neck after being considered with no evidence of disease. At the last appointment, 18 patients (54.5%) were in remission, 4 (12.1%) had biochemical evidence of disease, 6 had structural disease, and for 5 patients disease status was considered as undetermined. There was no disease related mortality. Discussion/Conclusion: Our study confirms that DSV-PTC is diagnosed more often in young patients and exhibits a local extensive disease at presentation. On the other hand, even in the presence of distant metastases, no patient died during follow-up.

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Abeer Abdulhadi Aljomaiah ◽  
Yosra Moria ◽  
Nora Aldaej ◽  
Meshael Alswailem ◽  
Ali Saeed Alzahrani

Abstract Diffuse sclerosing variant (DSV) is a rare subtype of papillary thyroid cancer (PTC). Whether it represents a higher grade subtype than conventional PTC is not quite clear. Furthermore, there are limited data on its long-term outcome and its molecular genetics. In this report, we studied all cases of DSV PTC seen at our center during the last 20 years. Out of more than 6000 patients (pts) with differentiated thyroid cancer, only 37 were DSV. We reviewed the clinical and histopathological features, management and outcome of these cases. In addition, molecular genetics is partially achieved; 17 out of these 37 cases have been genotyped for BRAFV600E, TERT promotor mutations, NRAS, HRAS and KRAS mutations. The molecular profiling of the other 20 cases is being done. A total of 37 pts were studied {(12 Males:25 Females, median age 21 years (8-89)}. One pt had lobectomy and the other 36 pts (97.3%) had a total thyroidectomy. Central only (4 pts) or central/lateral lymph node dissection (29 pts) were performed. The median tumor size was 4.5 cm (1.5-8.1). The tumor was multifocal in 27 cases (73%), with extrathyroidal invasion in 27 (73%) and lymphovascular invasion in 24 pts (64.8%). A background lymphocytic thyroiditis was present in 12 pts (32.4%). Lymph node metastases were present in 34 pts (92%) and distant metastases in 13 pts (35%). The sites of metastasis are lungs in 12 pts (32.4%) and lungs and bone in 1 pt. Twenty pts (54.1%) were in TNM8 stage 1, 10 pts (27%) in stage 2, 1 (2.7%) in stage 4a, 3 (8.1%) in stage 4b and 3 unstageable. The ATA risk classification for these pts was 4 pts (10.8%) in low, 12 (32.4%) in intermediate, 19 (51.4%) in high-risk groups and 2 could not be assessed. I-131 was administered to 33 pts (89.2%). The median administered activity was 136 mCi (46-218). Fifteen pts (40.5%) received additional therapies (3 surgeries, 7 RAI, 5 surgeries, and RAI). In 17 pts (46%) which were genotyped, only 3 tumors (8.1%) had BRAFV600E mutation, 1 (2.7%) had TERT promotor C228T mutation and none had RAS mutations. At the last follow up, 15 pts (40.5%) achieved an excellent response, 9 (24%) an indeterminate response, 6 (16.2%) with a structural disease, and 7 (19%) were lost for follow up. Conclusion: DSV PTC is a rare variant, occurs mostly in adolescent and young pts, characterized by aggressive histopathological features and high rates of lymph node and distant metastases but the commonly reported mutations in PTC are rare in DSV and mortality is absent.


2019 ◽  
Vol 181 (1) ◽  
pp. 1-11 ◽  
Author(s):  
Simona Censi ◽  
Susi Barollo ◽  
Elisabetta Grespan ◽  
Sara Watutantrige-Fernando ◽  
Jacopo Manso ◽  
...  

ObjectiveFollicular-derived thyroid cancers generally have a good prognosis, but in a minority of cases, they have an aggressive behavior and develop distant metastases, with an increase in the associated mortality. None of the prognostic markers currently available prior to surgery can identify such cases.MethodsTERTpromoter andBRAFgene mutations were examined in a series of 436 consecutive TIR-4 and TIR-5 nodes referred for surgery. Follow-up (median: 59 months, range: 7–293 months) was available for 384/423 patients with malignant nodes.ResultsTERTpromoter andBRAFmutations were detected in 20/436 (4.6%) and 257/434 thyroid nodules (59.2%), respectively. At the end of the follow-up, 318/384 patients (82.8%) had an excellent outcome, 48/384 (12.5%) had indeterminate response or biochemical persistence, 18/384 (4.7%) had a structural persistence or died from thyroid cancer.TERTpromoter mutations correlated with older age (P < 0.0001), larger tumor size (P = 0.0002), oxyntic and aggressive PTC variants (P = 0.01), higher tumor stages (P < 0.0001), distant metastases (<0.0001) and disease outcome (P < 0.0001). At multivariate analysis,TERTpromoter mutation was not an independent predictor of disease outcome.TERTpromoter mutation- (OR: 40.58; 95% CI: 3.06–539.04), and N1b lymph node metastases (OR: 40.16, 95% CI: 3.48–463.04) were independent predictors of distant metastases.BRAFmutation did not predict the outcome, and it correlated with a lower incidence of distant metastases (P = 0.0201).ConclusionsTERTpromoter mutation proved an independent predictor of distant metastases, giving clinicians the chance to identify many of the patients who warranted more aggressive initial treatment and closer follow-up.


2009 ◽  
Vol 62 (5-6) ◽  
pp. 217-223
Author(s):  
Atila Fenjvesi

Introduction Colorectal cancer (CRC) can arise through two distinct mutational pathways: microsatellite instability or chromosomal instability. High-frequency microsatellite instability (MSI) occurs in approximately 15 percent of sporadic cases of CRCs. Many studies have well established that MSI, the hallmark of defective DNA mismatch repair, is associated with prolonged survival of CRC patients compared with tumors that are microsatellite stable. CRCs in patients under 50 years of age are rare and represent about 5% of the total number of tumors. The aim of this study was to analyze the prognostic significance of MSI in CRC patients younger than 50 at the time of diagnosis. Material and methods 31 patients with CRC under 50 years of age were tested for the presence of MSI, and compared with 35 patients aged 50 or more at the time of diagnosis. CRC-specific survival five-year- follow-up period was analyzed in relation to MSI status. Results The frequency of MSI among the young patients was 35.48%, which was significantly higher than the rate of 11.43% noted in older patients with CRCs (p<0.042). This study revealed no difference in survival in patients with CRCs aged less than 50 compared with those over 50 years of age. The five-years survival of young CRCs patients with MSI 81.82%, was better than that of the patients with cancers with microsatellite stability, 60%, but there was no significant difference in statistics. Discussion and conclusion In our study there was no statistically detectable significant difference between tumor microsatellite status and survival in young patients, although we confirmed the previous observations that MSI is associated with better prognosis. We found that the pathological stage of CRC was an independent and powerful predictor of the clinical outcome.


2011 ◽  
Vol 26 (S2) ◽  
pp. 258-258
Author(s):  
E. Vieta ◽  
M.L. Figueira ◽  
F. Bellivier ◽  
D. Souery ◽  
E. Blasco-Colmenares ◽  
...  

IntroductionThe Wide AmbispectiVE study of the clinical management and burden of bipolar disorder (BD) (WAVE-bd; NCT01062607) is ongoing to address limitations of longitudinal BD studies to-date focused on single disease phases or treatment.Aim/ObjectiveTo describe baseline bipolar mood state and severity in a cohort of patients with BD.MethodsMultinational, multicentre, non-interventional, longitudinal study of patients diagnosed with BD-I or BD-II with ≥1 mood event in the preceding 12 months (retrospective data collection from index mood event to enrolment, followed by 9-14 months’ prospective follow-up). Site and patient selection provided a sample representative of bipolar populations. The study includes descriptive analyses of demographics, diagnosis and medical history.Results2880 patients (mean age 46.5 years [SD: 13.3]; 62.0% female) were recruited March to September 2010: 1989 (69.1%) BD-I and 891 (30.9%) BD-II. Time (years) from first symptoms to diagnosis was 2.9 [SD: 6.6] (BD-I) and 4.4 [SD: 8.0] (BD-II). Of the total population, 20.8% lived alone (13.9% BD-I, 6.9% BD-II), 36.7% were employed (24.0% BD-I, 12.7% BD-II) and 13.3% unemployed (9.5% BD-I, 3.8% BD-II). Disease status at inclusion (BD-I, BD-II, respectively [mild, moderate, severe]) included hypomania (7.9% [67.7%, 31.0%, 1.3%], 6.5% [70.7%, 29.3%, 0%]), mania (7.1% [26.1%, 47.2%, 26.8%], 0%), euthymia (58.6%, 60.3%), depression (19.7% [38.8%, 47.7%, 13.5%], 31.1% [41.2%, 46.9%, 11.9%]) and mixed (5.7% [30.1%, 46.9%, 23.0%], 0%).ConclusionsThis ongoing study provides detailed insight into a large BD population, showing the majority with euthymia and an important proportion with depression both in BD-I and BD-II patients.


2021 ◽  
Vol 10 (13) ◽  
pp. 2950
Author(s):  
Cécile Chung ◽  
Sébastien Bommart ◽  
Sylvain Marchand-Adam ◽  
Mathieu Lederlin ◽  
Ludovic Fournel ◽  
...  

Diffuse pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare pre-invasive disease whose pathophysiology remains unclear. We aimed to assess long-term evolution in imaging of DIPNECH, in order to propose follow-up recommendations. Patients with histologically confirmed DIPNECH from four centers, evaluated between 2001 and 2020, were enrolled if they had at least two available chest computed tomography (CT) exams performed at least 24 months apart. CT exams were analyzed for the presence and the evolution of DIPNECH-related CT findings. Twenty-seven patients, mostly of female gender (n = 25/27; 93%) were included. Longitudinal follow-up over a median 63-month duration (IQR: 31–80 months) demonstrated an increase in the size of lung nodules in 19 patients (19/27, 70%) and the occurrence of metastatic spread in three patients (3/27, 11%). The metastatic spread was limited to mediastinal lymph nodes in one patient, whereas the other two patients had both lymph node and distant metastases. The mean time interval between baseline CT scan and metastatic spread was 70 months (14, 74 and 123 months). Therefore, long-term annual imaging follow-up of DIPNECH might be appropriate to encompass the heterogeneous longitudinal behavior of this disease.


2018 ◽  
Vol 39 (5) ◽  
pp. 522-529 ◽  
Author(s):  
Florian Gaul ◽  
Luís E. P. Tírico ◽  
Julie C. McCauley ◽  
William D. Bugbee

Background: Osteochondral allograft (OCA) transplantation is a useful alternative for treatment of posttraumatic ankle arthritis in young patients but has a relatively high failure rate and further procedures are often required. The purpose of this study was to evaluate outcomes of patients who underwent revision OCA transplantation of the ankle after failed primary OCA transplantation. Methods: Twenty patients underwent revision OCA transplantation of the ankle between 1988 and 2015. Mean age was 44 years, 55% (11 of 20) were female. The mean time from primary to revision OCA was 3.0 ± 1.7 years. All patients had a minimum follow-up of 2 years. Outcomes included the American Academy of Orthopaedic Surgeons Foot and Ankle Module (AAOS-FAM) and questionnaires evaluating pain and satisfaction. Failure of the revision OCA was defined as a conversion to arthroplasty, arthrodesis, or amputation. Results: Ten of 20 ankles required further surgery, of which 30% (6 of 20) were considered OCA revision failures (4 arthrodeses, 1 arthroplasty, and 1 amputation). The mean time to failure was 6.7 (range, 0.6-13.1) years. Survivorship of the revision OCA was 84% at 5 years and 65% at 10 years. The 14 patients with grafts remaining in situ had an average follow-up of 10.3 years; mean AAOS-FAM Core Score was 70.5 (range, 42.3-99). Of the patients who answered the follow-up questions, 4 of 7 reported moderate to severe pain, and 5 of 12 were satisfied with the results of the procedure. Conclusion: Although the results of revision ankle OCA transplantation are not inferior to primary OCA transplantation, the high rates of persistent pain, further surgery, and graft failure suggest that the indications for OCA as a revision procedure should be carefully evaluated, with proper patient selection. Considering the treatment alternatives, revising a failed OCA transplantation can be a useful treatment option, especially for young and active patients who wish to avoid arthrodesis or arthroplasty. Level of Evidence: Level IV, case series.


Hand ◽  
2016 ◽  
Vol 12 (5) ◽  
pp. 493-500 ◽  
Author(s):  
Matthew T. Houdek ◽  
Brian E. Walczak ◽  
Benjamin K. Wilke ◽  
Sanjeev Kakar ◽  
Peter S. Rose ◽  
...  

Background: Soft tissue sarcomas (STS) of the hand are exceedingly rare. The aim of this study was to review our institution’s experience with STS of the hand to identify factors affecting outcomes and survivorship. Methods: We retrospectively reviewed the records of 46 hand STS treated with definitive surgery at our institution between 1992 and 2013. Pertinent demographics as well as information regarding the surgical procedure, and disease status at latest follow-up were reviewed. Mean age at diagnosis was 38 years with a mean follow-up of 5 years. Results: The most common tumor subtypes were epithelioid (n = 10) and synovial sarcoma (n = 8). Sixty-one percent were superficial in location. Thirty-three patients had had a nononcologic resection prior to definitive surgical treatment at our institution. Ultimately, negative margins were obtained in all cases. Local recurrence was observed in 5 patients and distant metastases in 14 patients. Tumor sizes ≥2 cm, American Joint Committee on Cancer (AJCC) grade, and depth of the tumor were found to adversely affect the outcome in terms of disease-free and overall survival. Reexcision of an inadvertently excised tumor at an outside institution did not adversely affect the outcome. The 10-year overall and disease-free survival was 72% and 63%. Conclusions: Local recurrence after a wide excision was observed infrequently; however, distant disease was relatively common. Tumors with a size ≥2 cm were associated with a worse disease-free and overall survival, highlighting the aggressive nature of these tumors.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Sarah Gammons ◽  
Mimi I Hu ◽  
Mark E Zafereo ◽  
Naifa L Busaidy ◽  
Nancy D Perrier ◽  
...  

Abstract INTRODUCTION: Medullary thyroid carcinoma (MTC) is rare in children and is hereditary (hMTC), caused by germline mutations in the RET proto-oncogene, in about 95% of cases. Very little is known about sporadic MTC (sMTC) when diagnosed in children/young adults. Our aim was to study the clinical presentation and long-term outcomes of a large cohort of sMTC seen at a tertiary cancer center and to compare sMTC with hMTC in young patients (pts). METHODS: Through a review of institutional databases, we identified pts diagnosed with MTC ≤ age 21 years (y.). Charts were retrospectively reviewed and data abstracted. The diagnosis of sMTC vs hMTC was determined based on germline RET testing and family history. RESULTS: We identified 146 pts (53% female), of whom 20 (14%) had sMTC and 126 (86%) had hMTC (80 MEN2a and 46 MEN2b), with a median follow-up of 10 y. (range: 0.08-58, IQR 4.8-18). In pts with sMTC, the stage at diagnosis was I-II in 3/15 (20%) and stage III-IV in 12/15 (80%). Somatic mutations were identified in 11/12 tumors tested (6 RET p.M918T, 1 RET p.G691S, 2 RET deletions p.L629_L633del and p.E632_L633del, 1 RET c.2698_2710delinsC, and 1 CCDC6-ALK fusion). In contrast to hMTC, pts with sMTC were diagnosed at an older age [mean 18.0 y. ± 3.4 (range: 10-21) vs 12.9 y. ± 5.4 (range: 1.5-21), p&lt;0.001], had higher calcitonin [median 889 (IQR 528-2634) vs 16 (IQR 3-117) x Upper Limit of Normal, p&lt;0.001] and CEA levels [median 186 (IQR 46-468) vs 11 (IQR 4-16) x Upper Limit of Normal, p&lt;0.001], larger tumors [median 2.5 cm (IQR 2-3.7) vs. 0.8 cm (IQR 0.4-1.9), p&lt;0.001], and were more likely to be stage IV at diagnosis [73% vs 28%, p&lt;0.001]. sMTC pts were less likely to have bilateral tumors [27% vs 81%, p&lt;0.001] and, at last follow-up, had more persistent structural disease [79% vs 46%, p=0.007] and distant metastases [74% vs 37%, p=0.005]. Death from MTC occurred in 15% of pts with sMTC vs 6% pts with hMTC; median overall survival was not significantly different [30.6 y. in sMTC vs 39.3 y. in hMTC]. CONCLUSION: In this largest reported series of MTC in children/young adults, and the only study to look at sMTC in this population, we identified sMTC in 14% of MTC cases, a higher prevalence than is traditionally recognized but one that is possibly confounded by a referral bias. Somatic mutations were identified in 92% of samples tested, allowing for targeted therapy in those with distant metastases if needed. Compared with hMTC, patients with sMTC presented at an older age with higher tumor markers, larger tumors, and more unilateral disease. At last follow-up, persistent structural disease and distant metastases were more common in sMTC. The differences in clinical presentation and long-term outcomes likely reflect a variable path to MTC diagnosis. In conclusion, sMTC in pts ≤ age 21 y. presents at an older age with more advanced disease, frequently has an actionable driver mutation, and may be more common than previously thought.


1991 ◽  
Vol 6 (4) ◽  
pp. 249-254 ◽  
Author(s):  
Staffan Törngren ◽  
Katarina Bremme ◽  
Ragnhild Hjertberg ◽  
Jesper Swedenborg

Sixty-three of 68 patients who underwent thrombectomy with a temporary arteriovenous fistula for ilio-femoral venous thrombosis were followed-up after a mean time of 66 months (range 15–130). Fifty-four were women with a mean age of 29 years (range 13–66). A primary successful operation was performed in 54 patients (86%); at 16 months 34 (54%) were judged to have a patent ilac vein. At long-term follow-up 23 patients had no symptoms, 17 had leg swelling, venous claudication and/or present or previous ulcer while 23 had leg swelling only. Fourteen (22%) had noticed a decreased capacity to perform their job and 21 (33%) had to compensate daily for the discomfort of the diseased leg. Recurrent thrombotic disease occurred in eight patients and did not seem to be associated with symptoms at follow-up. The results of the operated patients seem to be favourable compared to other reports of conservative treatment, especially for fertile women and with a reduced risk of future venous insufficiency. In young patients with a long life expectancy this is particularly important.


2019 ◽  
Vol 105 (3) ◽  
pp. e457-e465
Author(s):  
Evert F S van Velsen ◽  
Merel T Stegenga ◽  
Folkert J van Kemenade ◽  
Boen L R Kam ◽  
Tessa M van Ginhoven ◽  
...  

Abstract Context Current American Thyroid Association (ATA) Management Guidelines for the treatment of differentiated thyroid cancer (DTC) stratify patients to decide on additional radioiodine (RAI) therapy after surgery, and to predict recurring/persisting disease. However, studies evaluating the detection of distant metastases and how these guidelines perform in patients with distant metastases are scarce. Objective To evaluate the 2015 ATA Guidelines in DTC patients with respect to 1) the detection of distant metastases, and 2) the accuracy of its Risk Stratification System in patients with distant metastases. Patients and Main Outcome Measures We retrospectively included 83 DTC patients who were diagnosed with distant metastases around the time of initial therapy, and a control population of 472 patients (312 low-risk, 160 intermediate-risk) who did not have a routine indication for RAI therapy. We used the control group to assess the percentage of distant metastases that would have been missed if no RAI therapy was given. Results Two hundred forty-six patients had no routine indication for RAI therapy of which 4 (1.6%) had distant metastases. Furthermore, among the 83 patients with distant metastases, 14 patients (17%) had excellent response, while 55 (67%) had structural disease after a median follow-up of 62 months. None of the 14 patients that achieved an excellent response had a recurrence. Conclusions In patients without a routine indication for RAI therapy according to the 2015 ATA Guidelines, distant metastases would initially have been missed in 1.6% of the patients. Furthermore, in patients with distant metastases upon diagnosis, the 2015 ATA Guidelines are an excellent predictor of both persistent disease and recurrence.


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