scholarly journals Μελέτη της μεθυλίωσης ογκοκατασταλτικών γονιδίων σε δείγματα αναρρόφησης δια λεπτής βελόνης σε ασθενείς με καρκίνο του μαστού

2020 ◽  
Author(s):  
Ελευθέριος Βαβουλίδης

Σκοπός: Η μεθυλίωση DNA σε περιοχές γονιδιακών υποκινητών έχει παρατηρηθεί σε αρκετά είδη καρκίνων, συμπεριλαμβανομένου και του Καρκίνου του Μαστού. Ένα πρωτόκολλο Methylation Specific PCR (MSP) σχεδιάστηκε και εφαρμόστηκε σε κλινικά δείγματα Αναρρόφησης δια λεπτής βελόνης (Fine Needle Aspiration Biopsy, FNAB) μαστού, ενός βιολογικού υλικού που έχει ελάχιστα χρησιμοποιηθεί στην βιβλιογραφία, για να προσδιοριστούν τα επίπεδα μεθυλίωσης των υποκινητών των γονιδίων CND2, APC, HIN1 & CDH13 και να εκτιμηθεί το κατά πόσο αυτό το πολυγονιδιακό πάνελ μεθυλίωσης μπορεί να χρησιμοποιηθεί ως βιοδείκτης για την ανίχνευση του Καρκίνου του Μαστού σε ελληνικό πληθυσμό. Μέθοδοι: Οι 104 συμμετέχοντες υπεβλήθησαν σε FNAB το υλικό της οποίας εκτιμήθηκε κυτταρολογικά για κακοήθεια μαστού ή μη και χρησιμοποιήθηκε για την περαιτέρω επιγενετική ανάλυση. Έγινε απομόνωση του DNA από τα κλινικά δείγματα FNAB μαστού και στη συνέχεια ακολούθησε η μετατροπή του παρουσία όξινου θειώδους νατρίου (bisulfite conversion). Οι αντιδράσεις MSP έγιναν με εκκινητές (primers) ειδικούς είτε για την μεθυλιωμένη είτε για τη μη μεθυλιωμένη κατάσταση για καθένα από τα 4 υπό μελέτη γονίδια. Τα τελικά MSP-προϊόντα αναλύθηκαν σε 2% πήκτωμα αγαρόζης με ηλεκτροφόρηση. Αποτελέσματα: Υπερμεθυλίωση παρατηρήθηκε στο 74%, 69.2%, 59.6% και 63.4% των δειγμάτων για τα γονίδια CND2, HIN1, APC και CDH13 αντιστοίχως. Το γονίδιο CND2 ήταν το πιο συχνά μεθυλιωμένο στα περιστατικά με κυτταρολογική διάγνωση κακοήθειας (90%) και τα γονίδια APC και HIN1 στα περιστατικά διαγνωσμένα ως ύποπτα για κακοήθεια (88.2%). Σημαντική συσχέτιση παρατηρήθηκε μεταξύ της ιστολογικής διάγνωσης και των συχνοτήτων μεθυλίωσης όλων των γονιδίων μελέτης (p-values<0.001). Βρέθηκε ότι ο σχετικός κίνδυνος (Odds Ratio) για κακοήθεια μαστού ήταν 8.267 για το γονίδιο CND2, 5.235 για το γονίδιο APC, 7.852 για το γονίδιο HIN1 and 22.920 για το γονίδιο CDH13, υποδηλώνοντας την θετική συσχέτιση της μεθυλίωσης των 4 γονιδίων με την εμφάνιση κακοήθειας μαστού. Επίσης, υπολογίστηκαν οι διαγνωστικές παράμετροι για κάθε γονίδιο και τα αποτελέσματα δείχνουν ότι ο συνδυασμός των τεσσάρων γονιδίων σε ένα πολυγονιδιακό πάνελ μεθυλίωσης αυξάνει σημαντικά την Ειδικότητα (Specificity) και Θετική Προγνωστική Αξία (Positive Predictive Value) συγκριτικά με την μεθυλίωση οποιουδήποτε μεμονωμένου εκ των τεσσάρων γονιδίων. Συμπεράσματα: Η μελέτη αυτή δείχνει ότι η FNAB μαστού σε συνδυασμό με τα δεδομένα μεθυλίωσης από τα αναρροφημένα κυτταρολογικά υλικά μαστού εμφανίζουν πολλά υποσχόμενα αποτελέσματα όσον αφορά την χρήση τους ως βιοδείκτη για την πρώιμη ανίχνευση του κινδύνου για Καρκίνο του Μαστού σε γυναίκες με ύποπτες αλλοιώσεις μαστού.

2020 ◽  
Vol 26 (11) ◽  
pp. 1286-1290
Author(s):  
Edy Kornelius ◽  
Shih-Chang Lo ◽  
Chien-Ning Huang ◽  
Yi-Sun Yang

Objective: There are conflicting data on the risk of thyroid cancer in thyroid nodules 3 cm or larger, and few such studies on this issue have been conducted in Asia. This study aimed to examine the risk of thyroid cancer in patients with thyroid nodules 3 cm or larger. Methods: This was a 7-year retrospective study conducted in a tertiary referral hospital in Taiwan. All patients with a thyroid nodule measuring ≥3 cm who underwent thyroid operation with or without fine-needle aspiration biopsy (FNAB) were included. The prevalence rate of thyroid cancer, as well as the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and false-negative rate of FNAB for thyroid nodule ≥3 cm were also examined. Results: A total of 132 patients were included in this study. Thyroid cancer was detected in 19 of 132 (14.4%) thyroid nodules measuring ≥3 cm. The performance of FNAB for detecting cancer in nodules 3 cm or larger without considering other ultrasonography parameters was relatively poor with a sensitivity of 50%, but the specificity (100%), PPV (100 %), and NPV (93.4 %) were excellent. Conclusion: The risk of thyroid cancer for thyroid nodules ≥3 cm in this study was low. The PPV and NPV of FNAB were high for the detection of cancer in large nodules. The decision to perform thyroidectomy should not be solely based on nodule size and should include other factors, such as ultrasound characteristics and surgical risk. Abbreviations: ATA = American Thyroid Association; FNAB = fine-needle aspiration biopsy; mPTC = micropapillary thyroid carcinoma; NPV = negative predictive value; PPV = positive predictive value; PTC = papillary thyroid carcinoma


2016 ◽  
Vol 31 (2) ◽  
pp. 24-26
Author(s):  
Kathleen Joy B. Santiago ◽  
Rodante A. Roldan ◽  
Samantha S. Castañeda

Objective: To determine the sensitivity, specificity, positive predictive value, negative predictive value and overall accuracy of FNAB in detecting parotid malignancies in our institution. Methods: Design:           Retrospective Chart Review Setting:           Tertiary Government Hospital Participants: Postoperative records of seventy six (76) patients with tumors of the parotid gland preoperatively diagnosed by FNAB. Results: The sensitivity of FNAB was 46%. The specificity and positive predictive value were both 100% and negative predictive value was 90%. Overall accuracy in diagnosing malignant parotid tumor was 91%. Conclusion: FNAB in this institution is a poor predictor of malignancy, having a sensitivity rate of only 46%. While this may serve as a basis for not recommending pre-operative FNAB for patients with parotid tumors in the interim, other factors should also be considered, including concerns with the actual performance and interpretion of FNAB in our institution. Keywords: Parotid neoplasm, Cancer of the parotid, fine needle aspiration biopsy, sensitivity, specificity, accuracy


2009 ◽  
Vol 48 (03) ◽  
pp. 79-83 ◽  
Author(s):  
M. Hellmich ◽  
W. Lehmacher ◽  
W. Eschner ◽  
M. Schmidt ◽  
C. Kobe ◽  
...  

SummaryThe prevalence of thyroid nodules . 1 cm is high in a previously iodine-deficient area. Under the hypothesis, that all patients with such nodules undergo fine-needle aspiration biopsy (FNAB) and that sensitivity and specificity of cytology are calculated with 85%, the positive predictive value of pathologic cytologic finding will reach 1.5% only according to Bayes-theorem. This is clinically unacceptable, as resection will be the consequence in all cases with suspect cytology. Even implementation of a second, independent test (e. g. moleculargenetic testing of thyreocytes, sensitivity to detect mutation 50%, specificity 95%) and application of sequential Bayestheorem the positive predictive value of combined pathologic findings will increase to 13% only. Nevertheless, 58% out of all thyroid cancer remain undetected by such a sequential algorithm.As a consequence, pre-selection of thyroid nodules for FNAB is required to increase the pretest-probability to at least 5.10%. A combination of sonographic criteria and scintigraphy, even in patients with normal TSHlevels, is suited to selected thyroid nodules for FNAB.


2014 ◽  
Vol 48 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Francesco Maria Solivetti ◽  
Fulvia Elia ◽  
Maria Giulia Santaguida ◽  
Antonino Guerrisi ◽  
Paolo Visca ◽  
...  

Abstract Background. The primary aim of this study was to evaluate the diagnostic accuracy of ultrasound (US) in the study of superficial lymph nodes during the follow-up of patients surgically treated for skin tumours. The secondary objective was to compare positive cytological results with histological reports. Patients and methods. From 2004 to 2011, 480 patients (male/female: 285/195; median age 57 years; prevalent skin tumour: melanoma) underwent US-guided fine-needle aspiration biopsy (FNAB) of suspicious recurrent lymph nodes. An expert radiologist first performed US testing of the lymph nodes, expressing either a negative or positive outcome of the test. Subsequently, US-guided FNAB was performed. FNAB positive patients were subjected to lymphadenectomy; the patients who tested negative underwent the follow-up. Results. The size of lymph nodes was ≤ 2 cm in 90% of cases. Out of the 336 (70%) US “positive” patients, 231 (68.8%) were FNAB positives. Out of the 144 (30%) US “negatives”, 132 (91.7%) were FNAB negatives. The sensitivity and specificity of the US were 95% and 55.7%, respectively; the negative predictive value was 91.7% and the positive predictive value was 68.8%. Definitive histological results confirmed FNAB positivity in 97.5% of lymphadenectomies. Conclusions. US is a sensitive method in the evaluation of superficial lymph nodes during the follow-up of patients with skin tumours. High positive predictive value of cytology was confirmed.


2021 ◽  
pp. 1-7
Author(s):  
Cong-Gai Huang ◽  
Meng-Ze Li ◽  
Shao-Hua Wang ◽  
Xiao-Qin Tang ◽  
Johannes Haybaeck ◽  
...  

<b><i>Introduction:</i></b> We intend to determine the diagnostic power of fine needle aspiration biopsy (FNAB) for differentiation between malignant and benign lesions on axillary masses and draw the physicians’ attention to the benefits of FNAB cytology in the diagnosis of axillary masses. <b><i>Methods:</i></b> In this study, 1,328 patients with an axillary mass diagnosed by FNAB were retrospectively reviewed. These cases were registered at the affiliated hospital of Southwest Medical University (China), July 2014 to June 2017. Cytological results were verified either by histopathology following surgical resection or clinical follow-up. <b><i>Results:</i></b> Of the 1,328 patients affected by axillary masses, 987 (74.3%) cases were female, and 341 (25.7%) cases were male. The highest incidence of patients was in the age group of 41–50 years (375, 28.2%). There were 1,129 (85.0%) patients with benign lesions and 199 (15.0%) with malignant lesions. Of the 199 malignant lesions cases, 21 cases were lymphomas, 2 cases were accessory breast cancers, and 176 cases were lymph node metastatic tumors. Under lymph node metastases, the most frequent primary tumors were breast cancer (141, 80.1%), followed by lung cancer (21, 11.9%). According to the study, the characters of 1,328 cases showed statistically significant difference (χ<sup>2</sup> = 4.534, <i>p</i> = 0.033), and the incidence of females with axillary mass was significantly higher than that of males. There was a statistically significant difference in the distribution of benign and malignant cases in the patient age groups (χ<sup>2</sup> = 1.129, <i>p</i> = 0.000), and the incidence of patients of 41–50 years of age was significantly higher than that of other patients. The diagnostic accuracy of FNAB in axillary masses was analyzed with the results of 95.98% of sensitivity, 99.56% of specificity, 97.45% of positive predictive value, and 99.29% of negative predictive value. <b><i>Conclusion:</i></b> Our results confirm that FNAB is a valuable initial screening method regarding pathologic diagnosis of axillary mass, in particular with respect to malignancy in 41- to 50-year-old female patients.


Respiration ◽  
2021 ◽  
pp. 1-4
Author(s):  
Nikhil Meena ◽  
Thaddeus Bartter ◽  
Roshen Mathew ◽  
Abhishek Kumar ◽  
Winnie Elma Roy ◽  
...  

<b><i>Background:</i></b> Rapid on-site cytologic evaluation (ROSE) is not always available for fine needle aspiration (FNA) specimens. We have examined the relationships between the presence of “GOOP” (defined as gooey white material) on FNA aspirates, on-site adequacy (OSA), and diagnosis. <b><i>Methods:</i></b> Consecutive FNA samples obtained over the study interval were included. Samples were assessed macroscopically for the presence or absence of GOOP (GOOP+ or GOOP−). GOOP+ samples were further characterized as shiny (G+<sub>S</sub>) or cheesy (G+<sub>C</sub>). Gross descriptors were correlated with OSA and final diagnoses. <b><i>Results:</i></b> Of the 204 sites biopsied, 102 were malignant, 94 benign, and 8 nondiagnostic. The presence of GOOP was highly predictive for adequacy (positive predictive value 98%). While these correlations for GOOP positivity were significant, the absence of GOOP did not rule out adequacy or malignancy. The presence of GOOP was also significantly correlated with a malignant diagnosis. <b><i>Conclusions:</i></b> We have prospectively demonstrated that the presence of GOOP correlates strongly with adequacy. This may be of value for those for whom ROSE is not available and, when available, may help prioritize specimens for on-site review.


2005 ◽  
Vol 123 (6) ◽  
pp. 271-276 ◽  
Author(s):  
Ruffo Freitas Júnior ◽  
Marise Amaral Rebouças Moreira ◽  
Gustavo Antônio de Souza ◽  
Ellen Hardy ◽  
Regis Resende Paulinelli

CONTEXT AND OBJECTIVE: Fine-needle aspiration biopsy has been accepted worldwide for breast lesions. However, some questions remain, including the appropriateness of the puncture method. The objective of this work was to compare aspirates obtained by the auto-vacuum device and by the syringe pistol holder. DESIGN AND SETTING: Randomized trial for validation of diagnostic method, at Hospital das Clínicas da Universidade Federal de Goiás and Hospital Araújo Jorge, Goiânia. METHODS: 351 patients presenting breast lumps underwent fine-needle aspiration biopsy, either with the auto-vacuum device or the syringe pistol holder. A single cytopathologist analyzed all of the cytology slides. The rates of insufficient material, cellularity, cell distortion and background hemorrhage were evaluated. RESULTS: The percentages of insufficient material were 16% and 22% (p = 0.18), for the auto-vacuum and pistol aspirates, respectively. Good cellularity was seen in 34% of auto-vacuum and 29% of pistol samples (p = 0.4). Cell distortion was seen in 31 and 26 cases, respectively (p = 0.7). Background hemorrhage occurred in 63 (35%) and 54 cases (31%) (p = 0.2), for auto-vacuum and pistol. The sensitivity was 88% and 86%; specificity 99% and 100%, positive predictive value 96% and 100%, negative predictive value 96% and 95% and total accuracy 76% and 75% for the auto-vacuum and pistol, respectively. CONCLUSION: The results obtained from the two fine-needle aspiration biopsy methods were equivalent. Therefore, the auto-vacuum device is a good option for obtaining aspirates for cytology.


2014 ◽  
Vol 30 (3) ◽  
pp. 147-152
Author(s):  
Mehmet Celal Kizilkaya ◽  
Fazilet Erozgen ◽  
Muzaffer Akinci ◽  
Rafet Kaplan ◽  
Sefa Tuzun ◽  
...  

Author(s):  
Yakup Yegin ◽  
Mustafa Çelik ◽  
Burak Olgun ◽  
Baver Masallah Simsek ◽  
Fatma Tulin Kayhan

<p class="abstract"><strong><span lang="EN-US">Background: </span></strong>The value of fine needle aspiration biopsy (FNAB) in the diagnosis of parotid masses remains unclear, considering current literature. The surgical procedure is not planned according to the FNAB results by the majority of the otorhinolaryngologists. Objectives of the study was to compare the results of FNAB and histopathological results in diagnosing malignancy and benign lesions of parotid gland and to determine the sensitivity, specificity and accuracy of FNAB.</p><p class="abstract"><strong><span lang="EN-US">Methods:</span></strong><span lang="EN-US"> It is a retrospective clinical chart review study. </span>In total, 61 patients (28 females and 33 males; average age, 46.31±15.79 years; age range: 12-82 years) with parotid gland masses who underwent preoperative FNAB were included in this study. All patients underwent FNAB under ultrasound guidance following clinical examination. Histopathological results of the surgical specimens and preoperative results of FNAB were compared and, the sensitivity, specify, positive predictive value (PPV), negative predictive value (NPV), the diagnostic accuracy of FNAB was calculated. A P-value &lt;0.05 was considered to reflect statistical significance.  </p><p class="abstract"><strong><span lang="EN-US">Results: </span></strong>The specificity of FNAB was 100% and its sensitivity was 57.2%. Accuracy for benign lesion was 91.4%, accuracy for a malignancy was 42.8% and overall diagnostic accuracy was 92.0%, respectively. PPV for benign lesion was 91.4% and the NPV was 100%, respectively. PPV for malignancy was 100% and the NPV was 91.4%, respectively.</p><p class="abstract"><strong><span lang="EN-US">Conclusions: </span></strong><span lang="EN-US">We suggest that FNAB is a valid, safe, easy-to-use method for identifying of parotid gland neoplasms. We recommend FNAB for all potential surgical patients. In our opinion, good collaboration between the Otorhinolaryngologist and the pathologist provides the best results.</span></p>


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