Sabato 27 ottobre 2012 - Pacini Editore
Sabato 27 ottobre 2012 - Pacini Editore
Sabato 27 ottobre 2012 - Pacini Editore
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RElaziONi<br />
Thyroid aspiration cytology<br />
G. Fadda<br />
Chief of the Cytopathology Section, Division of Anatomic Pathology<br />
and Histology, Catholic University, Rome (Italy<br />
Nodular lesions represent a very common problem for the clinicians<br />
as well as a diagnostic challenge for the pathologists.<br />
Up to 5% of the general population has a palpable thyroid<br />
nodule though only approximately 5% of these clinically<br />
apparent thyroid nodules actually harbour malignancy. The<br />
real challenge facing general practitioners, endocrinologists,<br />
surgeons, and pathologists is to reach an accurate preoperative<br />
diagnosis of malignancy and to ensure that the patient receives<br />
a timely and appropriate treatment. FNA is the only test that<br />
can provide a definitive preoperative diagnosis of malignancy.<br />
The sensitivity and specificity of FNA are reported to be 68-<br />
98% and 56-100%, respectively. FNAB is also regarded as the<br />
most accurate method for the selection of patients with thyroid<br />
nodules for surgery or for the ‘wait and see’ management and<br />
it can be considered a very cost-effective diagnostic test. The<br />
use of liquid-based techniques (LBC) applied to FNA specimens<br />
for the cytological evaluation of thyroid nodules is still<br />
controversial. Although the transition to this methodology<br />
requires adaptation by technologists and cytopathologists who<br />
evaluate the samples, it appears to be a valuable investment.<br />
An innovative diagnostic approach includes the addition and<br />
the enforcement of molecular diagnostics on FNA material. As<br />
good quality nucleic acid can be extracted from thyroid cells<br />
processed by LBC the molecular diagnosis will be playing a<br />
role in the management of patients with suspected endocrine<br />
neoplasms. Considering that the most common malignancy of<br />
the thyroid gland is papillary carcinoma (PC), the evaluation<br />
of a thyroid nodule on FNA is, therefore, primarily a search<br />
for PC. More than half of PCs harbor one of several mutations<br />
involving both Ret/PTC and PAX8/PPAR_ rearrangements and<br />
the mutations of RAS and BRAF genes. The identification of<br />
one or many of these genetic alterations on FNA specimens<br />
from thyroid lesions may improve the diagnostic yield of this<br />
technique, especially in indeterminate cases.<br />
Although PC is typically an indolent disease, recurrence is<br />
common (15%-30% of patients), even in early-stage disease.<br />
In vitro studies in benign thyroid cell models have demonstrated<br />
a particularly important role for BRAF as a central<br />
regulator of thyroid-specific protein expression (i.e., differentiation)<br />
and proliferative capacity. At the molecular level,<br />
mutations resulting in a V600E substitution in BRAF and<br />
consequent constitutive activation occur in more than 50% of<br />
PCs in adults. This figure makes BRAF mutations the most<br />
common defined genetic abnormality in thyroid cancers. In<br />
several studies, the presence of a BRAF mutation has been<br />
associated with a more aggressive clinical course. Therefore<br />
it might be crucial to identify patients at higher risk of recurrence<br />
so that a more aggressive therapy and a closer monitoring<br />
can be realized. In this way, molecular investigation<br />
performed on FNA could also assume a prognostic role.<br />
<strong>Sabato</strong>, <strong>27</strong> <strong>ottobre</strong> <strong>2012</strong><br />
Sala Giotto – 11.30-12.30<br />
Citologia agoaspirativa in twitter: tutto in sei minuti e tre slide<br />
Moderatori: Luigi Di Bonito (Trieste), Cesare Gentili (Massa Carrara)<br />
247<br />
references<br />
Fadda G, Rossi ED. Liquid based cytology in fine needle aspiration biopsies<br />
of the thyroid gland. Acta Cytol 2011; 55:389-400.<br />
Fadda G, Rossi ED, Raffaelli M, et al. Fine-Needle aspiration biopsy of<br />
thyroid Lesions processed by thin-layer cytology: one-year institutional<br />
experience with histologic correlation. Thyroid 2006;16: 975-81.<br />
Musholt TJ, Fottner C, Weber MM, et al. Detection of papillary carcinoma<br />
by analysis of BRAF and RET/PTC1 mutations in fine needle aspiration<br />
biopsies of thyroid nodules. World J Surg 2010;34:2595-603.<br />
Soares P, Trovisco V, Rocha AS, et al. Braf mutations typical of papillary<br />
thyroid carcinoma are more frequently detected in undifferentiated<br />
than in insular and insular-like poorly differentiated carcinomas.<br />
Virchows Arch 2004;444:572-76.<br />
Eszlinger M, Paschke R. Molecular fine-needle aspiration biopsy diagnosis<br />
of thyroid nodules by tumor specific mutations and gene expression<br />
patterns. J. Mol Cell.Endocrin 2010;322:29-37.<br />
Elisei R, Ugolini C, Viola D, et al. BRAF mutation and outcome of patients<br />
with papillary thyroid carcinoma: a 15-year median follow-up<br />
study. J Clin.Endocrinol.Metab 2008;93:3943-50.<br />
Nikiforova MN, Nikiforov Y. Molecular diagnostics and predictors in<br />
thyroid cancer. Thyroid 2009;19:1351-61.<br />
Nikiforov YE, Steward DL, Robinson-Smith TM, et al. Molecular testing<br />
for mutations in improving the fine needle aspiration diagnosis of<br />
thyroid nodules. J Clin Endocrinol.Metab 2009;94:2092-98.<br />
Fine needle cytology / core needle biopsy in<br />
pancreatic tumors<br />
G. Zamboni<br />
Departement o Pathology, University of Verona, Ospedale Don Calabria,<br />
Negrar, Verona, Italy<br />
The extensive utilisation of imaging has increased the discovery<br />
of pancreatic masses. Unfortunately, most (80 to 90 percent)<br />
of the clinically detected masses in the pancreas are adenocarcinomas.<br />
With the exception of functioning endocrine<br />
tumors, characterised by a specific clinical picture, the other<br />
pancreatic tumors manifest with either non-specific symptoms,<br />
or symptoms similar to pancreatitis. Although a correct<br />
diagnosis is mandatory to plan the therapeutic approach and<br />
establish a prognosis, accurate preoperative diagnosis sometimes<br />
is very difficult to achieve.<br />
The ideal diagnostic test, as in other disease, should be the tissue<br />
diagnosis with a trucut biopsy, since the tissue can be also<br />
used for ancillary studies. Unfortunately, diagnostic pancreatic<br />
tissue biopsies are not always available. The less invasive<br />
methods, like the FNAB with US guidance or the EUS-guided<br />
biopsies have a better level of safety and are considered reliable<br />
in detecting the presence of malignant cells, although of<br />
lower sensitivity. Independently on the used sampling method<br />
the accuracy of pathologic evaluation is higher when a pathologist<br />
makes the procedures or cooperates to them.<br />
Whether a lesion should be punctured or not it depends on<br />
many different aspects, and most of them are basically clinical<br />
and radiological ones. In many centres, if a mass is resectable<br />
the surgeons perform a pancreatectomy. A morphological diagnosis<br />
has to be served to all patients, either on the primary<br />
or secondary lesions, before to plan chemotherapy.