Scientific letter
Cribriform-morular variant of papillary thyroid carcinoma as initial presentation of the familial adenomatous polyposis
Carcinoma papilar de tiroides variante cribiforme-morular como inicio de la poliposis adenomatosa familiar
Beatriz Febreroa,b,c,
, José Manuel Rodrígueza,b,c, Antonio Ríosa,b,c, Pascual Parrillaa,b,c
Corresponding author
a Unidad de Cirugía Endocrina, Servicio de Cirugía General, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain
b Centro de Investigación Biomédica en Red en el Área temática de Enfermedades Hepáticas y Digestivas (CIBERehd), Murcia, Spain
c Instituto Murciano de Investigación Biomédica (IMIB), Murcia, Spain
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Within PTC, there is a rare variant, the cribriform-morular variant, that accounts for 0.1–0.2% of all PTC cases<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1–3</span></a> and may be associated with familial adenomatous polyposis (FAP).<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1,3</span></a> FAP presents several extraintestinal manifestations, including thyroid carcinoma, with an incidence of approximately 3.3% in the national registry.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> Moreover, about one third of cribriform-morular variant PTC cases are associated with FAP.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">This paper presents the case of a female patient who visited a physician because of a thyroid nodule whose definitive histological result showed cribriform-morular PTC. Upon analysis, the mutation in the adenomatous polyposis coli (APC) gene, associated with FAP, was observed.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The patient is a 20-year-old female, with no personal or family history of interest, who had been diagnosed with hypothyroidism. A cervical ultrasound scan detected a solitary nodule measuring 25<span class="elsevierStyleHsp" style=""></span>mm<span class="elsevierStyleHsp" style=""></span>x15<span class="elsevierStyleHsp" style=""></span>mm in the heterogeneous left thyroid lobe. Fine-needle aspiration-puncture was performed, and the cytology results were category IV, according to the Bethesda classification (follicular proliferation). The patient underwent left hemithyroidectomy; the histology study of the surgical piece showed cribriform-morular variant PTC. Another procedure was done 2 months later to complete the thyroidectomy. She was then given 100<span class="elsevierStyleHsp" style=""></span>mCi of I131 and showed good progress after 6 months of follow-up. A genetic test was conducted, and the mutation of the APC gene was confirmed. The endoscopic study revealed several polyps in the stomach and colon.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The cribriform-morular variant of PTC was first reported in 1994 by Harach et al.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a>, associated with FAP. Five years later, Cameselle-Teijeiro et al.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> also described the sporadic form.</p><p id="par0025" class="elsevierStylePara elsevierViewall">This PTC variant is associated with FAP in up to 33% of cases.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> Furthermore, in these cases, about 30% of papillary carcinomas will be diagnosed between 4 to 12 years before developing polyposis.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> Therefore, in patients with cribriform-morular variant PTC, FAP screening is recommended.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> In patients with negative genetic test results for APC mutation, it is also necessary to perform an endoscopic study as other mutations might be related to this disease.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> Yeoh et al.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> describe a case of cribriform-morular variant of PTC in FAP in which the genetic test result for the APC mutation was negative, but the patient presented several gastric and colon polyps in the endoscopic study.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Young patients (<35 years old) with FAP have a 160 times higher risk for developing thyroid carcinoma than the general population<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a>, and the cribriform-morular variant is the most common histological subtype, which appears in 92% of PTC and FAP cases.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Given the frequency of thyroid disease in FAP, there are groups that recommend screening in these patients with cervical ultrasound scan.<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">8,9</span></a> Jarrar et al.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a> conducted a prospective study in the United States with 192 FAP patients who underwent cervical ultrasound scanning. The results showed that up to 38% of the patients had thyroid nodular disease and 2.6% had PTC, so screening with a cervical ultrasound scan on these patients would be justified.</p><p id="par0040" class="elsevierStylePara elsevierViewall">With this information, if there is a young female patient diagnosed with FAP or with a family history of this disease<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> who presents a thyroid nodule, the case should be considered as a possible PTC. In this case, there was no previous FAP diagnosis, but there was no preoperative cytological result for PTC either, so the surgical approach might have been similar. Upon histological confirmation, thyroidectomy must be completed, especially in these cases given the higher frequency of multicentricity in thyroid tumours associated with FAP.<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">7,10</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Prophylactic lymph node dissection is more controversial in these tumours when associated with because they are usually found in younger patients and tend to be smaller and less aggressive than sporadic form tumours.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">In the medical literature, there are very few series of patients with the cribriform-morular variant of PTC<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">7,10</span></a> and, in general terms, the disease is less aggressive than traditional PTC, especially the variant associated with FAP.</p><p id="par0055" class="elsevierStylePara elsevierViewall">In conclusion, the cribriform-morular variant of PTC is a rare histological PTC subtype that we ought to associate with FAP. 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| Year/Month | Html | Total | |
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| 2023 March | 2 | 2 | 4 |
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