Synchronous and Metastatic Papillary and Follicular Thyroid Carcinomas with Unique Molecular Signatures

Cracolici, Vincent; Mujacic, Ibro; Kadri, Sabah; Alikhan, Mir; Niu, Nifang; Segal, Jeremy P.; Rosen, Lauren; Sarne, David; Morgan, Adam; Desouky, Samy

doi:10.1007/s12022-017-9491-6

Cited by 17 publications

(27 citation statements)

References 21 publications

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“…The observed Q61R NRAS mutation is a well-established driver of follicular thyroid tumors and occurs in subsets of follicular variant PTCs, thus proving that the lateral lymph node tissue was tumorous rather than an ectopically located inclusion of benign thyroid epithelia [ 18 ]. Our case mirrors previous publications regarding the molecular profile of synchronous PTC and FTC, describing somatic Q61R NRAS mutation in an FTC developing alongside a BRAF mutated PTC [ 8 ]. Although the somatic status of these driver mutations is acknowledged, we did not interrogate germline DNA for any type of susceptibility gene variant, which is a limitation to the report.…”

Section: Discussionsupporting

confidence: 89%

“…Consulting the literature, several case reports and case series describing synchronous manifestation of PTC and FTC have been found, whereas reports of synchronous lateral lymph node engagement are virtually absent [ 8 ]. Regional lymph nodes metastases are reported to occur in less than 10% of FTCs and Hürthle cell carcinomas [ 2 , 9 – 11 ].…”

Section: Discussionmentioning

confidence: 99%

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Synchronous lateral lymph node metastases from papillary and follicular thyroid carcinoma: case report and review of the literature

et al. 2022

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Background Follicular thyroid carcinomas (FTCs) rarely metastasize to regional lymph nodes, and descriptions of synchronous lateral lymph node metastases of FTC and papillary thyroid carcinoma (PTC) are lacking. Case Presentation We describe a 43-year-old female with a preoperative cytology indicating a right-sided PTC with lateral lymph node metastases. She underwent a total thyroidectomy and central and lateral lymph node dissection, and histopathology confirmed a multifocal tall cell variant PTC together with a 12 mm minimally invasive FTC in the ipsilateral lobe. While the central compartment demonstrated metastatic PTC, the lateral compartment contained PTC metastases alongside a 15 mm large follicular-patterned mass in a separate lymph node. As the cells lacked PTC associated nuclear changes, the possibility of a lateral lymph node metastasis of FTC was considered, with the possibility of ectopic thyroid tissue as a differential diagnosis. By utilizing next-generation sequencing, a Q61R NRAS mutation was pinpointed, thus proving the tissue as tumorous. The patient underwent radioiodine treatment and is currently monitored following a negative whole-body scan. Conclusions This is probably the first case report of a patient with co-existing lateral lymph node PTC and FTC metastases. Consulting previous publications, there is currently a gap of knowledge in terms of how patients with regional FTC metastases should be followed-up and treated, especially when co-occurring with spread high-risk PTC subtypes. Moreover, what guides a seemingly indolent FTC to spread via the lymphatic system remains to be defined from a molecular standpoint.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Synchronous lateral lymph node metastases from papillary and follicular thyroid carcinoma: case report and review of the literature

et al. 2022

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“…The simultaneous occurrence of different types of thyroid cancer in a single patient is very rare. Although there are noticeable reports about synchronous papillary cancer, the reports of simultaneous papillary and follicular cancer are actually rare [ 23 ]. This simultaneous thyroid tumor presentation has been described as coincidental in the literature as no common gene mutation for the pathogenesis of the different tumor types of the thyroid has been found.…”

Section: Discussionmentioning

confidence: 99%

A synchronous papillary and follicular thyroid carcinoma presenting as a large toxic nodule in a female adolescent

Vlaenderen

Logghe

Schiettecatte

et al. 2020

Int J Pediatr Endocrinol

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Case presentation We report for the first time a synchronous papillary and follicular thyroid carcinoma in a 12-year-old girl presenting with a large (5 cm diameter) left thyroid nodule, an increased left and right upper pole technetium tracer uptake at scintigraphy and hyperthyroidism. The uptake at the right lobe was explained by the crossing of the left nodule to the right site of the neck at Computed Tomography (CT) scanning. Background Although thyroid nodules are less common in children than in adults, there is more vigilance required in children because of the higher risk of malignancy. According to literature, about 5% of the thyroid nodules in adults are malignant versus 20–26% in children. The characteristics of 9 other pediatric cases with a differentiated thyroid carcinoma presenting with a toxic nodule, which have been reported during the last 20 years, are summarized. A nodular size of more than 3.5 cm and female predominance was a common finding. Conclusions The presence of hyperthyroidism in association with a hyperfunctioning thyroid nodule does not rule out thyroid cancer and warrants careful evaluation, even in the absence of cervical lymph node invasion.

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“…As described elsewhere, the isolated DNA was cut into 150–200 bp fragments using Covaris M220 Focused-ultrasonicator™ Instrument (Covaris; Woburn, MA, USA). Following the manufacturer’s direction ( 10 , 11 ), we constructed Fragmented DNA and ctDNA libraries with the KAPA HTP Library Preparation Kit (Illumina platforms; KAPA Biosystems; Wilmington, MA, USA). The DNA libraries were captured with a designed panel of 68 genes for brain tumors (GenetronHealth; Beijing, China), these containing major brain tumor-related genes.…”

Section: Methodsmentioning

confidence: 99%

Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence

Jing

Sheng

et al. 2021

Front. Oncol.

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The recurrence of glioma is a difficult problem in clinical treatment. The molecular markers of primary tumors after resection cannot fully represent the characteristics of recurrent tumors. Here, abundant tumor DNA was detected in tumor in situ fluid (TISF). We report that TISF-derived tumor DNA (TISF-DNA) can detect genomic changes in recurrent tumors and facilitate recurrence risk analysis, providing valuable information for diagnosis and prognosis. The tumor DNA in TISF is more representative and sensitive than that in cerebrospinal fluid. It reveals the mutational landscape of minimal residual disease after glioma surgery and the risk of early recurrence, contributing to the clinical management and clinical research of glioma patients.

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Synchronous and Metastatic Papillary and Follicular Thyroid Carcinomas with Unique Molecular Signatures

Cited by 17 publications

References 21 publications

Synchronous lateral lymph node metastases from papillary and follicular thyroid carcinoma: case report and review of the literature

Synchronous lateral lymph node metastases from papillary and follicular thyroid carcinoma: case report and review of the literature

A synchronous papillary and follicular thyroid carcinoma presenting as a large toxic nodule in a female adolescent

Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence

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