TERT Promoter Mutation in an Aggressive Cribriform Morular Variant of Papillary Thyroid Carcinoma

Oh, Eok Soo; Lee, Sohee; Bae, Ja Seong; Kim, Yourha; Jeon, Sora; Jung, Chan Kwon

doi:10.1007/s12022-016-9454-3

Cited by 26 publications

(46 citation statements)

References 28 publications

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“…In the literature, only Kwon and coworkers in 2015 have reported three CMVPTCs with PIK3CA mutation (Kwon et al 2015). However, the mutation was not detected in a case tested by Oh and coworkers (Oh et al 2016).…”

Section: Mapk and Pi3k/act Pathways And Tertmentioning

confidence: 95%

“…K-RAS mutation has been reported once in an 18-year-old woman with FAP and CMV-PTC by Giannelli and coworkers (Giannelli et al 2014). On the other hand, the other 7 cases tested in the literature were negative for RAS mutations (Rossi et al 2012, Nakazawa et al 2013, Kwon et al 2015, Brehar et al 2016, Oh et al 2016). It appears that RAS mutation is uncommon in CMV-PTC.…”

Section: Mapk and Pi3k/act Pathways And Tertmentioning

confidence: 95%

“…showing TERT (telomerase reverse transcriptase) promoter mutation and having bone metastases (Oh et al 2016). Overall, CMV-PTCs with distant metastases were seen in patients of age older than mean age of the patients with CMV-PTC.…”

Section: :4mentioning

confidence: 96%

“…It is associated with tumour size, advanced stage, extrathyroidal invasion, lymph node metastases, distant metastases, BRAF mutation positivity, cancer recurrence and poor prognosis of patients with papillary thyroid carcinoma , Melo et al 2014). Oh and coworkers in 2016 have reported the mutation in a 45-year-old woman with CMV-PTC (Oh et al 2016). The case also had aggressive clinical course with lymph nodes and bone metastases.…”

Section: Mapk and Pi3k/act Pathways And Tertmentioning

confidence: 98%

“…Multinational studies have demonstrated that BRAF mutation in papillary thyroid carcinoma is associated with increased mortality and cancer recurrent rate (Xing et al 2013(Xing et al , 2015. In the literature, BRAF mutation was tested in 18 cases of CMV-PTC (Rossi et al 2012, Nakazawa et al 2013, Giannelli et al 2014, Kwon et al 2015, Brehar et al 2016, Oh et al 2016, and the results showed that these cancers were negative for BRAF mutation. The absence of BRAF mutation in CMV-PTC may explain the relative indolent nature of this type of papillary thyroid carcinoma.…”

Section: Mapk and Pi3k/act Pathways And Tertmentioning

confidence: 99%

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Cribriform-morular variant of papillary thyroid carcinoma: a distinctive type of thyroid cancer

Lam¹,

Saremi²

2017

Endocrine-Related Cancer

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The aim of this systematic review is to study the features of cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) by analysing the 129 documented cases in the English literature. The disease occurred almost exclusively in women. The median age of presentation for CMV-PTC was 24 years. Slightly over half of the patients with CMV-PTC had familial adenomatous polyposis (FAP). CMV-PTC presented before the colonic manifestations in approximately half of the patients with FAP. Patients with FAP often have multifocal tumours in the thyroid. Microscopic examination of CMV-PTC revealed predominately cribriform and morular pattern of cancer cells with characteristic nuclear features of papillary thyroid carcinoma. Psammoma body is rare. On immunohistochemical studies, β-catenin is diffusely positive in CMV-PTC. The morular cells in CMV-PTC are strongly positive for CD10, bcl-2 and E-cadherin. Pre-operative diagnosis of CMV-PTC by fine-needle aspiration biopsy could be aided by cribriform architecture, epithelial morules and β-catenin immunostaining. Mutations of APC gene are found in the patients with CMV-PTC associated with FAP. In addition, mutations in CTNNB1, RET/PTC rearrangement and PI3K3CA mutations have been reported. BRAF mutation is negative in all CMV-PTC tested. Compared to conventional papillary thyroid carcinoma, CMV-PTC had a lower frequency of lymph node metastases at presentation (12%) and distant metastases (3%) as well as lower recurrence rates (8.5%) and patients' mortality rates (2%). To conclude, patients with CMV-PTC have distinctive clinical, pathological and molecular profiles when compared to conventional papillary thyroid carcinoma.

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Section: Mapk and Pi3k/act Pathways And Tertmentioning

confidence: 95%

Section: Mapk and Pi3k/act Pathways And Tertmentioning

confidence: 95%

Section: :4mentioning

confidence: 96%

Section: Mapk and Pi3k/act Pathways And Tertmentioning

confidence: 98%

Section: Mapk and Pi3k/act Pathways And Tertmentioning

confidence: 99%

See 3 more Smart Citations

Cribriform-morular variant of papillary thyroid carcinoma: a distinctive type of thyroid cancer

Lam¹,

Saremi²

2017

Endocrine-Related Cancer

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Update on the cytologic features of papillary thyroid carcinoma variants

Pusztaszeri

Auger

2017

Diagnostic Cytopathology

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Papillary thyroid cancer (PTC), which accounts for 85-90% of all thyroid cancers, is generally an indolent tumor with long term survival rates >95%. A reliable definitive diagnosis of PTC is usually straightforward in fine needle aspirates of conventional PTC whenever the characteristic papillary and/or flat honeycomb sheet-like architecture and the typical nuclear features of chromatin pallor, nuclear enlargement, crowding, grooves and pseudoinclusions are encountered. Conventional PTC, however, has diminished in relative frequency as compared to PTC variants, especially the noninvasive follicular variant of PTC, an indolent tumor which has recently been reclassified as "noninvasive follicular thyroid neoplasm with papillary-like nuclear features" (NIFTP). These PTC variants are characterized by various architecture, cell type and shape, and stromal features, some of which can be recognized cytologically. Awareness of the cytomorphological spectrum and of the characteristic cytological features of these PTC variants is important to avoid diagnostic pitfalls. In this article, we review the different variants of PTC, including their cytomorphologic features, differential diagnosis, and salient molecular features. Diagn. Cytopathol. 2017;45:714-730. © 2017 Wiley Periodicals, Inc.

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Pulmonary metastasis of cribriform‐morular variant of thyroid carcinoma mimicking primary adenocarcinoma of the lung: A potential pitfall

Laforga¹,

Pedro²,

Gasent³

2019

Diagnostic Cytopathology

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Cribriform-morular variant of papillary thyroid carcinoma (CMV-TC) shows a peculiar mixture of follicular, cribriform, papillary, trabecular, and solid patterns with squamoid morules. Ocassionally, lung metastasis may be interpreted incorrectly as primary lung adenocarcinoma. We illustrate a case of pulmonary meastasis of CMV-TC mimicking a primary adenocarcinoma, 7 years after diagnosis of CMV-TC. The lung metastases may be easily missed if the pathologist is unaware of the patient's prior history and a limited immunohistochemical panel (CK7 and TTF-1) is used. The histologic and immunohistochemical (β-catenin+, ER+, PR+, TTF-1 +, and CK7+) findings were diagnostic of CMV-TC and ensured adequate treatment. K E Y W O R D Scribriform-morular variant of papillary thyroid carcinoma, cytology, diagnosis, immunohistochemistry, lung metastasis

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TERT Promoter Mutation in an Aggressive Cribriform Morular Variant of Papillary Thyroid Carcinoma

Cited by 26 publications

References 28 publications

Cribriform-morular variant of papillary thyroid carcinoma: a distinctive type of thyroid cancer

Cribriform-morular variant of papillary thyroid carcinoma: a distinctive type of thyroid cancer

Update on the cytologic features of papillary thyroid carcinoma variants

Pulmonary metastasis of cribriform‐morular variant of thyroid carcinoma mimicking primary adenocarcinoma of the lung: A potential pitfall

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