scholarly journals A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature

2019 ◽  
Vol 19 (1) ◽  
pp. 15-21 ◽  
Author(s):  
M. D. Aydemirli ◽  
K. van der Tuin ◽  
F. J. Hes ◽  
A. M. W. van den Ouweland ◽  
T. van Wezel ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Somatic Mosaicism ◽  
Sporadic Case ◽  
Papillary Thyroid ◽  
Blood Leukocytes ◽  
Pathogenic Variants ◽  
History Of ◽  
Cribriform Morular Variant ◽  
Next Generation Sequencing Ngs

Abstract We report a case of a 22-year-old female patient who was diagnosed with a cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC). While at early ages this thyroid cancer variant is highly suggestive for familial adenomatous polyposis (FAP), there was no family history of FAP. In the tumor biallelic, inactivating APC variants were identified. The patient tested negative for germline variants based on analysis of genomic DNA from peripheral blood leukocytes. Somatic mosaicism was excluded by subsequent deep sequencing of leukocyte and normal thyroid DNA using next generation sequencing (NGS). This report presents a rare sporadic case of CMV-PTC, and to the best of our knowledge the first featuring two somatic APC mutations underlying the disease, with an overview of CMV-PTC cases with detected APC and CTNNB1 pathogenic variants from the literature.

scholarly journals Cribriform-morular variant of papillary thyroid carcinoma with poorly differentiated features: report of a case and review of the literature

2022 ◽  
Vol 5 (1) ◽  
Author(s):  
Kusum L. Sharma ◽  
Ravi B. Singh ◽  
Nisreen Fidda ◽  
Ricardo V. Lloyd
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Differentiated Thyroid Carcinoma ◽  
Disease Spread ◽  
Beta Catenin ◽  
Papillary Thyroid ◽  
Ki 67 ◽  
History Of ◽  
Poorly Differentiated ◽  
Cribriform Morular Variant

Abstract Introduction Cribrifrom-morular variant of papillary thyroid carcinoma (CMVPTC) is an uncommon thyroid neoplasm that occurs predominantly in women and is sometime associated with familial adenomatous polyposis (FAP). Some of these tumors may undergo dedifferentiation to poorly differentiated thyroid carcinoma (PDTC). We describe a rare case of this carcinoma in a women without a history of FAP. Case presentation A 49-year-old woman with a history of breast carcinoma presented with a thyroid mass. A CMVPTC was diagnosed after excision. There was no history of FAP. Histological examination showed classical features of CMVPTC in most areas, but about 20% of the carcinoma showed features of a poorly differentiated carcinoma with a solid pattern of growth, increase mitotic activity and a high Ki-67 proliferative index (25%). Immunohistochemical stains were positive for nuclear and cytoplasmic beta catenin staining. These special studies supported the diagnosis. Conclusion CMVPTC with dedifferentiation to PDTC is a rare carcinoma with only 4 previous documented cases in the literature. This aggressive variant of thyroid carcinoma is more common in females, as is CMVPTC, and is often associated with an aggressive biological course. The cases usually express nuclear beta catenin and estrogen, progesterone and androgen receptors have been reported in some cases. Some cases may have somatic alterations of the APC gene and TERT promoter mutations. These carcinomas may metastasize to lung, bones and lymph nodes. Because of its aggressive behavior, patient with this diagnosis should be treated aggressively to control disease spread and mortality from the carcinoma.

scholarly journals Should a family history of papillary thyroid carcinoma indicate more aggressive therapy in patients with this tumor?

2014 ◽  
Vol 58 (8) ◽  
pp. 812-816 ◽  
Author(s):  
Pedro Weslley Rosario ◽  
Maria Regina Calsolari
Keyword(s):  
Lymph Node ◽  
Family History ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Lymph Node Dissection ◽  
Poor Prognosis ◽  
Tumor Resection ◽  
Papillary Thyroid ◽  
Node Dissection ◽  
History Of

Objective To determine whether the currently recommended therapy for papillary thyroid carcinoma (PTC) that show no classical factors indicating a poor prognosis is also effective in cases with a family history of this tumor. Subjects and methods: Forty-two patients were studied; 10 were submitted to lobectomy and 32 to total thyroidectomy, including 23 without lymph node dissection and 9 with lymph node dissection. None of the patients received radioiodine or was maintained under TSH suppression. Results No case of recurrence was detected by imaging methods and there was no increase in thyroglobulin or antithyroglobulin antibodies during follow-up (24 to 72 months). Conclusion The treatment usually recommended for patients with PTC does not need to be modified in the presence of a family history of this tumor if no factors indicating a poor prognosis are present (tumor ≤2 cm, non-aggressive histology, no extensive extrathyroid invasion or important lymph node involvement, complete tumor resection, no evidence of persistent disease after surgery).

Cribriform-morular variant of papillary thyroid carcinoma: report of three cases and review of the literature

Pathology ◽  
2009 ◽  
Vol 41 (5) ◽  
pp. 509-512 ◽  
Author(s):  
Yingchun Dong ◽  
Xiaojun Zhou ◽  
Honglin Yin ◽  
Jiandong Wang ◽  
Hangbo Zhou ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Papillary Thyroid ◽  
Review Of The Literature ◽  
Cribriform Morular Variant

scholarly journals Papillary Thyroid Carcinoma With Cystic Changes in a Patient With Prior History of Toxic Nodule

2020 ◽  
Vol 8 ◽  
pp. 232470962094267
Author(s):  
Gliceida Maria Galarza Fortuna ◽  
Paola Rios ◽  
Ailyn Rivero ◽  
Gabriela Zuniga ◽  
Kathrin Dvir ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Nodule ◽  
Thyroid Nodules ◽  
Molecular Testing ◽  
Papillary Thyroid ◽  
Thyroid Lobectomy ◽  
Cystic Changes ◽  
History Of

Thyroid nodules are palpable on up to 7% of asymptomatic patients. Cancer is present in 8% to 16% of those patients with previously identified thyroid nodules. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer, accounting for approximately 85% of thyroid cancers. Although most appear as solid nodules on ultrasound imaging, a subset of 2.5% to 6% has cystic components. The presence of cystic changes within thyroid nodules decreases the accuracy of fine needle aspiration (FNA) in the diagnosis of thyroid cancer, given the difficulty of obtaining appropriate cellular content. This becomes a diagnostic and therapeutic challenge. We present a case of a 31-year-old female with a 1-month history of palpitations, fatigue, and night sweats, who underwent evaluation, and was diagnosed with subclinical hyperthyroidism. She presented 4 years later with compressive symptoms leading to repeat FNA, showing Bethesda III-atypia of undetermined significance and negative molecular testing. Thyroid lobectomy revealed PTC with cystic changes. This case is a reminder that patients with hyperfunctioning thyroid nodule should have closer follow-up. It poses the diagnostic dilemma of how much is good enough in the evaluation and management of a thyroid nodule. Early detection and action should be the standard of care.

scholarly journals Cribriform-Morular Variant of Papillary Thyroid Carcinoma

2009 ◽  
Vol 131 (1) ◽  
pp. 134-142 ◽  
Author(s):  
José Cameselle-Teijeiro ◽  
Lia P. Menasce ◽  
Beng K. Yap ◽  
Rovel J. Colaco ◽  
Patricia Castro ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Papillary Thyroid ◽  
Cribriform Morular Variant

Cribriform-morular variant of papillary thyroid carcinoma: an indication to screen for occult FAP

2014 ◽  
Vol 13 (4) ◽  
pp. 547-551 ◽  
Author(s):  
Rachel A. Levy ◽  
Vanessa W. Hui ◽  
Rupa Sood ◽  
Stephanie Fish ◽  
Arnold J. Markowitz ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Papillary Thyroid ◽  
Cribriform Morular Variant
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