From Malignant Thyroid Teratoma to Thyroblastoma: Evolution of a Newly-recognized DICER1-associated Malignancy

Rooper, Lisa M.

doi:10.1097/pap.0000000000000364

Cited by 5 publications

(2 citation statements)

References 75 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Thyroblastomas typically present as a rapidly growing mass in the neck with invasion into extrathyroidal soft tissue 15 . The tumor is defined by the presence of primitive multilineage elements including primitive thyroid epithelial cells, spindled mesenchymal stromal cells with or without rhabdomyoblastic differentiation, and small cell blastemal components, usually neuroepithelial 1,22 . The diagnosis of thyroblastoma is established based upon the presence of these cellular components and the absence of conventional thyroid carcinoma or conventional germ cell features 1 .…”

Section: Discussionmentioning

confidence: 99%

Thyroblastoma: A DICER1‐associated embryonal neoplasm and fine needle aspiration diagnostic criteria

Jitpasutham

Faquin

Torous

et al. 2023

Diagnostic Cytopathology

View full text Add to dashboard Cite

Thyroblastoma is a rare, aggressive embryonal thyroid neoplasm associated with DICER1 mutation. It usually presents as a rapidly growing thyroid mass diffusely infiltrating the thyroid lobes and extending into perithyroidal tissue. Most thyroblastomas were initially diagnosed as malignant teratoma or carcinosarcoma. The cytologic features of thyroblastoma have not been well documented. Here, we present the cytological findings of a case of thyroblastoma in a 19‐year‐old female with a dominant solid left thyroid nodule. A fine needle aspiration biopsy of the mass revealed a highly cellular aspirate composed of crowded, atypical, high nuclear to cytoplasmic ratio epithelial cells, arranged in a variety of architectural patterns including rosette‐like microfollicular, solid, and morular. In addition, the background contains a minor population of atypical mesenchymal cells. The cytologic differential diagnosis of thyroblastoma includes primary thyroid neoplasms such as adenomatous nodule, follicular adenoma, follicular carcinoma, and poorly differentiated thyroid carcinoma as well as metastatic carcinoma.

show abstract

Section: Discussionmentioning

confidence: 99%

Thyroblastoma: A DICER1‐associated embryonal neoplasm and fine needle aspiration diagnostic criteria

Jitpasutham

Faquin

Torous

et al. 2023

Diagnostic Cytopathology

View full text Add to dashboard Cite

show abstract

“…As with teratomas originating in the gonads, thyroid teratomas can be divided into 3 types depending on the presence and proportion of the immature component: benign (mature), immature, or malignant. Malignant teratoma is now correctly called thyroblastoma [114] (Figure 8). The presence and proportion of immaturity influences the outcomes [115].…”

Section: Primary Malignant Thyroid Teratoma or Thyroblastomamentioning

confidence: 99%

Neck Surgery for Non-Well Differentiated Thyroid Malignancies: Variations in Strategy According to Histopathology

López

Ghuzlan

Zafereo

et al. 2023

Cancers

View full text Add to dashboard Cite

Lymph node metastases in non-well differentiated thyroid cancer (non-WDTC) are common, both in the central compartment (levels VI and VII) and in the lateral neck (Levels II to V). Nodal metastases negatively affect prognosis and should be treated to maximize locoregional control while minimizing morbidity. In non-WDTC, the rate of nodal involvement is variable and depends on the histology of the tumor. For medullary thyroid carcinomas, poorly differentiated thyroid carcinomas, and anaplastic thyroid carcinomas, the high frequency of lymph node metastases makes central compartment dissection generally necessary. In mucoepidermoid carcinomas, malignant peripheral nerve sheath tumors, sarcomas, and malignant thyroid teratomas or thyroblastomas, central compartment dissection is less often necessary, as clinical lymphnode involvement is less common. We aim to summarize the medical literature and the opinions of several experts from different parts of the world on the current philosophy for managing the neck in less common types of thyroid cancer.

show abstract

Atrophic changes in thyroid tumors are strong indicators of underlying DICER1 mutations: a bi-institutional genotype–phenotype correlation study

Condello,

Roberts,

Stenman

et al. 2024

Virchows Arch

View full text Add to dashboard Cite

Somatic and biallelic DICER1 mutations are reported in subsets of thyroid tumors, supporting the role of this gene in thyroid tumor development. As recent studies have brought attention to macrofollicular patterns, atrophic changes, and papillary structures as being associated with DICER1 mutations, we sought to explore these observations in a bi-institutional cohort. A total of 61 thyroid lesions (54 tumors and 7 cases of thyroid follicular nodular disease; TFND), including 26 DICER1 mutated and 35 DICER1 wildtype controls were subjected to histological re-investigation and clinical follow-up. DICER1-mutated lesions showed a statistically significant association with younger age at surgery (29.2 ± 12.5 versus 51.3 ± 18.8, p = 0.0001), a predominant macrofollicular growth pattern (20/26 mutated cases versus 18/35 wildtype; p = 0.01) and atrophic changes (20/26 mutated cases versus 2/35 wildtype; p = 0.0001). Similar results were obtained when excluding TFND cases. We also present clinical and histological triaging criteria for DICER1 sequencing of thyroid lesions, which led to the identification of DICER1 variants in 16 out of 26 cases (62%) when followed. Among these, 3 out of 12 cases with available data were found to carry a constitutional DICER1 mutation. This observation suggests that the majority of DICER1 mutations are somatic—however implies that sequencing of constitutional tissues could be clinically motivated. We conclude that DICER1 mutations are amassed in younger patients with macrofollicular-patterned tumors and, most strikingly, atrophic changes. Given the rate of constitutional involvement, our findings could be of clinical value, allowing the pathologist to triage cases for genetic testing based on histological findings.

show abstract

From Malignant Thyroid Teratoma to Thyroblastoma: Evolution of a Newly-recognized DICER1-associated Malignancy

Cited by 5 publications

References 75 publications

Thyroblastoma: A DICER1‐associated embryonal neoplasm and fine needle aspiration diagnostic criteria

Thyroblastoma: A DICER1‐associated embryonal neoplasm and fine needle aspiration diagnostic criteria

Neck Surgery for Non-Well Differentiated Thyroid Malignancies: Variations in Strategy According to Histopathology

Atrophic changes in thyroid tumors are strong indicators of underlying DICER1 mutations: a bi-institutional genotype–phenotype correlation study

Contact Info

Product

Resources

About