Primary rhabdomyosarcoma of the thyroid in an adult with auricular thrombosis

Febrero, Beatríz; Oviedo, I.; Rı́os, Antonio; Rodrı́guez, José Manuel

doi:10.1016/j.anorl.2016.01.014

Cited by 6 publications

(3 citation statements)

References 9 publications

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“…Page 3/6 Primary thyroid RMS is extremely rare; the present report describes the fth case of primary thyroid rhabdomyosarcoma, the third in adults and the rst with extensive molecular analysis [4][5][6][7]. Table 1 summarises the clinicopathological and molecular features of all primary thyroid RMS reported cases, including the case reported herein.…”

Section: Discussionmentioning

confidence: 99%

Primary thyroid rhabdomyosarcoma in an adult: a challenging case with histomolecular diagnosis and literature review

Alsugair

Calcagno

Lifante

et al. 2023

Preprint

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We report a case of primary thyroid rhabdomyosarcoma in a 61-year-old woman. Histologically, the neoplasm was composed of sheets of pleomorphic or spindle-shaped cells with eosinophilic cytoplasm and few large and very pleomorphic cells admixed with the spindle cell proliferation, without any thyroid epithelial component. Immunohistochemically, the tumour cells were positive for muscular markers and negative for epithelial and thyroid differentiation markers (AE1-AE3, EMA, CK5/6, TTF1, PAX8, thyroglobulin). Molecular tests revealed the presence of NF1, PTEN and TERT pathogenic mutations. Major morphological differential diagnoses include anaplastic thyroid carcinoma with rhabdoid phenotype, leiomyosarcoma, as well as other rare sarcomas. In this study, we describe the fifth case in the literature of primary thyroid rhabdomyosarcoma and the third in adults with, for the first time, an extensive molecular analysis.

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Section: Discussionmentioning

confidence: 99%

Primary thyroid rhabdomyosarcoma in an adult: a challenging case with histomolecular diagnosis and literature review

Alsugair

Calcagno

Lifante

et al. 2023

Preprint

View full text Add to dashboard Cite

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“…The major differential diagnosis included anaplastic (undifferentiated) thyroid carcinoma, metastatic LMS (18,19), spindle epithelial tumor with thymus-like differentiation (SETTLE) (20), spindle cell variant of medullary thyroid carcinoma (21) or other primary and metastatic malignant mesenchymal tumor types, including rhabdomyosarcoma (22), synovial sarcoma (23), malignant peripheral nerve sheath tumor (MPNST) (24) or undifferentiated pleomorphic sarcoma (25). Thyroid LMS should be diagnosed only when there is a complete lack of all epithelial differentiation and there is definite evidence (histologic, imninophenotypic, or ultrastructural) of specific sarcomatous differentiation (1,6,17).…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological features of primary thyroid leiomyosarcoma without Epstein‑Barr virus infection: A case report

et al. 2018

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Primary thyroid leiomyosarcoma (LMS) is a rare tumor type with an unusual location, the diagnosis is based entirely on histological and immunohistochemical evaluations. In the present study, a rare case of a 74-year-old female patient who exhibited a right anterior neck mass for 12 months, which rapidly enlarged for the last 3 months. Ultrasound of the thyroid revealed a 55×42 mm hypoechoic mass with clear margins in the right lobe. Histological examination of the tumor demonstrated malignant spindle cells in interlacing fascicles and whorls. Additionally, nuclear pleomorphism, tumor giant cells, necrosis and abnormal mitotic figures were observed. The immunohistochemistry indicated that the tumor cells were strongly positive for smooth muscle actin, desmin, p53 and vimentin expression, but negative for cytokeratin, epithelial membrane antigen, thyroid transcription factor-1, paired box-8, 34βE12, cytokeratin 5/6, cluster of differentiation (CD)117, myoglobin, S100, p16. The final histopathological diagnosis was primary thyroid LMS.

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“…It may develop within the parotid glands [91], the thyroid [92], and the oral cavity [93]. RMS within the urogenital tract may occur, among others, in the bladder [94], prostate [95], urethra [96], uterus [97,98], vulva [99], or scrotum [100].…”

Section: Clinical Picturementioning

confidence: 99%

Diagnosis and treatment of rhabdomyosarcomas

et al. 2023

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Rhabdomyosarcoma (RMS) is a soft tissue sarcoma. The primary tumor is most commonly localized in the head and neck, the urogenital system, or the limbs. Classification by the World Health Organization has distinguished four histopathological RMS subtypes: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Differential diagnosis of RMS includes melanoma, malignant neoplasm of peripheral nerve sheaths, liposarcoma, and PE-Coma. Among typical cytogenetic changes in RMS are chromosomal translocations t(2;13)(q35;q14) and t(1;13) (p36;q14). They lead to the formation of fusion genes that have a prognostic value. In the course of RMS, changes may also be present in signaling pathways, including RAS-PI3K, Wnt/b-catenin, receptor tyrosine kinase pathways, and myogenesis regulation. In 30% of patients at the time of diagnosis of RMS, distant metastases are present, most commonly to lungs, lymph nodes, bones, and bone marrow. Treatment of patients with RMS requires a multidisciplinary approach, and steadily perfected diagnostic techniques contribute to the individualization of therapeutic strategies. Optimal treatment of localized RMS is based on surgery combined with radiotherapy and chemotherapy. If distant metastases are present, the basic therapeutic method is multidrug chemotherapy, most frequently based on vincristine, dactinomycin, ifosfamide/cyclophosphamide, and etoposide. Despite intensive treatment, the 5-year survival index for RMS is not greater than 50%. There are still no unequivocal guidelines concerning the treatment in patients with local or distant recurrences.

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Primary rhabdomyosarcoma of the thyroid in an adult with auricular thrombosis

Cited by 6 publications

References 9 publications

Primary thyroid rhabdomyosarcoma in an adult: a challenging case with histomolecular diagnosis and literature review

Primary thyroid rhabdomyosarcoma in an adult: a challenging case with histomolecular diagnosis and literature review

Clinicopathological features of primary thyroid leiomyosarcoma without Epstein‑Barr virus infection: A case report

Diagnosis and treatment of rhabdomyosarcomas

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