Papillary thyroid carcinoma with extensive squamous dedifferentiation metastatic to the lung: BRAF mutational analysis as a useful tool to rule out tumor to tumor metastasis

Acosta, Andrés; Pins, Michael

doi:10.1007/s00428-015-1875-8

Cited by 18 publications

(13 citation statements)

References 14 publications

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“…BRAF mutations are rare and almost all non‐V600E mutations are present in pulmonary SCC . A previous report showed that BRAF mutation analysis was helpful in the case of a PTC with extensive squamous dedifferentiation that had metastasized to the lung . In the present case, PAX‐8 expression and a BRAF V600E mutation were identified, supporting our diagnosis of a metastatic PTC that resembled pulmonary SCC.…”

Section: Discussionsupporting

confidence: 84%

A rare case of ectopic papillary thyroid carcinoma transformed into squamous cell carcinoma

Yasuoka¹,

Nakamura²,

Shimo³

et al. 2018

Pathology International

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A rare case of a metastatic ectopic papillary thyroid carcinoma (PTC) of the lung that transformed into a squamous cell carcinoma (SCC) that resembles pulmonary SCC is reported. A subcutaneous ectopic PTC in the left anterior neck area, together with a normal thyroid gland, were excised. The ectopic PTC showed thyroglobulin, TTF-1 and PAX-8 immunoreactivity and a BRAF V600E mutation. During the post-operative follow-up period, a rapidly growing 2 cm nodular lesion in the lower left lobe of the lung was detected. The lung tumor consisted of solid sheets and nests of squamous cells but without the nuclear features of PTC. Neither papillary nor follicular structures of cancer cells were identified. Carcinoma cells were positive for TTF-1, PAX-8, p40, CK14, and p63, while showing a high Ki-67 labeling index and a BRAF V600E mutation. These results support our interpretation of a PTC that originated from ectopic thyroid tissue in the left anterior neck and that developed a lung metastasis showing squamous cell differentiation.

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Section: Discussionsupporting

confidence: 84%

A rare case of ectopic papillary thyroid carcinoma transformed into squamous cell carcinoma

Yasuoka¹,

Nakamura²,

Shimo³

et al. 2018

Pathology International

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“…A previous study showed that the presence of identical mutation of BRAF gene in both primary thyroid tumor and metastasis site might help to exclude tumor to tumor metastasis. [ 23 ] Unfortunately, both TERT and BRAF mutational analysis did not perform in our case. Future studies should be done to clarify the molecular pathway involved in the de-differentiation process.…”

Section: Discussionmentioning

confidence: 93%

De-differentiation of papillary thyroid carcinoma into squamous cell carcinoma in an elderly patient

Thewjitcharoen¹,

Krittiyawong²,

Butadej³

et al. 2020

Medicine

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Rationale: The unpredictability of thyroid cancer can be striking, as the disease may rapidly progress to death in some individuals. Herein, we reported a rare case of aggressive papillary thyroid cell carcinoma (PTC) in an elderly patient de-differentiated into squamous cell carcinoma (SCC). Patient concerns: We describe a case of a 79-year-old Thai woman presented with hoarseness and neck mass for 2 months and she had been diagnosed with a 3-cm papillary thyroid carcinoma (PTC) in the right side of the thyroid gland. Later on PTC de-differentiated into SCC within 3 years after initial presentation. Diagnosis: De-differentiation from papillary thyroid carcinoma to squamous cell carcinoma. Interventions: The patient underwent a total thyroidectomy at the initial hospital and received high dose radioactive iodine (RAI) treatment at our hospital 1 month following the surgery and then was lost to follow-up. Two years later she came back with new development of right solid-cystic neck mass which was found to be recurrent PTC. A radical neck dissection was done and another high dose RAI treatment was given. However, she developed recurrent mass with tenderness at the site above previous solid cystic mass 6 months later. Re-exploration of the neck mass revealed an inflamed midline mass 2 cm with enlarged right lateral cervical lymph nodes. Outcomes: A histopathological examination of the midline neck mass showed poorly differentiated SCC with lymphatic invasion. The intermingling of two morphologically distinct tumors, a typical PTC and a poorly differentiated SCC, had been identified in 1 out of 14 excised cervical lymph nodes. The patient underwent external beam radiation without chemotherapy. She is still in stable condition at 18 months post-treatment. Lessons: This case clearly demonstrated that SCC transformed from a pre-existing PTC. The clinician should consider a possible transformation of papillary thyroid cancer into more aggressive histological types in elderly patients who present with rapidly progressive clinical behavior. However, some patients could have long-term survival if the tumor did not transform into anaplastic thyroid cancer.

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“…40 Dedifferentiation of papillary carcinoma into squamous cell carcinoma has been reported and lineage identity can be proved by evidence of identical BRAFV600E mutation shared by both the tumors. 41 …”

Section: Carcinomasmentioning

confidence: 99%

Tumor dedifferentiation: diagnostic and therapeutic implications

Jha

2017

J Pathol Nep

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Some of the neoplasm especially malignant tumors are notorious in masquerading their cell of origin because of additional mutations which drives them to differentiate into unusual phenotype. This is implicated to a phenomenon of tumor dedifferentiation which can mislead into inappropriate categorization and therapy. Dedifferentiation is well recognized in sarcomas such as liposarcoma, chondrosarcoma and MPNST. However, it can also develop in carcinomas, melanomas and lymphomas at initial diagnosis, following therapy or at recurrence. The phenomenon has been reported in both primary tumors as well as at metastatic foci. A correct and early pathological identification of this phenomenon might profoundly help in guiding appropriate therapy. Clinical and radiological findings, immunohistochemistry and genetic analysis are often required for correct lineage identification of these tumors.

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Papillary thyroid carcinoma with extensive squamous dedifferentiation metastatic to the lung: BRAF mutational analysis as a useful tool to rule out tumor to tumor metastasis

Cited by 18 publications

References 14 publications

A rare case of ectopic papillary thyroid carcinoma transformed into squamous cell carcinoma

A rare case of ectopic papillary thyroid carcinoma transformed into squamous cell carcinoma

De-differentiation of papillary thyroid carcinoma into squamous cell carcinoma in an elderly patient

Tumor dedifferentiation: diagnostic and therapeutic implications

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