Metastatic Anaplastic Thyroid Carcinoma in Complete Remission: Morphological, Molecular, and Clinical Work-Up of a Rare Case

Anaplastic thyroid carcinoma (ATC) exhibits an exceedingly poor prognosis, and the current treatment options are, for most cases, palliative by nature. Few reports of long-time survivors exist, although in these patients, tumors often were limited to the thyroid and/or regional lymph nodes. We descr...

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Veröffentlicht in:Endocrine pathology 2020-03, Vol.31 (1), p.77-83
Hauptverfasser: Stenman, Adam, Hellgren, L. Samuel, Jatta, Kenbugul, Hysek, Martin, Zemmler, Maja, Altena, Renske, Nilsson, Inga-Lena, Bränström, Robert, Zedenius, Jan, Juhlin, C. Christofer
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container_title Endocrine pathology
container_volume 31
creator Stenman, Adam
Hellgren, L. Samuel
Jatta, Kenbugul
Hysek, Martin
Zemmler, Maja
Altena, Renske
Nilsson, Inga-Lena
Bränström, Robert
Zedenius, Jan
Juhlin, C. Christofer
description Anaplastic thyroid carcinoma (ATC) exhibits an exceedingly poor prognosis, and the current treatment options are, for most cases, palliative by nature. Few reports of long-time survivors exist, although in these patients, tumors often were limited to the thyroid and/or regional lymph nodes. We describe a 64-year-old male who developed a rapidly growing mass in the left thyroid lobe. A fine-needle aspiration biopsy (FNAB) was consistent with ATC, and the patient underwent preoperative combined chemo- and radiotherapy followed by a hemithyroidectomy. The ensuing histopathological investigation was consistent with ATC adjoined by an oxyphilic well-differentiated lesion, likely a Hürthle cell carcinoma. Tumor margins were negative, and no extrathyroidal extension was noted. Focused next-generation sequencing analysis of the primary tumor tissue identified a TP53 gene mutation but could not identify any potential druggable targets. Additional Sanger sequencing detected a C228T TERT promoter mutation. The tumor was found to be microsatellite stable and displayed PDL1 expression in 80% of tumor cells. Following a CT scan 1 month postoperatively, metastatic deposits were suspected in the lung as well as in the left adrenal gland, of which FNAB verified the latter. Remarkably, upon radiological follow-up, the disease had gone into apparent complete remission. The patient is alive and well with no signs of residual disease after 12 months of follow-up. We here summarize the clinical, histological, and molecular data of this highly interesting patient case and review the literature for possible common denominators with other patients with disseminated ATC.
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The ensuing histopathological investigation was consistent with ATC adjoined by an oxyphilic well-differentiated lesion, likely a Hürthle cell carcinoma. Tumor margins were negative, and no extrathyroidal extension was noted. Focused next-generation sequencing analysis of the primary tumor tissue identified a TP53 gene mutation but could not identify any potential druggable targets. Additional Sanger sequencing detected a C228T TERT promoter mutation. The tumor was found to be microsatellite stable and displayed PDL1 expression in 80% of tumor cells. Following a CT scan 1 month postoperatively, metastatic deposits were suspected in the lung as well as in the left adrenal gland, of which FNAB verified the latter. Remarkably, upon radiological follow-up, the disease had gone into apparent complete remission. The patient is alive and well with no signs of residual disease after 12 months of follow-up. 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subjects Adrenal glands
Biopsy
Cell differentiation
Computed tomography
Endocrinology
Lymph nodes
Medicin och hälsovetenskap
Medicine
Medicine & Public Health
Metastases
Metastasis
Mutation
Next-generation sequencing
Oncology
p53 Protein
Pathology
Patients
Point mutation
Radiation therapy
Remission
Remission (Medicine)
Sequence analysis
Thyroid cancer
Thyroid carcinoma
Tumor cells
Tumors
title Metastatic Anaplastic Thyroid Carcinoma in Complete Remission: Morphological, Molecular, and Clinical Work-Up of a Rare Case
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