Anaplastic thyroid carcinoma (ATC), also known as undifferentiated thyroid carcinoma, is a rare and highly invasive and fatal malignant tumor[1].The average age of onset is 65-70 years old, with more females than males [2]. The literature reports that the median survival rate of ATC patients is about 3-4 months, and most patients die of distant metastatic diseases. Typical clinical manifestations are rapid growth, invasive neck masses, and a few patients seek medical attention due to hoarseness, dyspnea, dysphagia, weight loss, or symptoms secondary to metastatic diseases [2][5]. Tumors are highly invasive, often characterized by extrathyroid growth, vascular lymphatic infiltration, and distant metastasis. Local invasive tumors most commonly involve the trachea, esophagus, and larynx; The distant metastatic sites are in order: lung, bone, and brain; A few patients may present with paraneoplastic syndrome. In pathology, the appearance of ATC cells varies greatly, with various histological subtypes, such as epithelioid, spindle shaped cells, sarcomatoid, parenchymatous cells, squamous cells, giant cells, and striated muscle cells.Research has found that common mutations found in undifferentiated anaplastic thyroid cancer include BRAF, P53 gene, and TERT promoter mutations [3][4][5][6]. BRAFV600E mutations are most commonly found in classic PTC and 40-70% of ATC, and gene mutations may occur in the early stages of carcinogenesis. At the same time, many BRAF mutated ATC contain well differentiated PTC components. Due to the highly unstable genome of ATC, it typically displays multiple deletions and proliferation of entire chromosomes, chromosome arms, and smaller interstitial chromosomal regions. In cytogenetics, these tumors have complex karyotypes with a variety of different quantitative and structural chromosomal abnormalities [6]. In terms of clinical treatment, radical thyroidectomy can improve the median overall survival rate of patients with locally metastatic diseases (IVA and a small proportion of IVB patients). The American Thyroid Association recommends that after thyroidectomy for ATC patients, adjuvant chemotherapy and radiotherapy can be used in combination[4]. Despite the continuous development and diversification of treatment methods for thyroid anaplastic carcinoma, the best treatment for thyroid anaplastic carcinoma has not yet been confirmed. Literature studies have shown that radical resection of anaplastic thyroid cancer combined with radiotherapy and chemotherapy can better control the recurrence of the disease and improve the survival chances of tumor patients. Regarding chemotherapy, anthracycline drugs (doxorubicin), platinum drugs (cisplatin), and statins (docetaxel and paclitaxel) have been shown to be effective in treating patients with undifferentiated thyroid tumors. Combination therapy includes the study of (taxanes) and targeted therapy based on complex genomes for anaplastic thyroid cancer. Targeted therapies such as dalafanil (an inhibitor of BRAF) and trimethoprim (an inhibitor of MEK), as well as immunotherapy, have potential application values in the clinical application of patients with thyroid anaplastic cancer[7]. To improve the management of patients with this invasive cancer, clinical trials combining new therapies are also needed in a larger number of cases.
This patient, an elderly woman, was hospitalized due to pharyngeal pain; Physical examination can touch a neck mass. Color ultrasound confirmed the presence of solid thyroid nodules, and CT further identified thyroid masses, as well as bilateral lung metastases, pleural effusion formation grade liver metastases, and so on. Based on the degree of primary tumor invasion, this thyroid tumor is considered to have local invasion to the throat. Its growth pattern includes expansion outside the thyroid gland, metastasis to ipsilateral cervical lymph nodes, and distant metastasis to the lungs, liver, and other lesions. Immunohistochemical examination of thyroid biopsy tissue showed a missense mutation in P53. Due to the patient's advanced age, family members are considering discharge and targeted treatment with sorafenib toluenate after consultation. In this course of disease, color ultrasound diagnosis of thyroid tumors has high diagnostic value and clinical significance; In terms of interventional ultrasound, the combination of ultrasound guided fine needle aspiration cytology (FNA) and coarse needle aspiration biopsy of the thyroid gland enables minimally invasive surgery, rapid and safe material extraction; The diagnosis was confirmed by pathological results. Although ultrasound guided FNA can play an important diagnostic role in the initial evaluation of ATC, parallel biopsies are also required to clarify the diagnosis and obtain sufficient pathological specimens and molecular testing materials.We conducted a telephone follow-up three months after the patient was discharged from hospital, and their family members reported that the patient died two weeks ago.We are saddened and disappointed by the progress of the disease and the results of treatment. Finally, we analyzed the cause of the patient's death. The most likely reason is that the patient's disease was discovered and diagnosed late, making the disease (undifferentiated thyroid cancer) fully invasive, resulting in different metastatic lesions in multiple organs of the body, and thus losing the best opportunity for disease diagnosis and treatment.For undifferentiated thyroid tumors, a definitive diagnosis should be made through minimally invasive biopsy as much as possible before surgical resection.Due to its high mortality and aggressiveness, as well as the impact of prognosis and treatment consequences, accurate preoperative diagnosis is crucial.