Investigation of genetic sex-specific molecular profile in well-differentiated thyroid cancer: Is there a difference between females and males?

Background

Although more common in females, thyroid cancer is deemed to be more aggressive in males. The reasons for sex disparities in thyroid cancer are not well understood. We hypothesised that differences in molecular mutations between females and males contribute to this phenomenon.

Methods

Retrospective multicentre multinational study of thyroid nodules that underwent preoperative molecular profiling between 2015 and 2022. The clinical characteristics and mutational profiles of tumours in female and male patients were compared. Collected data included demographics, cytology results, surgical pathology, and molecular alterations.

Results

A total of 738 patients were included of which 571 (77.4%) were females. The extrathyroidal extension was more common in malignancies in males (chi-squared, p = 0.028). The rate of point mutations and gene fusions were similar in both sex groups (p > 0.05 for all mutations). Patients with nodules with BRAF^V600E mutations were significantly younger than BRAF wild-type nodule patients (t-test, p = 0.0001). Conversely, patients with TERT promoter mutations were significantly older than patients with wild-type TERT (t-test, p < 0.0001). For patients harbouring both BRAF^V600E and TERT mutations, the difference in age at presentation was significantly different in females (t-test, p = 0.009) but not in males (t-test, p = 0.433). Among females, patients with BRAF^V600E and TERT mutations were significantly older than their wild-type or single-mutation counterpart (t-test, p = 0.003).

Conclusion

The absolute rate of molecular mutations was similar in females and males. We found that extrathyroidal extension was more common in males. Moreover, BRAF^V600E and TERT mutations occur at a younger age in males than in females. These two findings are factors that may explain the tendency of more aggressive disease in males.     

Evaluation of cytologically benign solitary thyroid nodules by ultrasonography: A retrospective analysis of 1877 cases

Objective

The purpose of this study is to evaluate the role of ultrasonography (US) in the management of thyroid nodules when the cytology is benign tumor on fine needle aspiration biopsy (FNAB).

Methods

Between 2006 and 2011, we investigated 13,972 patients who had solitary thyroid nodule with cytological findings of benign. Surgery was performed according to our criteria for surgical indication. Of these patients, 1877 (13%) patients who underwent surgery were enrolled in this study. We compared the results of clinical findings including US classification and final histopathological diagnosis.

Results

One hundred seven (6%) after surgery were diagnosed as malignancy pathologically. Large nodule or high serum thyroglobulin level were not associated with an increased risk of malignancy. Ultrasonographic evaluation as malignancy was directly linked to pathological diagnosis as thyroid carcinoma (p < 0.001).

Conclusion

US may help to play a role in deciding whether surgical treatment is necessary for cytologically benign thyroid nodules.     

Role of ultrasonography in patients with cytologically follicular thyroid tumor

Objective

The purpose of this study is to evaluate the role of ultrasonography (US) in the management of thyroid nodules when the cytology is indeterminate as follicular tumor on fine needle aspiration biopsy (FNAB).

Methods

In 2006, 6586 patients with thyroid nodules, which were detected on US underwent FNAB in our department. Of these patients, we extracted 438 patients (6.7%) whose nodules were cytologically diagnosed as indeterminate. Of them, 227 patients were diagnosed as follicular tumor were enrolled in this study. Surgery was performed according to our criteria for surgical indication. We compared the results of clinical findings including US classification and final histopathological diagnosis.

Results

One hundred thirty-seven of 227 underwent surgical treatment. Thirty-three (24%) were diagnosed as malignancy pathologically. Large nodule or high serum thyroglobulin level were not associated with an increased risk of malignancy. Ultrasonographic evaluation as malignancy was directly linked to pathological diagnosis as thyroid carcinoma (p < 0.0001).

Conclusion

US plays a crucial role in deciding whether surgical treatment is necessary for cytologically indeterminate thyroid nodules as follicular tumor.     

99mTc锝-甲氧基异丁基异睛亲肿瘤显像对甲状腺单发结节的鉴别诊断价值

目的 探讨99mTc锝-甲氧基异丁基异睛(99mTc-MIBI)亲肿瘤显像对甲状腺单发结节的诊断价值.方法 41 例甲状腺单发结节并甲状腺99mTc-高得酸盐(99mTcO4)显像示为\"冷\"或\"凉\"结节的患者,行99mTc-MIBI亲肿瘤显像.测定99mTc-MIBI亲肿瘤显像早期相(20 min)及延迟相(2 h)...     

原发性甲状腺B细胞淋巴瘤的临床分析

目的:探讨原发性甲状腺B细胞淋巴瘤的临床表现、诊断及治疗。方法:回顾性分析8例原发性甲状腺B细胞淋巴瘤患者的临床资料,采用多种手段综合诊断及多种方法综合治疗。结果:随访2～7年,失访3例,死亡1例,存活4例,2年生存率为85.1%,5年生存率为76.3%。结论:多种手段综合诊断及多种方法综合治疗原发性甲状腺B细胞淋巴瘤,可提高诊断率,减少误诊,提高疗效。     

以厌食症为首要症状的原发性甲状旁腺功能亢进症1例

1临床资料患者,女,47岁。因厌食、恶心、呕吐伴体重减轻3个月就诊于我院。患者于3个月前无明显诱因出现厌食,表现为食欲不振,进食后恶心、呕吐,逐步加重,且出现精神淡漠、抑郁、无欲等。到当地医院就诊,诊断为神经性厌食症,给予助消化、支持及抗抑郁治疗,效果不佳,体重减轻约20 kg。查体：神志淡漠,精神差,营养差,少言懒语,甲状腺右叶下极可触及一大小约1.2 cm×1.0 cm肿物,质中,无压痛,肿物随吞咽上下活动,颈部未触及明显肿大淋巴结,四肢无畸形及活动受限。超声检查：①甲状腺右叶多发结节,②肝、胆、胰、脾、双肾未见明显异常。胃镜检查示慢性萎缩性胃炎并胆汁反流;ECT：全身骨骼显像未见明显异常;血生化结果示血钙：4.19 mmol/L （2.10～2.80 mmol/L）;血磷0.92 mmol/L（0.80~1.45 mmol/L）;甲状旁腺素：494 pg/ml（10～69 pg/ml）;99mTc-MIBI核素扫描：右侧甲状旁腺呈放射性浓缩,考虑甲状旁腺功能亢进症（图1A）。初步诊断：原发性甲状旁腺功能亢进症（primary hyperparathyroidism,PHPT）。患者术前血钙水平多次检测均在3.5 mmol/L左右,给予输入生理盐水4000 ml/d,效果不佳,故术前行血液透析,血钙降至2.72 mmol/L。全麻下行甲状旁腺探查+术中PTH测定+术中冰冻,术中探查见右下甲状旁腺肿物,大小约1.2 cm×1.0 cm,质中,包膜完整,右上甲状旁腺无明显异常（图1B）,右侧甲状腺多个胶体小结节,保护好喉返神经后切除甲状腺右叶及下旁腺肿物。术中冰冻：考虑甲状旁腺腺瘤。术中切除肿瘤15 min后抽血检测甲状旁腺素：187 pg/ml;术后病理回报：①右下甲状旁腺：符合甲状旁腺腺瘤（图1C）;②甲状腺右叶肿物：结节性甲状腺腺肿。术后第2天,血钙：2.30 mmol/L,开始进食,未出现恶心、呕吐,术后5 d,患者食欲开始恢复,情绪恢复正常,血钙：1.90 mmol/L,出现口周、指端麻木等低钙血症表现,给予口服钙剂治疗2周。术后6个月复查血钙：2.23 mmol/L,甲状旁腺素：52 pg/ml,患者饮食恢复正常,体重较术前增加15 kg。