1.Hereditary versus sporadic medullary thyroid carcinoma: A single tertiary centre cohort study
Qin Zhi Lee ; Raja Nurazni Raja Azwan ; Chin Voon Tong ; Zanariah Hussein
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):9-
Introduction:
Medullary thyroid carcinoma (MTC) comprises sporadic and hereditary forms, the latter commonly associated with
multiple endocrine neoplasia type 2 (MEN2) which is identifiable through genetic screening of germline RET protooncogene. We compared the clinicopathological features and outcomes of hereditary and sporadic MTC in our single
centre.
Methodology:
We conducted a retrospective audit of patients with MTC from 2000 to 2026. Patients were classified as either hereditary
or sporadic based on genetic testing and/or family history of MTC/MEN2A syndrome. Variables analyzed included age
at diagnosis, mode of presentation, pre-operative calcitonin, tumor size, lymph node (LN) involvement, post-operative
biochemical cure, repeat surgery and presence of structural residual/recurrent disease.
Results:
A total of 57 patients were included (18 hereditary [31.6%], 39 presumed sporadic [68.4%]) with a median follow-up of
7.5 years (IQR 1.5–12.4). Hereditary MTC was diagnosed at a significantly younger age than sporadic MTC (33.0 vs. 44.7
years, p = 0.010) where 33% of the cases were diagnosed via screening detection whereas sporadic MTC more commonly
presented with symptomatic neck swelling (84.6% vs. 50.0%, p = 0.008). There were no significant differences in median
pre-operative calcitonin (513.5 vs. 1148.0 pg/mL, p = 0.101), tumor size (24.5 vs. 22.5 mm, p = 0.301), or LN involvement
(41.7% vs. 61.5%, p = 0.307) between hereditary and sporadic MTC. Long-term outcomes were also comparable, with
no differences in biochemical status, need for repeat surgery or residual/recurrent structural disease.
Conclusion
Hereditary MTC presents earlier and is more frequently detected due to screening, whereas sporadic MTC often presents
symptomatically. Long-term outcomes are not primarily determined by hereditary status alone. Early access to RET
mutation testing with a view to initiating prophylactic treatments rather than post detection surgery may improve
disease burden.
Thyroid Neoplasms
;
Cohort Studies
2.The Calcium Chase: Unmasking Parathyroid Carcinoma with Concurrent Papillary Thyroid Microcarcinoma
Fatin Liyana Binti Shahabudin ; Nur Nisrina Binti Yahya ; Nor Shaffinaz Yusoff Azmi Merican ; Shartiyah Ismail
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):72-
Introduction:
Parathyroid carcinoma is a rare endocrine malignancy found
in 1–5% of patients with primary hyperparathyroidism.
It commonly presents with severe hypercalcemia and markedly elevated parathyroid hormone (PTH) levels.
We report a challenging case of parathyroid carcinoma
presenting with refractory hypercalcemia with incidental
papillary thyroid microcarcinoma.
Case:
A 63-year-old female with hypertension, diabetes mellitus,
dyslipidemia, and ischemic heart disease had been followed
for primary hyperparathyroidism since 2014 (PTH5.5
pmol/L, calcium range 2.3–4.7 mmol/L). Initial neck
ultrasound was suggestive of parathyroid adenoma over
left side, but parathyroid scintigraphy failed to localize
a lesion. She refused surgical intervention initially until
April 2025, then she later agreed. Re-evaluation prior to
operation revealed PTH level 76 pmol/L, and repeated
parathyroid scintigraphy showed mild sestamibi avid
uptake on left thyroid nodule. While awaiting surgery, she
was admitted with a hypercalcemic crisis (serum calcium
3.7–5.38 mmol/L), complicated with acute kidney injury.
Repeated ultrasound neck revealed extrathyroidal lesion
adjacent to inferior pole of left thyroid (1.6 × 1.7 × 1.2 cm).
She required aggressive intravenous hydration, intravenous
pamidronate, calcitonin, and Denosumab to optimize her
calcium level peri-operatively. She underwent left neck
exploration with en-bloc left inferior parathyroidectomy,
left hemithyroidectomy, and central neck dissection in
November 2025. Histopathological examination confirmed
parathyroid carcinoma (pT3N1) with nodal metastasis (1/4
lymph nodes positive) and an incidental papillary thyroid
microcarcinoma measuring 1 mm (pT1a).
Conclusion
This case highlights the challenges of perioperative hypercalcemia management in parathyroid carcinoma. Effective
preoperative control often requires multiple treatment
modalities. Severe refractory hypercalcemia and high PTH
level should raise a high index of suspicion for malignancy.
Early complete resection is the cornerstone of treatment and
is associated with optimal outcomes.
Papillary Thyroid Microcarcinoma
;
Calcium
;
Parathyroid Neoplasms
3.Beyond MTC: Clinical Manifestations of MEN2A in Hereditary Medullary Thyroid Cancer Patients in a Tertiary Centre
Qin Zhi Lee ; Chin Voon Tong ; Raja Nurazni Raja Azwan ; Zanariah Hussein
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):80-
Introduction:
Medullary thyroid carcinoma (MTC) has the highest
familial predisposition syndrome of any hereditary cancer
syndrome. The most common subtype of hereditary MTC
is multiple endocrine neoplasia type 2A (MEN2A), which is
an autosomal dominant syndrome characterized by MTC,
pheochromocytoma, and primary hyperparathyroidism
(HPP). This study evaluates the genotypic distribution,
phenotypic manifestations, and clinical characteristics of
MEN2A within a retrospective MTC cohort.
Methodology:
A retrospective audit of MTC patients was conducted at
a tertiary centre. Patients with clinically or genetically
confirmed hereditary MTC were identified for further
analysis. Electronic medical records were reviewed for
demographic data, RET germline mutations, occurrence
of pheochromocytoma and HPP, laterality of disease, and
documented surgical interventions.
Results:
In all, 18 patients (31.6%) were classified as hereditary from
a cohort of 57 patients with a median age at diagnosis of 29.2
years. Among genetically confirmed cases with available
variant data (n = 11), mutations predominantly involved
exon 11 codon 634 (90.9%, n = 10), including p.Cys634Arg
(n = 4), p.Cys634Tyr, and p.Cys634Ser, with one codon 618
mutation.
Extrathyroidal manifestations were common. Pheochromocytoma occurred in 50.0% (n = 9), of which 77.8% (n = 7)
were bilateral. Most patients underwent adrenalectomy,
including bilateral procedures in those with bilateral
disease. HPP was identified in 44.4% (n = 8), managed with
selective parathyroidectomy. Both pheochromocytoma
and HPP were present in 22.2% (n = 4), while isolated MTC
occurred in 27.8% (n = 5).
Conclusion
Hereditary MTC in our cohort is predominantly associated
with high-risk codon 634 RET mutations and demonstrates
substantial penetrance of pheochromocytoma and HPP.
The high frequency of bilateral adrenal involvement
highlights the importance of systematic biochemical
surveillance and appropriately timed surgical management
in MEN2A. A nationwide registry would be timely.
Humans
;
Multiple Endocrine Neoplasia Type 2a
;
Thyroid Neoplasms
4.A Diagnostic Masquerade: Resistance to Thyroid Hormone Mimicking TSH-Secretory Pituitary Adenoma
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):119-
Introduction:
Discordant thyroid function tests (TFTs), characterized
by elevated free thyroxine 4 (FT4) with non-suppressed
thyroid-stimulating hormone (TSH), pose a significant
diagnostic challenge. Differentiating between Resistance
to Thyroid Hormone (RTH) and TSH-secreting pituitary
adenoma (TSH-oma) is essential, as management strategies
differ substantially.
Case:
A female with a history of hyperthyroidism diagnosed in
2011 was treated with antithyroid drugs for 1 year before
defaulting on follow-up. She was later found to have
discordant TFTs at a private centre, where a brain computed tomography scan was reportedly normal. She was referred
to our centre for optimization of thyroid function prior
to planned thyroidectomy for a solitary large right
thyroid nodule measuring 4.2 × 2.8 × 4.7 cm. Fine-needle
aspiration cytology demonstrated a benign follicular lesion
(Bethesda II).
Despite restarting antithyroid medication, she remained
clinically euthyroid with no overt thyrotoxic symptoms
apart from intermittent palpitations without documented
tachycardia. Antithyroid therapy was discontinued.
Serial TFTs across multiple assay platforms consistently
demonstrated elevated FT4 with inappropriately normal
TSH levels. Thyroid autoantibodies, including TSH receptor
and anti-thyroid peroxidase antibodies, were negative.
Pituitary magnetic resonance imaging showed no evidence
of adenoma, and serum α-subunit level was normal (0.3 ng/
mL), making TSH-oma unlikely. Dynamic testing was not
performed as thyrotropin-releasing hormone stimulation
was unavailable at our centre, while T3 suppression testing
was deemed inappropriate due to symptomatic palpitations. Family screening was not possible as the patient
was not in contact with her relatives. In the absence of
pituitary pathology and given her largely euthyroid clinical
status, RTH was considered the most likely diagnosis.
Conclusion
This case highlights the importance of considering RTH
in patients with persistent discordant TFTs, particularly
when clinical findings do not correlate with biochemical
abnormalities. Early recognition and appropriate pituitary
evaluation are essential to prevent misdiagnosis and avoid
unnecessary antithyroid therapy or thyroidectomy.
Pituitary Neoplasms
;
Thyroid Hormones
;
Thyrotropin
5.Thyroid nodule segmentation method integrating receiving weighted key-value architecture and spherical geometric features.
Journal of Biomedical Engineering 2025;42(3):567-574
To address the high computational complexity of the Transformer in the segmentation of ultrasound thyroid nodules and the loss of image details or omission of key spatial information caused by traditional image sampling techniques when dealing with high-resolution, complex texture or uneven density two-dimensional ultrasound images, this paper proposes a thyroid nodule segmentation method that integrates the receiving weighted key-value (RWKV) architecture and spherical geometry feature (SGF) sampling technology. This method effectively captures the details of adjacent regions through two-dimensional offset prediction and pixel-level sampling position adjustment, achieving precise segmentation. Additionally, this study introduces a patch attention module (PAM) to optimize the decoder feature map using a regional cross-attention mechanism, enabling it to focus more precisely on the high-resolution features of the encoder. Experiments on the thyroid nodule segmentation dataset (TN3K) and the digital database for thyroid images (DDTI) show that the proposed method achieves dice similarity coefficients (DSC) of 87.24% and 80.79% respectively, outperforming existing models while maintaining a lower computational complexity. This approach may provide an efficient solution for the precise segmentation of thyroid nodules.
Thyroid Nodule/diagnostic imaging*
;
Humans
;
Ultrasonography/methods*
;
Algorithms
;
Image Processing, Computer-Assisted/methods*
;
Thyroid Gland/diagnostic imaging*
6.Research progress on deep learning-based computer-aided diagnosis of thyroid nodules using ultrasound imaging.
Xinyuan ZHOU ; Min QIU ; Jiangfeng SHANG ; Guohui WEI
Journal of Biomedical Engineering 2025;42(5):1069-1075
Thyroid nodules are a common endocrine disorder, and their early detection and accurate diagnosis are crucial for the prevention of thyroid cancer. However, the highly heterogeneous morphology and boundaries of thyroid nodules pose significant challenges to their precise identification and classification. Traditional diagnostic approaches rely heavily on physicians' experience, which increases the risk of misdiagnosis and missed diagnoses. With the rapid advancement of computer-aided diagnosis (CAD) technologies, applying deep learning algorithms to the analysis of thyroid nodule ultrasound images has shown great potential. This paper reviews the latest research progress on deep learning-based CAD methods for thyroid nodules, with a focus on their applications in image preprocessing, segmentation and classification. The advantages and limitations of current techniques are analyzed, and potential future directions are discussed. This review aims to highlight the potential of deep learning in thyroid nodule diagnosis and to provide a foundation for selecting feasible pathways for future clinical applications.
Humans
;
Thyroid Nodule/diagnostic imaging*
;
Deep Learning
;
Ultrasonography/methods*
;
Diagnosis, Computer-Assisted/methods*
;
Algorithms
;
Thyroid Neoplasms/diagnostic imaging*
;
Image Processing, Computer-Assisted/methods*
7.Multidisciplinary expert consensus on thermal ablation for benign thyroid diseases, low-risk thyroid carcinoma, and metastatic cervical lymph nodes (2025 edition).
Chinese Journal of Internal Medicine 2025;64(7):614-624
Thermal ablation has proven an effective treatment modality for certain thyroid diseases. However, its indications remain the subject of significant debate both domestically and internationally. Over recent years, several international academic organizations have issued consensus statements, position papers, and guidelines concerning thyroid thermal ablation. In China, the Chinese College of Interventionalists (CCI), in collaboration with other relevant academic organizations, released the "Expert consensus on thermal ablation for thyroid benign nodes, microcarcinoma and metastatic cervical lymph nodes (2018 edition)". This consensus statement received widespread recognition within the field and contributed significantly to the standardization of thyroid thermal ablation therapy in China. With the continuous accumulation of evidence-based medical data, the need for a more stringent and standardized approach to thyroid thermal ablation has become evident. Accordingly, the Interventional Ultrasound Committee of the CCI, in collaboration with multiple academic organizations and experts, conducted extensive discussions and multiple revisions before finalizing the "Multidisciplinary expert consensus on thermal ablation for benign thyroid diseases, low-risk thyroid carcinoma, and metastatic cervical lymph nodes (2025 edition)". This updated consensus builds on the framework of the 2018 edition, refining indications and contraindications, emphasizing standardized treatment, and outlining future directions for research and clinical applications of thyroid thermal ablation technology.
Humans
;
Thyroid Neoplasms/surgery*
;
Consensus
;
Lymphatic Metastasis
;
Lymph Nodes/pathology*
;
Thyroid Diseases/surgery*
8.Lymphatic and Venous Contrast-Enhanced Ultrasound Imaging for Differential Diagnosis of Cervical Lymph Node Metastasis in Thyroid Cancer.
Li XU ; Wen-Bo WAN ; Tian GAO ; Tao-Hua GOU ; Yan ZHANG
Acta Academiae Medicinae Sinicae 2025;47(1):16-22
Objective To investigate the value of the novel lymphatic contrast-enhanced ultrasound(LCEUS)and conventional venous contrast-enhanced ultrasound(VCEUS)in the differential diagnosis of benign and malignant cervical lymph nodes in patients with thyroid cancer. Methods Patients with suspected thyroid cancer underwent conventional ultrasound,VCEUS,and LCEUS examinations of cervical lymph nodes before biopsy.The diagnostic abilities of conventional ultrasound,VCEUS,and LCEUS were compared with pathological results as the golden standard. Results Forty-four patients with 52 lymph nodes were included in the final data.Thirty-eight metastatic lymph nodes were confirmed by pathological results,and 14 were benign.The diagnostic sensitivity,specificity,and accuracy were 97.37%,71.43%,and 90.38% for LCEUS,92.11%,35.71%,and 76.92% for VCEUS,and 94.74%,21.43%,and 75.00% for conventional ultrasound,respectively.The area under the curve of LCEUS analyzed by the receiver operating characteristic curve was greater than that of VCEUS(P=0.020)and conventional ultrasound(P<0.001). Conclusion LCEUS could significantly improve the differential diagnosis of cervical lymph node metastasis in the patients with thyroid cancer,providing a basis for precise clinical treatment.
Humans
;
Thyroid Neoplasms/diagnostic imaging*
;
Lymphatic Metastasis/diagnostic imaging*
;
Diagnosis, Differential
;
Female
;
Male
;
Middle Aged
;
Ultrasonography
;
Adult
;
Lymph Nodes/pathology*
;
Contrast Media
;
Neck
;
Aged
;
Young Adult
;
Adolescent
;
Sensitivity and Specificity
9.Cellular and Histopathological Characteristics of Ultrasonically Underdiagnosed 3/4a Thyroid Nodules.
Wu WEI-QI ; Xu CUN-BAO ; Li YOU-JIA ; Su CHUN-YANG ; Feng-Shun ZHANG ; Yi-Feng CHEN
Acta Academiae Medicinae Sinicae 2025;47(1):23-28
Objective To analyze the cellular and histopathological characteristics of underdiagnosed thyroid nodules of Chinese thyroid imaging reporting and data system(C-TIRADS) categories 3 and 4a,thus improving the understanding of these lesions. Methods The data of ultrasound and fine needle aspiration cytology were collected from 683 nodules diagnosed based on pathological evidence in 549 patients undergoing thyroid surgery.The cellular and histopathological characteristics of C-TIRADS 3 and 4a nodules were analyzed. Results Two hundred and sixty-eight nodules were classified as C-TIRADS category 3,including 236 benign nodules,12 low-risk ones,and 20 (7.46%) malignant ones.Two hundred and twenty-one nodules were classified as C-TIRADS category 4a,including 133 benign nodules,7 low-risk ones,and 81 (36.65%) malignant ones.The malignancy rates differed between C-TIRADS 3 and 4a nodules (χ2=58.93,P<0.001),and both were higher than the recommended malignancy rate in the guidelines for malignancy risk stratification of thyroid nodules (C-TIRADS) (both P<0.001).According to the pathological evidence,the underdiagnosed C-TIRADS 3/4a nodules were mainly papillary thyroid carcinoma,especially in patients with Hashimoto thyroiditis.There was not a consistent one-to-one match between each ultrasound result and each cytological classification of low-risk thyroid nodules.Conclusions When the malignant features in preoprative ultrasound imaging are atypical or absent,papillary thyroid carcinoma (especially with Hashimoto thyroiditis),follicular carcinoma,and medullary carcinoma are likely to be underdiagnosed as C-TIRADS 3 or 4a nodules.Therefore,efforts should be made to fully understand the cellular and pathological characteristics of these lesions.
Humans
;
Thyroid Nodule/diagnostic imaging*
;
Female
;
Male
;
Middle Aged
;
Adult
;
Ultrasonography
;
Biopsy, Fine-Needle
;
Aged
;
Young Adult
;
Thyroid Neoplasms/diagnostic imaging*
;
Adolescent
10.Ultrasound Characteristics of Secondary Squamous Cell Carcinoma of the Thyroid.
Dong LIU ; Yan-Jia GOU ; Quan WEN ; Su-Ting ZONG
Acta Academiae Medicinae Sinicae 2025;47(3):390-395
Objective To analyze the ultrasonographic features of secondary squamous cell carcinoma of the thyroid(SSCC-T)and evaluate the diagnostic value of ultrasound.Methods A retrospective analysis was conducted on clinical and ultrasonographic data from 12 patients with pathologically confirmed SSCC-T treated at Beijing Friendship Hospital,Capital Medical University between January 2016 and January 2025.Evaluated parameters included lesion size,echogenicity,edge,vascularity,calcification,and cervical lymph node metastasis.Descriptive statistical analysis was performed to analyze the ultrasonographic features of SSCC-T,and Fisher's exact test was conducted to analyze the correlation between different ultrasound classifications and thyroid dysfunction.Results The 12 patients showed the following ultrasound classifications:nodular type(50.0%,6/12),diffuse type(33.3%,4/12),and mixed type(16.7%,2/12).All diffuse-type patients exhibited a characteristic cord-like hypoechoic pattern.Cervical lymph node metastasis was observed in all the patients,with 75.0%(9/12)showing lymph nodes >2 cm in maximum diameter.Thyroid dysfunction occurred in 66.7%(8/12)of patients,including 2 patients with dynamic shifts from hyperthyroidism to hypothyroidism.Diffuse and mixed types were associated with hypothyroidism(P=0.038).Conclusions SSCC-T demonstrates specific ultrasonographic features,particularly the cord-like hypoechoic pattern in the diffuse type.For patients with squamous cell carcinoma,regular ultrasound examinations of the thyroid and cervical lymph nodes combined with changes in thyroid function are conducive to the timely detection of thyroid metastasis of squamous cell carcinoma.
Humans
;
Retrospective Studies
;
Ultrasonography
;
Carcinoma, Squamous Cell/diagnostic imaging*
;
Thyroid Neoplasms/diagnostic imaging*
;
Lymphatic Metastasis
;
Male
;
Female
;
Middle Aged
;
Thyroid Gland/diagnostic imaging*
;
Adult


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