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 tuberculosis with papillary thyroid carcinoma in a 19 year-old female
Ji-ilhan L. Banawol ; Ronaldo G. Soriano
Philippine Journal of Otolaryngology Head and Neck Surgery 2025;40(Supplement):33-35
OBJECTIVES
To discuss a case of papillary thyroid carcinoma with concomitant thyroid tuberculosisin terms of clinical presentation and treatment.
METHODSDesign:Case Report
Setting:Tertiary Government Training Hospital
Patient:One
RESULTSA 19-year-old Filipina consulted with a four-year history of a left thyroid nodule. She was clinically euthyroid with unremarkable systemic examination. Fine needle aspiration cytology (FNAC) was suspicious for malignancy and she underwent total thyroidectomy. Histopathology revealed papillary thyroid carcinoma of the left lobe, microcarcinoma of the isthmus and incidental note of tuberculosis (TB) of the right lobe. Management included oral anti-TB medications and surveillance.
CONCLUSIONA 19-year-old Filipina consulted with a four-year history of a left thyroid nodule. She was clinically euthyroid with unremarkable systemic examination. Fine needle aspiration cytology (FNAC) was suspicious for malignancy and she underwent total thyroidectomy. Histopathology revealed papillary thyroid carcinoma of the left lobe, microcarcinoma of the isthmus and incidental note of tuberculosis (TB) of the right lobe. Management included oral anti-TB medications and surveillance.
Human ; Female ; Young Adult: 19-24 Yrs Old ; Carcinoma ; Thyroid Cancer, Papillary ; Thyroid Neoplasms ; Thyroid Gland ; Thyroidectomy ; Thyroid Nodule ; Government ; Needles ; Hospitals ; Research Report
6.Triple primary malignancy (synchronous papillary and follicular thyroid carcinomas and diffuse B-Cell lymphoma of the submandibular Gland and Cervical Lymph Nodes) in a 70-year-old woman
Philippine Journal of Otolaryngology Head and Neck Surgery 2025;40(Supplement):36-40
OBJECTIVES
To report a case of triple primary malignant neoplasms in a 70-year-old woman diagnosed with follicular and papillary thyroid carcinoma and diffuse B-cell lymphoma of the right submandibular gland and cervical lymph nodes.
METHODSDesign:Case Report
Setting:Tertiary Government Training Hospital
Patient: One
RESULTSA 70- year-old woman presented with a four-year history of gradually enlarging anterior neck mass, associated with a right submandibular mass and neck nodes for one year. The gradual progression of her symptoms made the patient think that it was a benign condition. This led to a delay in medical consultation. The patient underwent total thyroidectomy with functional neck dissection of the ipsilateral right neck. Histopathology revealed simultaneous follicular and papillary thyroid carcinoma, and diffuse B-cell lymphoma of the cervical lymph nodes. The patient was referred to medical oncology and nuclear medicine for further management.
CONCLUSIONOur patient was incidentally diagnosed with follicular and papillary thyroid carcinoma and diffuse B cell lymphoma of the cervical lymph nodes after surgery. Such triple primary malignant neoplasms in a single individual are rare, and as in our case, may only be diagnosed in hindsight.
Human ; Female ; Aged: 65-79 Yrs Old ; Carcinoma ; B-lymphocytes ; Adenocarcinoma, Follicular ; Neoplasms ; Submandibular Gland ; Lymph Nodes ; Lymphoma, B-cell ; Thyroid Gland ; Thyroid Cancer, Papillary ; Thyroidectomy
7.Papillary thyroid carcinoma arising from a thyroglossal duct cyst in a 30-year-old Filipina: A case report
Philippine Journal of Surgical Specialties 2025;80(2):63-63
Thyroglossal duct cyst carcinoma is rare with majority being Papillary thyroid carcinoma. This is diagnosed after the final histopathology report following a Sistrunk procedure. Though with a good prognosis, surgical management has been controversial. Reported here is a case of a 30-year-old female who presented with an anterior neck mass. Pre-operative diagnosis was a thyroglossal duct cyst and patient underwent Sistrunk procedure with no untoward events. Final histopathology report of the excised mass revealed papillary thyroid carcinoma. This report draws attention to the rarity of papillary carcinoma in thyroglossal duct cyst and highlights the surgical options for such cases.
Human ; Female ; Adult: 25-44 Yrs Old ; Thyroid Cancer, Papillary ; Thyroid Neoplasms ; Thyroid Gland ; Thyroglossal Cyst ; Carcinoma, Papillary ; Cysts
8.Orbital metastasis as a presenting feature of papillary thyroid carcinoma: Case report and literature review.
Armida L. SULLER-PANSACOLA ; Bea Therese D. BASCO ; Edwin Michael Joy B. PACIA ; Christine Joyce MINAS-SANTICRUZ ; Rolando A. LOPEZ ; Francis Paulo D. DIZON ; Alessa BATTISTINI-CASTILLO
Acta Medica Philippina 2025;59(19):96-108
A 61-year-old woman presented with a 2-month history of non-painful left eye proptosis. Imaging studies showed a superotemporal mass in the left orbit with intracranial extension. Surgical excision of the orbitocranial mass was performed and histopathologic examination revealed metastatic papillary thyroid carcinoma. She subsequently underwent total thyroidectomy. Orbital metastasis from thyroid carcinoma is rare and can be the initial manifestation of occult disease in 63% of cases.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Thyroid Neoplasms ; Thyroid Carcinoma ; Thyroid Cancer ; Papillary Thyroid Carcinoma ; Thyroid Cancer, Papillary
9.High expression of apolipoprotein C1 promotes proliferation and inhibits apoptosis of papillary thyroid carcinoma cells by activating the JAK2/STAT3 signaling pathway.
Yu BIN ; Ziwen LI ; Suwei ZUO ; Sinuo SUN ; Min LI ; Jiayin SONG ; Xu LIN ; Gang XUE ; Jingfang WU
Journal of Southern Medical University 2025;45(2):359-370
OBJECTIVES:
To investigate the expression of apolipoprotein C1 (APOC1) in papillary thyroid carcinoma (PTC) and its effects on proliferation and apoptosis of PTC cells.
METHODS:
The expression level of APOC1 in PTC and its impact on prognosis were analyzed using GEPIA 2 and Kaplan-Meier databases. Immunohistochemistry (IHC) and Western blotting were used to detect the expression of APOC1 in PTC and adjacent tissues and in 3 PTC cell lines and normal thyroid Nthyori 3-1 cells. In TPC-1 and BCPAP cells, the effect of Lipofectamine 2000-mediated transfection with APOC1 siRNA or an APOC1-overexpressing plasmid on cell growth and colony formation ability were examined by observing the growth curves and using colony-forming assay. The changes in cell cycle and apoptosis of the transfected cells were analyzed with flow cytometry. RT-qPCR and Western blotting were used to detect the changes in expressions of P21, P27, CDK4, cyclin D1, Bcl-2, Bax, caspase-3 and caspase-9 and the key proteins in the JAK2/STAT3 signaling pathway.
RESULTS:
APOC1 expression was significantly higher in PTC tissues and the 3 PTC cell lines than in the adjacent tissues and Nthyori 3-1 cells, respectively. In TPC-1 and BCPAP cells, APOC1 knockdown obviously reduced cell proliferative activity, increased the percentage of G0/G1 phase cells, lowered the percentages of S and G2 phase cells, promoted cell apoptosis, and downregulated mRNA and protein expression levels of CDK4, cyclin D1 and Bcl-2 and the protein levels of p-JAK2 and p-STAT3. APOC1 overexpression in the cells produced the opposite effects on cell proliferation, apoptosis, cell cycle and the mRNA and protein expressions. The application of AG490, a JAK2 inhibitor, strongly attenuated APOC1 overexpression-induced activation of the JAK2/STAT3 signaling pathway in BCPAP cells.
CONCLUSIONS
APOC1 overexpression promotes proliferation and inhibits apoptosis of PTC cells possibly by activating the JAK2/STAT3 signaling pathway and accelerating cell cycle progression.
Humans
;
Apoptosis
;
Cell Proliferation
;
STAT3 Transcription Factor/metabolism*
;
Signal Transduction
;
Janus Kinase 2/metabolism*
;
Thyroid Neoplasms/pathology*
;
Thyroid Cancer, Papillary
;
Cell Line, Tumor
;
Carcinoma, Papillary
10.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*


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