Medullary Thyroid Carcinoma Research Articles

7742 Clinical Outcomes of Thyroid Cancer Patients Enrolled in a Comprehensive Thyroid Cancer Survivorship Program

Abstract Disclosure: M.A. Ruiz Santillan: None. J.L. Rollins: None. S. Lee-Kim: None. M.I. Hu: None. S.I. Sherman: None. J. Varghese: None. N.L. Busaidy: None. M. Cabanillas: None. R. Dadu: None. P.C. Iyer: None. A.K. Ying: None. S.G. Waguespack: None. J.K. Devin: None. C. Jimenez: None. R. Vassilopoulou-Sellin: None. R.F. Gagel: None. M. Zafereo: None. P.H. Graham: None. N.D. Perrier: None. E. Grubbs: None. S.B. Fisher: None. M.A. Habra: None. Background Thyroid cancer, being the most common endocrine malignancy with excellent prognosis, is an ideal model for cancer survivorship. The Thyroid Cancer Survivorship clinic (TCSC) was established to provide oncologic, functional, behavioral follow-up, and age-appropriate cancer screening. Entry criteria into TCSC were developed using expert opinion as formalized consensus guidelines for thyroid cancer survivorship care do not exist. Patients may transition at 1, 3, or 5 years after initial diagnosis depending on original histology and stage, lack of definitive biochemical (thyroglobulin or Calcitonin/CEA), and/or structural evidence of disease. It is run by nurse practitioners with physician supervision. The impact of the transition criteria from acute care to survivorship has not been evaluated. To fill this knowledge gap, we analyzed data from TCSC to assess important clinical outcomes including return to active care, disease recurrence, and overall survival. Methods A single-institution, retrospective review was conducted to identify patients with differentiated (DTC) and medullary (MTC) thyroid cancer enrolled in our TCSC. We particularly assessed patients who were referred from TCSC back to active care because of suspected recurrence, which was defined as either biochemical and/or structural and based on abnormal biochemical markers and/or imaging. Results Between 2009-2023, 2887 patients were transitioned from active care to the TCSC out of whom 246 (8%) patients returned to active care for: the evaluation of endocrine disorders in 84 pts (2.9%), scheduling factors 74 pts (2.6%), and suspected recurrence in 88 pts (3%) (83 with DTC and 5 with MTC). Recurrence was suspected based on abnormal biochemical markers in 40/88, imaging in 34/88, or both in 14/88. Of the patients with suspected recurrence there were 66 females and 22 males with a median age at the time of initial diagnosis of 44 (range: 18-76) years. The median follow-up time from diagnosis to the last visit to our institution was 14 (range: 5-55) years and the median follow-up from transition to the TCSC to the last visit was 8 (range: 1-14) years. At the time of entering TCSC, 21/88 (24%) had biochemical indeterminate disease, while 38 (43%) had indeterminate imaging findings on neck ultrasound. DTC patients returned to active care after a median of 5 (range: 0.26-13) years and MTC patients returned after a median of 2 years (range: 0.81-11). At the last follow-up visit, 42/88 (48%) patients were alive with no evidence of disease, 41/88 (47%) were alive with residual disease and 5/88 (5%) died (3 of thyroid cancer, 1 of breast and 1 of genitourinary malignancy complications). Conclusions The retention rate is high in TCSC, with a small percentage transitioning back to active care. Only 3% of patients transitioned back to active care for suspected recurrences, with half occurring more than 5 years after entering survivorship. Presentation: 6/3/2024

8769 A Case of Metastatic and Catecholamine Producing Bilateral Pheochromocytoma in a Patient with RET Gene Mutation

Abstract Disclosure: R.A. Mayers: None. A. Szafran-Swietlik: None. RET mutation, observed in multiple endocrine neoplasia type 2 syndromes, is implicated in the development of pheochromocytomas of the kinase signaling cluster. Such tumors have lower metastatic risk and adrenergic production compared to the ones from the other clusters. We present a case of a metastatic, bilateral, small and biochemically active pheochromocytoma .This is the case of a 27-year-old man diagnosed with MEN 2A. He underwent total thyroidectomy due to medullary thyroid carcinoma at 2 years old. He was deemed cured and started on levothyroxine replacement. Since then, his plasma metanephrines by liquid chromatography-mass spectrometry and urine metanephrines done in a yearly basis as screening, were always within range of normality. Over the years, he developed substance abuse disorder with use of Kratom and methamphetamines and was admitted in a rehabilitation center multiple times in the last three years. During this time, the patient was reported to be slightly tachycardiac which was initially attributed to the use of substances. On the last year, an echocardiogram done as evaluation of his tachycardia showed an ejection fraction of 35%. Later, his annual metanephrine levels were markedly elevated (free metanephrine: 137 pg/mL and free normetanephrine : 157 pg/mL, normal ranges reported as less than 57 pg/mL and less than 148 pg/mL respectively). Abdominal tomography showed a right adrenal nodule of 1.2 cm and a left adrenal nodule of 1.6 cm, both with more than 10 Hounsfield Units. A Metaiodobenzylguanidine scan revealed a left adrenal nodule of 1.8 cm with diffuse radiotracer uptake, a right adrenal nodule of 1.2 cm with radiotracer activity and 3 subtle areas of focally increased radiotracer activity in the liver, two in left hepatic lobe and other in posterior right upper lobe. He underwent bilateral adrenalectomy with cortical sparring. Pathology results evidenced a left adrenal with a unifocal mass of 1.8 cm and a right adrenal with a mass of 1.2 cm , both without lymphovascular, capsular, local invasion or necrosis, a mitotic rate of 1-2 without atypical mitosis, not encapsulated with clean margins and positive for synaptophysin , chromogranin and S100 stains. An additional mass of 0.7 cm on the right adrenal gland was described with similar characteristics to the described before except for the involvement of the surgical margins. Currently on the literature there are different opinions regarding screening approach for pheochromocytomas in the presence of RET mutations. There are not strong recommendations regarding the use of imaging as a screening tool in this group of patients. It is important to consider that there are cases, as the one described in this report, that might present metastatic disease even with the presence of small pheochromocytomas that belong to the cluster of kinase signaling. Presentation: 6/3/2024

7510 Use Of Tumor Markers And Surgery In The Management Of Medullary Thyroid Cancer During Pregnancy

Abstract Disclosure: M. Garver: None. C. Vaz: None. Introduction: Thyroid cancer is the second most diagnosed cancer during pregnancy, predominantly differentiated thyroid malignancies. [1] MTC during pregnancy is rare and challenging to manage due to its aggressive nature. We describe the successful diagnosis and management of MTC during pregnancy. Clinical Case: A 28 yo woman presented with a rapidly growing neck lump for 2 months with an associated unintentional 10lb weight loss and without compressive symptoms. She had no history of childhood radiation exposure or family history of thyroid cancer. Physical exam revealed a hard L lobe thyroid nodule without palpable lymphadenopathy. The patient was 5 weeks pregnant at the time. A neck US revealed a 4.2x2.7x2.0 cm L solid isoechoic thyroid nodule with punctate echogenic foci and microcalcifications. The nodule was classified as TIRADS 4 and ATA high suspicion. FNA noted Bethesda IV with positive IHC stains for chromogranin and calcitonin. Afirma MTC classifier was positive, confirming diagnosis of MTC. At 7 weeks gestation, calcitonin was markedly elevated at 3508 pg/mL (n <5 pg/mL), CEA 29.5 ng/mL (n <2.5 ng/mL) and calcium 10.3mg/dL (8.6-10.2mg/dL). Plasma normetanephrines were elevated to176 pg/mL (n <148 pg/mL) with normal metanephrines 28 pg/mL (n <57 pg/mL) and normal 24-hour urine metanephrines. CT neck revealed 3.2x2.8cm L thyroid nodule without cervical lymphadenopathy. Due to pregnancy status, additional imaging to assess for metastatic disease was deferred until after delivery. Genetic testing did not identify mutations within the thyroid cancer panel including APC, CHEK2, DICER1, MEN1, PRKAR1A, PTEN, RET, SDHB, SDHD, and TP53. The patient underwent total thyroidectomy with neck dissection at 19 weeks gestation without complication. Two weeks postoperative Calcitonin was 2 pg/mL(n <5 pg/mL) and CEA was undetectable. Conclusions: The effect of pregnancy on MTC is not well studied because of low incidence. Guidelines on the timing of surgery for MTC diagnosed during pregnancy are lacking. While evidence confirms that surgery can be safely postponed until after delivery for low risk differentiated thyroid malignancies, there is no consensus on timing of surgery for MTC. Given the aggressive nature of MTC, along with marked elevation of calcitonin and CEA in this case, surgery was performed in the 2nd trimester with excellent outcome. Data is conflicting on accuracy of calcitonin and CEA during pregnancy, with some reports suggesting falsely high levels due to pregnancy. The sharp decline in calcitonin and CEA 2 weeks postoperatively suggested these were truly elevated due to MTC and unaffected by pregnant status. We suggest that calcitonin and CEA be followed similar to non-pregnant cases with MTC. Resources: 1.Khaled, H. M., Lahloubi, N. A., & Rashad, N. (2016). A review on thyroid cancer during pregnancy: Multitasking is required. Journal of Advanced Research, 7(4), 565–570. Presentation: 6/2/2024

The Long-Term Cure of Patients With Hereditary Medullary Thyroid Carcinoma: 40 Years of Follow-Up in a Single Center.

The cure rate of patients with hereditary medullary thyroid carcionoma (MTC) can be decisively improved by screening for elevated calcitonin (Ctn) levels and RET gene mutations in patients from families affected by multiple endocrine neoplasia type 2 (MEN2), followed by prophylactic thyroidectomy in persons with mutated RET genes. In this long-term observational study, we investigated whether postoperative cures are indeed maintained decades after the procedure. From 1979 to 2021, 277 patients with MEN2 who underwent thyroidectomy were observed postoperatively for 14.4 ± 10.3 years (mean, standard deviation). They were classified as either cured or not cured depending on the last measured serum Ctn level (cured, Ctn < 10 pg/mL or < 2 pg/mL; not cured, Ctn ≥ 10 pg/mL). Depending on their RET mutation status, they were categorized as moderate, high, or highest risk (121, 130, and 26 patients, respectively). 154 patients (55.6%) obtained a long-term cure (Ctn <10 pg/mL). The median age at surgery was 27, 14, and 4 years in patients at moderate, high, and highest risk. All 52 patients who had undergone prophylactic thyroidectomy before the age of 6 years, 9 years, or 6 months had a Ctn level below 2 pg/mL and were cured at the end of the follow-up period. In a multivariable analysis, prognostic factors for a long-term cure were a lower tumor stage and, by tendency, classification as belonging to the moderate as opposed to the highest-risk group. In patients receiving an early diagnosis of MEN2 via family screening, prophylactic thyroidectomy taking into account the RET mutation risk group can achieve a long-term cure of MTC with undetectable serum Ctn levels.

Variable Tracer Avidity and Interlesional Heterogeneity on 18 F-FDG, 68 Ga-DOTATATE, and 68 Ga-DOTA-FAPi-04 PET/CT Imaging in a Single Individual Patient With Progressive Metastatic Medullary Thyroid Carcinoma.

In medullary thyroid carcinoma (MTC), distant metastases have few therapeutic options with low success rates and substantial toxicity in many patients, warranting exploration of alternate systemic treatments with fewer adverse effects. The fibroblast activation protein inhibitor (FAPI)-based PET/CT opens new avenues for several cancers, including MTC. A case of MTC with varying tracer avidity and interlesional heterogeneity on 18 F-FDG, 68 Ga-DOTATATE, and 68 Ga-DOTA-FAPI-04 PET/CT imaging is presented. 68 Ga-DOTA-FAPI-04 PET/CT exhibited superior efficacy in terms of visualization of metastatic soft tissue, lymph nodal, and skeletal lesions, with enhanced target-to-background ratio compared with the other two, facilitating the detection of these lesions, thereby demonstrating the potential for theranostic translation.

Tailored management of advanced thyroid cancer patients treated with lenvatinib or vandetanib: the role of a multimodal approach.

In differentiated/poorly differentiated (DTC/PDTC) or medullary thyroid cancer (MTC) treated with kinase inhibitors (KIs), additional treatments (ATs) can be performed in selected cases. We retrospectively analysed all the ATs performed in our center in KI-treated TC patients, evaluating the subsequent KI modulation, the local PD in case of loco-regional procedure (LRP) and the AT-related complications. DTC/PDTC patients with or without progressive disease before the first AT (PD and NO PD GROUP, respectively) were analysed separately. In our center, 32 ATs (30 LRPs and 2 radioactive iodine treatments) were performed in 14 DTC/PDTC patients and 4 MTC subjects after the start of systemic therapy with lenvatinib or vandetanib (27 and 5 ATs, respectively). Brain was the most treated site (11/30 LRPs) and external beam radiation was the most employed LRP (18/30 LRPs). KIs dose reduction or discontinuation of KI therapy (at least transient) was performed after 50% of ATs in DTC/PDTC NO PD GROUP. The KI was maintained at the same dosage after 75% and 50% of the ATs performed in DTC/PDTC PD GROUP and MTC, respectively. During the follow-up, local PD was detected after 14 LRPs. Local progression-free survival (LPFS) was significantly shorter in DTC/PDTC PD GROUP in comparison to NO PD GROUP (12 month-LPFS 91.7% versus 15.2%); in patients with MTC, 12 month-LPFS was 50%. AT-related AEs were mostly G1-G2. In selected DTC/PDTC without previous PD and treated with a multimodal strategy, local disease control is generally maintained regardless the KI dose modulation. In DTC/PDTC patients with previous limited PD and in MTC subjects, the choice of performing a LRP and continue the ongoing KI therapy must consider the risk of early local progression. AT-related AEs in KI treated patients were mild in most cases.

B-355 Assessment of Calcitonin Cutoff Values for Post-Thyroidectomy Surveillance in Patients with Medullary Thyroid Carcinoma: Findings from a Single-Center Investigation

Abstract Background Patients with sporadic or hereditary Medullary Thyroid Carcinoma (MTC) often undergo total thyroidectomy and lymph node dissection, with postoperative surveillance relying on serum calcitonin levels and ultrasound examinations. According to American Thyroid Association (ATA) guidelines, detectable levels of serum calcitonin and Carcinoembryonic Antigen (CEA) post-thyroidectomy suggest potential disease persistence or recurrence, necessitating frequent monitoring for early detection. This study sought to reassess the role of postoperative calcitonin levels in identifying possible tumor recurrence. Methods A retrospective analysis was conducted using Siemens Atellica to test calcitonin levels in 562 samples collected between 09/27/2022 and 08/11/2023, at least 3 months post-total thyroidectomy. Imaging studies performed within 6 months of the calcitonin assessment were also reviewed. Sample pools with calcitonin concentrations near 3.00 and 5.00 pg/mL were utilized to determine the limit of quantification (LoQ). CEA results were included for comparison. Additionally, 16 serum samples were analyzed using the Roche Cobas system at a reference laboratory. Results Precision analysis around 3.00 and 5.00 pg/mL revealed coefficients of variation (CVs) of 16.49% and 8.87%, respectively. Comparison of calcitonin levels between Siemens Atellica and Roche Cobas systems demonstrated consistent levels &amp;lt; 5.00 pg/mL in 15 out of 16 samples, indicating alignment and reliability between the platforms. A calcitonin cutoff of 1.89 pg/mL yielded 43% sensitivity and 67% specificity, while a cutoff of 5.00 pg/mL resulted in 0% sensitivity and 100% specificity. Conclusions Our findings suggest that a 5 pg/mL calcitonin cutoff on the Siemens Atellica platform may be suitable for identifying tumor persistence or recurrence in post-thyroidectomy patients within our institution. However, individual laboratories should establish their LoQ criteria when interpreting calcitonin levels for postoperative monitoring of tumor recurrence.

Sporadic and Familial Medullary Thyroid Carcinoma: A Retrospective Single Center Study on Presentation and Outcome

ABSTRACT Background Medullary Thyroid Carcinoma (MTC) is a neuroendocrine tumor that arises from the thyroid C-cells. Most cases are sporadic (sMTC) while, approximately 25%, are hereditary (hMTC) due to germline mutations of REarranged during Transfection (RET) gene mutations and manifest in the framework of multiple endocrine neoplasia (MEN) 2A or 2B, or as pure familial MTC syndrome (FMTC). Objective The aim of this study is to evaluate the clinical, histopathological, biochemical and outcome differences between sMTC and hMTC. Methods Retrospective analysis of a consecutive series of 102 patients with histologically proven MTC diagnosed in the period between 2000 and 2022. For the analysis patients with MTC diagnosed during screening through genetic test were excluded. Results Patients with hMTC had higher incidence of multifocal and bilateral MTC and younger age at diagnosis. We did not found differences on tumor stage at diagnosis between sMTC and hMTC, such as time to progression and rate of persistent and recurrent disease. At univariate analysis, factors associated with persistent and recurrent disease during follow-up in patients with sMTC were tumor size, extrathyroidal extension, presence of lymph node metastases at diagnosis, pre- and post-operative calcitonin, post-operative CEA; in patients with hMTC, features associated with persistent and recurrent disease were lymph node metastases, post-operative calcitonin and pre- and post-operative CEA values. Conclusion Patients with hMTC and sMTC had similar histopathological characteristics and clinical outcome.

Genotype/phenotype correlations in multiple endocrine neoplasia type 2.

Multiple endocrine neoplasia type 2 (MEN 2) is a rare hereditary endocrine tumour syndrome caused by mutations in the rearranged during transfection (RET) gene. MEN 2 is divided into two main entities, MEN 2A and MEN2B, both of which present with medullary thyroid cancer (MTC) in approximately 100% of cases and pheochromocytoma in 50% of cases. Specific RET mutations are associated with a risk of early onset of MTC, from 1 year of age (highest risk) to 5 years of age (high risk). This risk defines the optimal timing for thyroidectomy, ideally at an age when the disease has not spread. This is the most important genotype-phenotype correlation observed in MEN 2. Specific RET mutations also define the penetrance of pheochromocytoma. However, despite the presence of these highest/high risk variants, some patients unexpectedly present with non-aggressive MTC or never present with pheochromocytoma, suggesting that factors other than the major RET variant may modify the natural history and genotype-phenotype correlations. Improving our understanding of the genotype-phenotype correlations would allow individualizing the management and follow-up of patients with MEN 2. The aim of this brief review is to discuss the main genotype-phenotype correlations in MEN 2 and the potential factors that might influence these correlations.

Hybrid Somatostatin Receptor PET/MRI of the Head and Neck.

Hybrid PET/MRI has the potential to transform neuro-oncologic imaging, particularly in diagnosis and treatment planning of somatostatin receptor-expressing tumors of the head and neck. Hybrid PET/MRI combines high-resolution MRI with functional information from PET, providing precise anatomic information and overcoming difficulties in localization inherent to PET alone. There is a range of tumors in the head and neck that overexpress somatostatin receptors and are therefore amenable to evaluation with somatostatin receptor PET/MRI. These include meningiomas, paragangliomas, olfactory neuroblastomas, pituitary neuroendocrine tumors, middle ear neuroendocrine tumors, and medullary thyroid carcinomas. The combination of PET and MRI is superior to either modality alone and can address several unique diagnostic challenges associated with these lesions. The authors discuss the superior capabilities of somatostatin receptor PET/MRI, including improved lesion localization, more sensitive demonstration of disease extent, enhanced surveillance, optimized radiation therapy planning, and accurate prediction of response to somatostatin analog therapy. Although there are only a few dedicated PET/MRI units available in clinical practice, commercial software is now available that can automatically fuse PET/CT data with recently acquired MRI data, increasing the availability of this approach. Radiologists should be aware of the advantages of somatostatin receptor PET/MRI in evaluation of head and neck tumors as well as the potential pitfalls of this approach so that they can accurately advise clinicians and better interpret these studies. ©RSNA, 2024 See the invited commentary by Shatzkes and Strauss in this issue.

Diagnostic challenges in calcitonin negative medullary thyroid carcinoma: a systematic review of 101 cases.

Calcitonin-negative medullary thyroid carcinoma (CNMTC), a rare form of MTC characterized by classic histopathology with normal serum calcitonin levels, presents a diagnostic challenge. This systematic review aims to summarize the clinical and pathological features of CNMTC and evaluate the utility of alternative biochemical markers. Eligibility criteria for this systematic review included patients with a confirmed histopathological diagnosis of medullary thyroid carcinoma (MTC), normal preoperative serum calcitonin levels, or negative immunohistochemical (IHC) stain for calcitonin. A comprehensive electronic search strategy was employed on PubMed, Scopus, and Embase databases from January 1st, 1950, to March 9th, 2023. This systematic review consists of 32 studies with 101 patients (66% females, 33% males) with a mean age of 52.2 years. All patients had a preoperative serum calcitonin level below the upper reference limit. Out of 101 patients, only seven underwent the Pentagastrin Stimulation Test (PST), only two patients had elevated calcitonin levels after stimulation. A total of 59 patients were tested for carcinoembryonic antigen (CEA) levels, and the majority tested normal (n=51, 86.4%). A total of 57 patients (61.2%) were found to have positive IHC staining on operative specimens for calcitonin. No recurrence was reported in the majority of cases, only 10 patients (9.9%) experienced recurrence. Despite the rarity of CNMTC, it is crucial to maintain a high level of suspicion when evaluating thyroid nodules. Total thyroidectomy with central neck dissection remains as the primary treatment. A multimarker approach may improve the sensitivity and specificity of CNMTC diagnosis and surveillance, particularly when calcitonin and CEA levels are inconclusive.

Cellular Mechanisms of RET Receptor Dysfunction in Multiple Endocrine Neoplasia 2.

REarranged during Transfection (RET) is a developmentally important receptor tyrosine kinase that has been identified as an oncogenic driver in a number of cancers. Activating RET point-mutations give rise to the inherited cancer syndrome Multiple Endocrine Neoplasia type 2 (MEN2), characterized by medullary thyroid carcinoma. There are two MEN2 subtypes, MEN2A and MEN2B, that differ in tumour aggressiveness and the associated constellation of other disease features, which are caused by distinct patterns of RET amino acid substitution mutations. MEN2A-RET mutations affecting extracellular cysteine residues promote ligand independent dimerization and constitutive RET activity, while MEN2B is caused by a single amino acid change in the tyrosine kinase domain of RET, releasing autoinhibition and producing a more active MEN2B-RET kinase that can promote signalling as monomers or dimers in the absence of ligand. These mutations cause intrinsic biochemical changes in RET structure and activation but also trigger extrinsic effects that alter RET cellular location, interactions and mechanisms of downregulation that can prolong or mislocate RET activity, changing or enhancing functional outcomes. Together, changes in specific combinations of RET-mediated effects associated with different mutations give rise to the distinct MEN2 disease phenotypes. Here, we discuss the current understanding of the intrinsic and extrinsic characteristics of RET MEN2A cysteine and MEN2B mutants and how these contribute to transforming cellular processes and to differences in tumour progression and disease aggressiveness.

La prise en charge des cancers médullaires de la thyroïde en 2024

MANAGING MEDULLARY THYROID CARCINOMA IN 2024: Medullary thyroid carcinoma is a rare neuroendocrine thyroid cancer with a heterogeneous prognosis which has the particularity of being associated with a RET gene mutation, germline in 20-25% of cases in the context of multiple endocrine neoplasia type 2 (NEM2), and somatic in 70% of sporadic cases. It is often diagnosed on a thyroid nodule or in the context of genetic screening. Calcitonin is a biological marker, used for diagnosis, monitoring of therapeutic response and prognostic evaluation. The only curative treatment is surgery for localized disease. The extent must be carefully assessed, particularly in terms of calcitonin levels and imaging, and carried out by an expert surgeon. The prognosis of locally advanced or metastatic disease is highly heterogeneous. Histological factors, such as high grade, or biological factors, such as calcitonin doubling time, can help assess prognosis. The development of multi-kinase inhibitors cabonzantinib and vandetanib, and RET-targeted inhibitors selpercatinib, has completely changed the therapeutic arsenal for advanced disease, but their prescription is reserved to progressive disease with high tumor volume or to symptomatic disease inaccessible to local treatment in expert centers from the ENDOCAN-TUTHYREF network. Active surveillance is the alternative of choice for slowly progressing disease.

12486 Clinical Manifestations And Mortality Outcomes Of Multiple Endocrine Neoplasia Type 2 Patients With Medullary Thyroid Cancer In Korea Using The National Health Insurance Service Database

12486 Clinical Manifestations And Mortality Outcomes Of Multiple Endocrine Neoplasia Type 2 Patients With Medullary Thyroid Cancer In Korea Using The National Health Insurance Service Database

12486 Clinical Manifestations And Mortality Outcomes Of Multiple Endocrine Neoplasia Type 2 Patients With Medullary Thyroid Cancer In Korea Using The National Health Insurance Service Database

12486 Clinical Manifestations And Mortality Outcomes Of Multiple Endocrine Neoplasia Type 2 Patients With Medullary Thyroid Cancer In Korea Using The National Health Insurance Service Database

Living with a RET gene mutation: patient perspectives.

Multiple endocrine neoplasia type 2 (MEN2) is the collective term for 2 distinct types of autosomal dominantly inherited neuroendocrine neoplasm (NEN) syndromes (Barakat, 2004); MEN2A and MEN 2B (or MEN3). MEN2 is characterised by medullary thyroid cancer (99%) and phaeochromocytoma (50%) but also other conditions according to specific genotype. MEN2A also includes a 25% risk of developing parathyroid hyperplasia and is now recognised as 4 separate syndromes: Classic MEN2A, MEN2A with cutaneous lichen amyloidosis (CLA), MEN2A with Hirschsprung's disease (HD) and Familial MTC (Wells, 2015). MEN2B accounts for around 5% of all MEN2 cases and predisposes patients to diffuse intestinal ganglioneuromatosis (Goncharova, 2020), mucosal neuromas, and musculoskeletal abnormalities (Henderson, 2022). MEN2 is autosomal dominantly inherited meaning that several generations in a single family may be affected by the same syndrome. We present a mini review of 4 case studies (x2 MEN2A, x2 MEN2B) that illustrate the advantages of RET testing, as well as some of the likely obstacles that must be overcome to receive a diagnosis of MEN2A or MEN2B. In addition, despite improved genotype/phenotype correlation in MEN2, we highlight that not all cases are 'typical' which emphasises the need for all MEN2 patients to be cared for in a centre of expertise and experience. Some of our case study patients or parents also took this opportunity to personally tell us more about their lives with MEN2, illustrating the need for more research into the psychosocial impact of these hereditary diseases.

Médecine nucléaire et cancers de la thyroïde en 2024 : iode 131, TEP et nouvelles approches théranostiques

NUCLEAR MEDICINE AND THYROID CANCERS IN 2024: IODINE 131, PET AND NEW THERANOSTIC APPROACHES: Nuclear medicine has long been a mainstay in the management of thyroid cancers. In patients with differentiated thyroid cancer (DTC), the most common histotype, radioiodine (RAI, 131I) has been for years a cornerstone for the treatment of RAI-avid metastases. Post-therapeutic 131I scintigraphy helps guide these treatments and contributes to the definition of refractory cancers. In these refractory patients, who represent fewer than 5% of CTDs, 18FDG PET plays a central diagnostic and prognostic role. From a therapeutic perspective, RAI uptake can be re-induced in some of these patients with the BRAF mutation by using redifferentiation protocols. In anaplastic thyroid cancer (A TC) that is rare, aggressive and undifferentiated, 18FDG PET remains the metabolic imaging of choice. In medullary thyroid cancer (MTC), PET imaging is mainly based on the use of 18F-DOPA, even if 18FDG also provides prognostic data and 68Ga-DOTATOC could allow a theranostic approach. Other radiopharmaceuticals offering new theranostic avenues in thyroid cancers are also discussed, such as prostate-specific membrane antigen (PSMA) and fibroblast activation protein (FAP). After decades of a "one-size fits all" approach in thyroid cancer management, molecular imaging is paving the way towards personalized medicine.

7713 Remission of Ectopic Cushing Syndrome Due to Medullary Thyroid Cancer with Selpercatinib

7713 Remission of Ectopic Cushing Syndrome Due to Medullary Thyroid Cancer with Selpercatinib

Thyroglobulin and calcitonin measurements: pitfalls and future perspectives.

Thyroid cancer is the most prevalent endocrine cancer. Prognosis depends on type and stage of cancer when discovered. Treatment involves (hemi-)thyroidectomy, possibly followed by additional therapeutic options. After treatment, patients are monitored using serum concentrations of endocrine tumour marker thyroglobulin in case of differentiated cancer and calcitonin in case of medullary thyroid cancer. Measuring thyroglobulin and calcitonin concentrations in serum may be challenging. In this review we give a complete overview of the evolvement in laboratory measurements regarding thyroglobulin and calcitonin with an emphasis on (pre-)analytical challenges and potential approaches to overcome current pitfalls.

7510 Use of Tumor Markers and Surgery in the Management of Medullary Thyroid Cancer During Pregnancy

7510 Use of Tumor Markers and Surgery in the Management of Medullary Thyroid Cancer During Pregnancy