bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT512 Familial Thyroid Cancer With Negative Pre-operative Genetic Screening
Authors: Yuen Alexa , Owen Randall , Saul Shira R 
Published: October 2023

Abstract
Disclosure: A. Yuen: None. R. Owen: None. S.R. Saul: None.
Today it is estimated that the etiology of approximately 90% of thyroid cancer cases are understood, compared to only 25% in the 1990s. However, despite the encouraging progress with oncogenetic screening panels, thyroid cancer-specific testing are not always included. We present a family with 3 generations of thyroid cancer with negative genetic screening ultimately found to have BRAF mutation post-operatively. A 62-year-old woman of Brazilian descent with a medical history of papillary thyroid cancer (PTC) status-post total thyroidectomy presented to clinic. The patient’s PTC was diagnosed 10 years prior when she presented with dysphagia and vocal changes. A thyroid ultrasound revealed a right-sided 2.3 cm solid mass and a fine needle aspiration confirmed PTC. The patient underwent a total thyroidectomy with pathology verifying a PTC with lymphovascular invasion and minimal local extrathyroidal extension as well as a 0.4 cm microcarcinoma in the left lobe. Post-operatively, she received 100 millicurie of radioactive iodine and was started on levothyroxine. Interestingly, the patient reported as strong family history of varying cancers, notably colon, breast, uterine, and thyroid. Her mother was diagnosed at 55-years-old with thyroid cancer that metastasized to her lungs and her daughter was found to have PTC at age 31-years-old. Additionally, the daughter has two teenage sons, both with multiple thyroid nodules who are currently being followed by a pediatric endocrinologist. Given this history, the patient and her daughter both completed genetic testing which was negative for the 42 known mutations associated with an increased risk of cancer, though they both were heterozygous for a mutation of uncertain clinical significance in the MSH2 gene, specifically the c.959C&gt;G (pT320S). Although the standard genetic panel was negative, due to concern for a hereditary mutation, the patient’s thyroidectomy specimen was sent for analysis and confirmed a BRAF mutation. Subsequently, the patient’s daughter also underwent completion thyroidectomy and was found to have the BRAF mutation. This family demonstrated likely hereditary BRAF-associated PTC across 3 generations with children in the fourth generation having known thyroid nodules, generally rare in youth. Although the patient and her daughter were both tested for genetic mutations linked to cancers, neither were positive and it was only after undergoing surgery that they were found to have the BRAF mutation. Although BRAF mutations account for 45% of PTC and are the most commonly associated mutation, they are not commonly included in pre-operative screening or the standard oncogenetic screening panel. Developing a thyroid cancer specific mutation panel to screen family members of patients with thyroid cancer will be an important step in determining these individuals’ best management.
Presentation Date: Saturday, June 17, 2023
SAT522 Validating Molecular Testing As An Adjunct To Fine Needle Aspiration In Pediatric Thyroid Malignancy
Authors: Aekka Apoorva , Arva Nicoleta , Raval Mehul , Rastatter Jeffrey , Finkelstein Sydney David , Levine Jonathan , Josefson Jami 
Published: October 2023

Abstract
Disclosure: A. Aekka: None. N. Arva: None. M. Raval: None. J. Rastatter: None. S.D. Finkelstein: Employee; Self; Interpace Biosciences. J. Levine: Employee; Self; Interpace Biosciences. J. Josefson: None.
The standard diagnostic approach for thyroid malignancy includes evaluation of cytopathology derived from thyroid fine needle aspiration (FNA). Nearly 40% of pediatric cases have indeterminate FNA results, and there is no clear consensus regarding the management of these cases. Molecular analysis is beneficial in increasing diagnostic yield and informing treatment stratification in adults, although its use remains limited in pediatrics. This study sought to assess the validity of next-generation sequencing mutational analysis and microRNA (miRNA)-based risk classification of FNA cytopathology derived from a single-center cohort of pediatric patients. The study hypothesized that molecular analyses improve diagnostic performance of FNA for children with thyroid cancer. Interpace Diagnostics’ validated multiplatform tool comprised of ThyGeNEXT (mutational panel capturing 10 oncogene sequence variants and 38 fusions) and ThyraMIR (miRNA risk classifier including 11 miRNA markers) was utilized for this study. Multiplatform testing was performed on 27 archived FNA thyroid samples collected from patients ages 7-20 years (mean age 14.1 years, 78% female). Molecular results were compared with final surgical pathology or repeat FNA results to determine validity. Surgical pathology confirmed papillary thyroid carcinoma in 14 patients and benign pathology in 6 patients. Repeat FNA confirmed benign pathology in 2 patients. Surgical pathology or repeat FNA was unavailable for 5 cases, all of which had benign initial cytopathology. The most common mutational finding was BRAF_V600E (6/14) followed by RET-PTC fusions (3/14). MiRNA findings were as follows: 16 high-risk expression profiles, 3 low-risk expression profiles, and 8 negative profiles. The validation analysis included 22 samples that had corresponding surgical or repeat FNA results. All cases of malignancy demonstrated high-risk miRNA profiles and all benign cases demonstrated negative or low-risk miRNA profiles. Multiplatform molecular testing demonstrated 100% sensitivity, 87.5% specificity, 93.3% positive predictive value, and 100% negative predictive value in detecting malignant versus benign pathology in our population. Molecular analyses appear to be a valid adjunct to FNA in pediatric thyroid cancer evaluation. Incorporation of molecular diagnostics advances precision medicine in pediatric thyroid care and may better inform presurgical treatment stratification, mitigate risks associated with unnecessary procedures, and ultimately improve outcomes for children and adolescents with thyroid nodules.
Presentation Date: Saturday, June 17, 2023
SAT524 Relaxin: A Novel Marker for Pro-Tumoral Thyroid Cancer Microenvironment?
Authors: Kotwal Anupam , Bennett Robert G , Swanson Benjamin , Goldner Whitney , Yuil-Valdes Ana , Whiteman Nicholas , Shats Oleg 
Published: October 2023

Abstract
Disclosure: A. Kotwal: None. R.G. Bennett: None. B. Swanson: None. W. Goldner: None. A. Yuil-Valdes: None. N. Whiteman: None. O. Shats: None.
Background: Differentiated thyroid cancer (DTC) generally has a favorable prognosis, however, 30% have recurrence and progression hence there is a critical need to identify additional prognostic and potentially therapeutic markers. Relaxin inhibits the inflammatory macrophage type (M1) but promotes the anti-inflammatory macrophage type (M2) which is favorable for tumor growth, hence deserves to be investigated in the DTC tumor microenvironment (TME). Hypothesis: Relaxin is expressed in DTC and is associated with pro-tumoral macrophage infiltration. Methodology: A tissue microarray (TMA) with cores per specimen was created from surgical thyroid tissue from 55 adults with DTC localized to the neck. Fluorescent immunohistochemistry (FIHC) using antibodies against nucleus (DAPI), macrophage (CD68), M2 macrophage (CD163), and relaxin (RLN2) was performed on this TMA. Gene (qPCR) and protein (Western blot) expression of RLN2 and its receptor RXFP1 in thyroid cell lines were also identified. Results: The median age was 50 years (range 19-78), 73% were females, 65% were classic and 24% follicular variant of papillary thyroid cancer. 87% were AJCC stage I while the rest were stage II; 54% were ATA low risk, 31% intermediate risk and 15% high risk. Relaxin was strongly expressed in human DTC tissue and had a strong positive correlation with the abundance of CD163 (M2 macrophages) with an r2=0.55 (p&lt;0.0001) but did not colocalize with macrophages. In vitro experiments demonstrated variable expression of relaxin and its receptor RXFP1 in human thyroid cell lines. Conclusions: Our pilot study concluded that relaxin expression and its positive correlation with pro-tumoral M2 macrophage infiltration in the TME make it a potential biomarker for the occurrence and prognosis of DTC in humans. Thyroid cell lines’ expression of relaxin and its receptor RXPF1 complement the TMA findings, hence may serve as a model for developing therapeutic options against advanced thyroid cancer.
Presentation Date: Saturday, June 17, 2023
SAT531 Thyroid Metastasis From Non-small Cell Lung Cancer: An Unusual Case Presentation
Authors: Ibrahim Eiman Y , Alvarez Ian Guillen , Hulinsky Ilja , Regelmann David , Janowiecki Christopher 
Published: October 2023

Abstract
Disclosure: E.Y. Ibrahim: None. I. Guillen Alvarez: None. I. Hulinsky: None. D. Regelmann: None. C. Janowiecki: None.
Background: Cases of thyroid tumors metastasizing from the lungs are rare, and their diagnosis is often challenging and can be mistaken for primary thyroid tumors or subacute thyroiditis. Thyroid function tests are typically normal and not helpful in establishing the diagnosis. Ultrasonography commonly shows focal or diffuse hypoechoic lesions. Correspondingly, heterogeneous hypodense areas with mild contrast enhancement are seen on CT scans. Clinical Case: Our patient is a 61-year-old male with a history of diabetes mellitus and 40 years tobacco use, who presented with a 1-week history of right-sided weakness and 3-weeks of dry cough. The weakness of his leg progressed to the point he could not ambulate. Initially, he was evaluated for a stroke and underwent CT imaging showing extensive lesions of the bilateral frontal, temporal, and parietal lobes. These findings were suspicious, and confirmed by MRI, to reflect multifocal metastatic lesions with vasogenic edema. Initial physical examination revealed a palpable thyroid nodule in the right lobe with bilateral cervical lymphadenopathy. CT of the neck demonstrated lymphadenopathy as well as multiple bilateral hypoechoic thyroid nodules, the largest of which measured 0.8 cm in the right thyroid lobe. TSH was 0.34 (0.48-4.17mU/L) with Free T4 at 1.39 (0.8-1.90ng/dL). The patient had denied symptoms of heat intolerance, tremor, or palpitations. A CT chest with contrast found a 3.5 cm cavitary lesion in the right upper lobe concerning for a primary lung neoplasm, as well as multiple bilateral lung nodules, mediastinal and hilar lymphadenopathy, and bilateral adrenal masses. Subsequent ultrasound-guided biopsy of the thyroid tumor revealed histologic features of a poorly differentiated non-small cell carcinoma, with features of a primary lung origin. These features were also present on a concurrent fine needle biopsy of an enlarged cervical lymph node. Immunohistochemistry staining showed the tumor was highly expressive for PDL1, focally positive for p40, pancytokeratin AE1/AE3, and negative for TTF-1 and thyroglobulinDue to the vasogenic cerebral edema, he was given dexamethasone with good response, and his weakness improved to the point that patient was able to ambulate. Treatment also included radiation therapy with subsequent pembrolizumab upon completion of radiotherapy. Conclusion: Several thyroid lesions representing metastases may go unnoticed because the physician’s attention toward lesions at other, more common sites, and detailed thyroid examination can be commonly overlooked. Patients with newly diagnosed malignancies should also be screened for thyroid involvement, including detailed physical, radiographic, and histologic examination of pathologic findings.
Presentation Date: Saturday, June 17, 2023
SAT532 A Rare Case of Thyroid Carcinoma Noted in a Patient with Thyroid Nodule Showing Prior Benign Biopsy and Prior Negative Molecular Testing
Authors: Hillhouse Melodie Mariah , Madhavan Parvathy , Woron Felicia M 
Published: October 2023

Abstract
Disclosure: M.M. Hillhouse: None. P. Madhavan: None. F.M. Woron: None.
Background: Molecular studies have a high sensitivity for ruling out malignancy (1). This patient was diagnosed with the follicular variant of papillary thyroid carcinoma despite negative molecular testing and benign cytology in multiple prior biopsies. Clinical Case: 31 y.o. female with a past medical history of Hashimoto's disease on levothyroxine presented for follow up of thyroid nodules. She does not have a family history of thyroid cancer or personal history of neck radiation. The patient was noted to have a right thyroid nodule around 14 years of age and this was monitored during her childhood. The nodule measured 2.3 x 0.6 cm on ultrasound in 2015. The nodule measured 2.0 x 1.6 x 1.5 cm in 2017. FNA in 2017 revealed benign cytology (Bethesda II). On ultrasound in 03/2019, the nodule measured 2.2 x 1.5 x 1.8 cm. The nodule demonstrated a greater than 20% increase in all dimensions on ultrasound images in 12/2020 to 2.9 x 2.0 x 2.6 cm. A repeat ultrasound in 04/2021 demonstrated no significant change in size. Repeat FNA performed in 07/2021 demonstrated clusters of follicular cells in flat and microfollicular groups and was interpreted as atypia of undetermined significance (Bethesda III). AFIRMA testing was benign (∼4% of malignancy. The nodule increased in size to 3.5 x 2.6 x 3.1 cm on ultrasound in 07/2022. It appeared solid and hyperechoic and was classified as TI-RADS 3. A new 0.8 cm nodule on the left lobe was also identified. Repeat FNA of the right nodule in 09/2022 demonstrated macrophages, colloid and groups of follicular cells and was classified as non-diagnostic (Bethesda I). She reported difficulty breathing in the supine position and she underwent a right hemithyroidectomy and isthmusectomy in 11/2022. Pathology results were remarkable for invasive encapsulated follicular variant of papillary thyroid carcinoma with focal angioinvasion and tumor capsular invasion. The margins were negative for tumor. The parenchyma was consistent with lymphocytic thyroiditis. Ultrasound after interval right hemithyroidectomy in 12/2022 in an outside facility demonstrated an unchanged subcentimeter left thyroid nodule and multiple bilateral anterior cervical/level 6 lymph nodes suspicious for metastatic disease given the absence of hilum. Patient is currently undergoing repeat imaging and work up for the lymphadenopathy. Conclusion: This case study highlights the importance of maintaining high clinical suspicion for thyroid malignancy in cases of increasing thyroid nodule size and compressive symptoms despite negative cytological and molecular testing. References: (1) Kloos, R. Molecular Profiling of Thyroid Nodules: Current Role for the Afirma Gene Expression Classifier on Clinical Decision Making, Mol Imaging Radionucl Ther. 2017 Feb; 26(Suppl 1): 36-49.
Presentation Date: Saturday, June 17, 2023
SAT402 A Multimodal Curriculum To Improve Medical Student Gender-affirming Communication Skills
Authors: Jones Robert Benson , Maskart Cori , Radway Janice M , Amaro Anastassia , Cardillo Serena 
Published: October 2023

Abstract
Disclosure: R.B. Jones: None. C. Maskart: None. J.M. Radway: None. A. Amaro: None. S. Cardillo: None.
Introduction: Transgender and gender-diverse (TGD) people, whose gender identities and/or expression(s) exist outside the gender binary, are marginalized in healthcare. They often meet medical providers who do not have the skills or experience to address issues relevant to TGD persons. This can lead to suboptimal care and in some situations, micro- or macroaggressions. Physicians can help create a welcoming environment for gender-diverse people by addressing them in a respectful and affirming way. Physicians and trainees, however, rarely receive formal instruction or simulated training to practice providing gender-affirming care.
Objective: The goal of the session was to give medical students an opportunity to observe, practice, and debrief medical encounters with gender-diverse patients. We collaborated with TGD standardized patients (SPs) and the standardized patient program to design a multimodal communication skills session:
- 20-minute didactic lecture reviewing health care disparities affecting gender-diverse individuals and examples of gender-affirming language
- 15-minute video encounter showing a provider misgendering a TGD SP then recovering, followed by a provider not misgendering the patient
- 45-minute small group session where students take a history for a patient beginning hormone treatment to facilitate gender transition.
Students receive feedback from the SP and preceptor. Notable design characteristics include TGD SPs involved in the curriculum and case scenario creation, piloting of the session, and recruitment of only faculty preceptors with clinical experience in gender-affirming hormone treatment (GAHT) to facilitate sessions.
Results/Conclusions: 124 students completed the curriculum. Prior to and one week after the curriculum, students completed a 5-point self-assessment survey measuring six items: pronoun use, recovery from misgendering, communication skills with TGD knowledge, ability to take a targeted history, mental health effects of GAHT, and how to assess for treatment goals, skills, and attitudes with respect to gender-diverse healthcare. 85 students completed the pre-survey and 32 students completed the post-survey. When results were dichotomized to low (1-3 on scale) and high (4-5) comfort or ability, over 50% of students who completed the post-survey changed from low to high in their self-rated ability to take a targeted history, knowledge of the mental health effects of GAHT and how to assess for treatment goals. Qualitatively, SPs thought preceptors were particularly knowledgeable and affirming in the topic. Student feedback suggested the need for smaller group sizes which will be adapted for future iterations.
Presentation: Saturday, June 17, 2023
SAT404 Achieving Both Target Testosterone And Target Estradiol Levels May Not Be Practical In All Trans Feminine Users Of Estradiol - Which To Prioritize?
Authors: Slack Daniel , Krishnamurthy Nithya , Contreras-Castro Felix , Safer Joshua David 
Published: October 2023

Abstract
Disclosure: D. Slack: None. N. Krishnamurthy: None. F. Contreras-Castro: None. J.D. Safer: None.
For feminizing gender affirming hormone therapy (GAHT), the Endocrine Society and WPATH SOC 8 suggest targeting testosterone (T) levels below 50 ng/dL and estradiol (E2) levels in the range of 100-200 pg/mL. However, studies have shown variability in correlation between E2 and T levels. We sought to determine how often medically treated trans feminine individuals on estradiol needed to achieve the E2 goal in order to achieve the T goal. We conducted a chart review of patients actively engaged in GAHT in the Mount Sinai Health System. Included in our analysis were all individuals who had active prescriptions for feminizing GAHT with both T and E2 levels recorded (n = 1,195). We divided the patients between those with T levels at goal &lt; 50 ng/dL (n = 737) and those with T &gt;= 50 ng/dL (n = 458). The mean E2 level was higher in the T &lt; 50 ng/dL group compared to the T &gt;= 50 ng/dL group (292 vs 101 pg/mL; p &lt;.001). We then compared the proportions of individuals with E2 above target &gt; 200 pg/mL (n = 279), at target 100 - 200 pg/mL (n = 296), and below target &lt; 100 pg/mL (n = 620) in the two groups. The T &lt; 50 ng/dL group contained a higher proportion of individuals with E2 &gt; 200 pg/mL (33.5% vs 7%; p &lt; .001) and E2 100 - 200 pg/mL (30% vs 16.4%; p &lt; .001), along with a lower proportion of individuals with E2 &lt; 100 pg/mL (36.5% vs 76.6%; p &lt;.001). Our results indicate that those with E2 &gt; 100 pg/mL were more likely to have a T &lt; 50 ng/dL, but approximately one-third of the T &lt; 50 ng/dL group was made up of individuals with E2 &lt; 100 pg/mL. That is, nearly half (43%) of all individuals with E2 &lt; 100 pg/mL had T levels at goal &lt; 50 ng/dL. Would more exogenous estradiol add benefit for these people or would it simply increase VTE risk for no reason? Also, while the majority of individuals with E2 100 - 200 pg/mL (74.7%) and E2 &gt; 200 pg/mL (88.5%) had a T &lt; 50 ng/dL, there were still many who did not. Our findings suggest that not all trans feminine individuals on feminizing hormone therapy will achieve target levels of both T &lt; 50 ng/dL and E2 100-200 pg/mL. It may be reasonable to expand the target T and E2 ranges to allow for more flexibility or it may be practical to focus on one goal, rather than both. Further stratification by spironolactone (or other adjunct agent) use, estradiol route of administration, and other testing (e.g. LH and FSH levels) may inform the strategy.
Presentation: Saturday, June 17, 2023
SAT407 Hematospermia In Transgender Woman Revealing Occult Endometriosis
Authors: Coleman-Belin Janet C , Reisman Tamar 
Published: October 2023

Abstract
Disclosure: J.C. Coleman-Belin: None. T. Reisman: None.
Background: While hematospermia (visible blood in ejaculate) is most frequently benign, etiology includes idiopathic, infection, prostate disease, iatrogenic, obstruction, systemic disorders, and (rarely) malignancy. The incidence and prevalence of hematospermia in transgender women is unknown.
Clinical Course: A 35-year-old transgender woman treated with estradiol valerate and leuprolide presents with persistent hematospermia and two years of intermittent hematuria. She does not report dysuria, urgency, frequency, or gastrointestinal symptoms and is a lifetime nonsmoker. Chlamydia, gonorrhea, and HIV tests are negative. CT scan 4/2021, cytoscopy 5/2021, and MRI prostrate 7/2022 (with and without IV contrast) were unremarkable.
Transrectal ultrasound 9/2022 reveals 17cc prostate and posterior cyst with hemorrhagic products. Two ultrasound-guided transperineal biopsy samples obtained from the cystic structure 11/2022 reveal benign prostatic tissue with a small focus of endometrial-type epithelium (positive immunostains for PAX 8 and ER in epithelium and CD10 in stroma). These findings may indicate endometriosis or a Müllerian cyst.
Discussion: The prevalence of endometrial tissue in transgender woman has not been described. Risk factors for endometriosis in AMAB* individuals are hypothesized to include prolonged estrogen exposure, cirrhosis, or chronic post-procedural inflammation1. Because transgender women are routinely treated with extended estrogen-containing regimens, it is of interest to determine if the presence of endometrial tissue is more common than previously thought. Guidelines for management of benign endometrial-type epithelium in transgender women are lacking, including whether ectopic endometrial tissue should be excised due to concern for malignant transformation2.
Conclusion: Hematospermia in transgender women on GAHT** may indicate occult Müllerian epithelial tissue growth.
*AMAB: Assigned Male at Birth **GAHT: Gender-Affirming Hormone Therapy
References: 1. Rei C, Williams T, Feloney M. Endometriosis in a Man as a Rare Source of Abdominal Pain: A Case Report and Review of the Literature. Case Rep Obstet Gynecol. 2018 Jan 31;2018:2083121. doi: 10.1155/2018/2083121. PMID: 29670782; PMCID: PMC5833878.
2. Robinson, K.A., Menias, C.O., Chen, L. et al. Understanding malignant transformation of endometriosis: imaging features with pathologic correlation. Abdom Radiol 45, 1762–1775 (2020). https://doi.org/10.1007/s00261-019-01914-7
Presentation: Saturday, June 17, 2023