Parathyroid Carcinoma Presenting Research Articles

7159 Brown Tumor As Primary Presentation Of Parathyroid Carcinoma In A Young Female

Abstract Disclosure: S.G. Zachariah: None. R. Anand: None. B.Y. Wong: None. H.J. Lee: None. Title Brown Tumor as Primary Presentation of Parathyroid Carcinoma in a Young Female Introduction/Background: Parathyroid carcinoma (PC) is a rare cause of hyperparathyroidism (HPT) accounting for less than 1% of primary HPT cases. The mean age of PC presentation is 62 years. Long-standing HPT can lead to the formation of osteitis fibrosis cystica (brown tumors). In today’s world of advanced screening, they are an increasingly rare presentation of HPT. We present a case of PC presenting as multiple brown tumors in a young woman. Case: A previously healthy 32-year-old woman presented to the emergency department with right shoulder pain after a mechanical fall. MRI revealed multiple osseous lesions of the proximal humerus, glenoid, and scapula, concerning for possible metastatic malignancy. Notable labs: calcium 13.6 mg/dL [8.5 - 10.5 mg/dL], phosphorus 1.7 mg/dL [2.5 - 4.5 mg/dL], alkaline phosphatase 2,369 U/L [< 130 U/L], 25-OH vitamin D 0.8 ng/mL [30 - 60 ng/mL], and parathyroid hormone greater than 2,500 pg/mL [20-80 pg/mL]. Albumin and renal function were normal. CT chest/abdomen/pelvis showed lytic lesions of the left 7th rib, anterior superior iliac spine (with nondisplaced fracture), pelvis, and sacrum. Subsequent pelvic biopsy showed fragmented bony trabeculae with osteoblastic rimming and rare osteoclasts, fragments of fibrous tissue with few plasma cells and hemosiderin laden macrophages, possibly consistent with brown tumor. On parathyroid ultrasound, a 2.2 cm cystic mass was seen along the left common carotid artery. CT neck confirmed the location and also reported C7-T1 spinal lesions. Calcium levels stabilized with IV fluids and 90 mg IV pamidronate. She underwent a left parathyroidectomy and left hemithyroidectomy with central neck dissection. Pathology was consistent with a low-grade parathyroid carcinoma, with a foci of angioinvasion and capsular invasion without lymph node metastases. The Ki-67 index was less than 1%. Post-operatively, the patient was started on calcium and calcitriol supplementation and did not experience hungry bone syndrome. On further discussion, the patient noted that she had a jaw tumor that was previously biopsied and found to be benign. The patient has since been referred for genetic testing. Conclusion/Clinical Lessons: Both PC and its initial presentation with brown tumors are uncommon. Even more rare is the presentation of both in a young, otherwise healthy female. In this context, it is also important to note that brown tumors can mimic osseous metastases and appropriate biochemical, imaging, and histopathological evaluation is needed. The diagnosis of PC under 40 years of age is uncommon and genetic testing is indicated. Syndromes including multiple endocrine neoplasia type 1, familial isolated hyperparathyroidism, and hyperparathyroidism-jaw tumor syndrome are potential causes of inherited PC. Presentation: 6/3/2024

7191 When Pain Is Misdiagnosed: A Case of Parathyroid Carcinoma Masked as Fibromyalgia

Abstract Disclosure: H. Pham: None. P.V. Kumar: None. S. Taylor: None. Parathyroid carcinoma is a rare and aggressive cause of hyperparathyroidism, typically associated with <1% of primary hyperparathyroidism cases. Incidence occurs mainly in the 5th decade of life, with less than 4% of all cases presenting in patients under age 30. Here, we highlight a case involving a 28-year-old woman with fibromyalgia who presented for worsening right shoulder pain in the setting of progressive, poorly characterized pain for the past year. Her initial physical exam was unremarkable aside from a non-tender left sided neck enlargement. However, her laboratory results were significant for corrected serum calcium of 15 mg/dL, serum phosphorus of 2.3 mg/dL, parathyroid hormone (PTH) >2500 pg/mL, and alkaline phosphatase 1604 units/L. X-ray of her right shoulder demonstrated mottled bone concerning for degenerative disease. Thyroid ultrasound revealed a complex cystic lesion posterior to the left thyroid lobe measuring 5.3 x 3.9 x 2.9 cm, worrisome for giant parathyroid adenoma. CT abdomen/pelvis showed diffuse osteosclerosis and innumerable lytic lesions, consistent with osteitis fibrosa cystica, as well as bilateral nephrolithiasis, likely medullary nephrocalcinosis. Her hypercalcemia was treated with aggressive hydration with normal saline and IV pamidronate. She underwent surgical resection of her parathyroid adenoma, which was unfortunately complicated by symptomatic hypocalcemia requiring prolonged care in the ICU. Her calcium levels did improve within a few days, and she was subsequently discharged with close outpatient follow-up. Final pathology report showed predominant thickened trabecular growth pattern with focal vascular invasion consistent with parathyroid carcinoma. Our patient’s case represents a rare presentation of parathyroid carcinoma in a young patient without any additional risk factors. Although atypical, her severe symptomatic hypercalcemia, nephrolithiasis, presence of large neck mass, and diffuse skeletal disease warranted immediate concern for malignant hyperparathyroidism instead of benign adenoma. Delayed diagnosis in our patient led to prolonged bone disease and severe complications. While hungry bone syndrome typically manifests post-parathyroidectomy in patients with end-stage renal disease, our patient experienced this complication in the setting of advanced, untreated hyperparathyroidism. We should consider hypercalcemia and hyperparathyroidism in our differential diagnosis for chronic pain, especially if pain remains uncontrolled with conservative measures. The most appropriate initial test for evaluation of hypercalcemia is a PTH level to distinguish between PTH-dependent and PTH-independent etiologies. Parathyroid carcinoma, even in young patients, should be considered when PTH is >3x upper limit of normal, serum calcium is >14, or skeletal and renal involvement is present. Presentation: 6/3/2024

Unusual presentation of parathyroid carcinoma

Unusual presentation of parathyroid carcinoma

Cervico-mediastinal hematoma: Atypical presentation of parathyroid carcinoma associated to hashimoto thyroiditis

Cervico-mediastinal hematoma: Atypical presentation of parathyroid carcinoma associated to hashimoto thyroiditis

THU525 Atypical Presentation Of Parathyroid Carcinoma In The Lungs

Abstract Disclosure: J.N. Jacinto: None. O. Reyes: None. M. Cating-Cabral: None. R. Santiago: None. J. Andal: None. A 66-year-old female with a history of parathyroid adenoma underwent partial parathyroidectomy and thyroidectomy of the right lobe in 2006. She has the following comorbidities: pre-diabetes, hypertension, multiple liver cysts, medullary nephrocalcinosis and nephrolithiasis, ureterolithiasis and uterine intramural myoma. She also has a strong familial disposition of endocrine tumors. During the last quarter of 2018, parathyroid hormone and calcium levels were elevated and parathyroid imaging revealed an adenoma on the posteromedial aspect of the left thyroid lobe. Removal of the adenoma was offered but insisted on medical treatment. In 2022, she was admitted for subarachnoid hemorrhage due to fall. There was an incidental finding of a lung mass with minimal pleural effusion on the right lung lobe. PET-scan revealed five FDG-avid nodules (SUV up to 9.6) with the largest in the right middle lobe measuring 2 x 2 x 2 cm. Percutaneous needle biopsy was performed which showed a tumor with fairly uniform cells in organoid nests and solid clusters. By immunohistochemistry (IHC), the tumor cells were diffusely and strongly positive for CK and GATA-3; focally positive for chromogranin and synaptophysin; and negative for TTF-1, Pax-8, and S100. This was signed out as an epithelial tumor with neuroendocrine features; the differential diagnosis includes pulmonary neuroendocrine tumor versus metastasis from the prior parathyroid lesion. She subsequently underwent completion thyroidectomy and video-assisted thoracoscopic surgery. The lung wedge resections both showed tumors with similar morphology and IHC staining pattern as the biopsy. Additional stains were also performed to rule out other entities, which were all negative (CK7, CK20, CD56, mammaglobin, GCDFP-15, TTF-1, S100, ER, Pax-8, HSA, and SALL-4). The Ki-67 proliferation index was 17.26%. Because the overall findings were not definitive, comprehensive genomic profiling by next generation sequencing (NGS) was recommended and subsequently performed. NGS showed gene alteration in CDC73, with a variant allele frequency of 50%; this finding has been documented in parathyroid carcinoma. Pre-operative parathyroid hormone levels remained unchanged (408 to 397 pg/ml) despite surgery. Currently, there is no available targeted therapy to address her genomic alteration. Hyperparathyroidism-jaw tumor syndrome was entertained. The multidisciplinary team advised en-bloc resection of the lung tumor and additional gene testing for family members. She opted for palliative care and is on cinacalcet for her hyperparathyroidism. Presentation: Thursday, June 15, 2023

Parathyroid Cancer—A Rare Finding during Parathyroidectomy in High Volume Surgery Centre

Background and Objectives: Parathyroid cancer is a very rare endocrine tumor, especially in patients with secondary hyperparathyroidism due to end stage renal disease failure. This pathology is difficult to diagnose preoperatively because it has nonspecific clinical manifestations and paraclinical aspects. Our study of the literature identified 34 reported cases of parathyroid carcinoma over the last 40 years in patients undergoing dialysis. We present our experience as illustrative of the features of clinical presentation and histopathological findings of parathyroid carcinoma and assess its management considering the recent relevant literature. Materials and Methods: From January 2012 to November 2022, 650 patients with secondary hyperparathyroidism undergoing dialysis were treated at our academic Department of General Surgery and only two cases of parathyroid carcinoma were diagnosed on histopathological examination. Results: All patients presented with symptomatic hypercalcemia, with no clinical or imaging suspicion of malignant disease and were surgically treated by total parathyroidectomy. Histopathological examination revealed morphologic aspects of parathyroid carcinoma in two cases and immunostaining of Ki-67 was performed for diagnostic confirmation. Postoperative follow-up showed no signs of recurrence and no oncological adjuvant treatment or surgical reinterventions were needed. Conclusions: Parathyroid neoplasia is a particularly rare disease, that remains a challenge when it comes to diagnosis and proper management. Surgical approach is the only valid treatment to remove the malignant tissue and thus improve the patient's prognosis. Medical and oncologic treatment may be beneficial to control hypercalcemia in case of tumor recurrence.

Parathyroid Carcinoma Presenting as Recurrent Primary Hyperparathyroidism and Neck Mass: A Case Report.

Parathyroid carcinoma is a rare endocrine neoplasm that accounts for <1% of cases of primary hyperparathyroidism. The management of parathyroid carcinoma is a challenge due to the high rate of local recurrence of the tumour. We report the case of a middle-aged north Indian woman who presented with recurrent primary hyperparathyroidism due to parathyroid carcinoma. She presented with a recurrent palpable hard neck mass and underwent radical dissection of the neck six times. At the time of writing this report, she was referred for external beam radiotherapy to the neck. Parathyroid carcinoma is a rare malignancy with an indolent but tenacious course. Complete resection at the time of initial surgery determines the prognosis of the neoplasm. Chemotherapy and radiotherapy are usually ineffective. Hypercalcaemia needs to be aggressively managed. A multidisciplinary team is required to effectively manage parathyroid carcinoma.

Unusual presentation and management of parathyroid carcinoma with pulmonary metastasis: a case report

Unusual presentation and management of parathyroid carcinoma with pulmonary metastasis: a case report

Parathyroid Carcinoma – An Uncommon Differential Diagnosis of Pathological Bone Fracture

We present a case of an unusual presentation of parathyroid carcinoma. A women in her 40s presented with pathological fracture without any other symptom. All her investigations pointed towards an abnormally functioning parathyroid gland. The abnormally function parathyroid gland was localised and subsequently the patient underwent surgical removal of the same. The final histopathological diagnosis was that of a parathyroid carcinoma.

RF05 | PSUN364 A Rare Case of Bilateral Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 1

Abstract Background Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder classically characterized by parathyroid gland tumors, anterior pituitary adenomas, and tumors of the gastro-entero-pancreatic tract. The majority of MEN1 cases involving lesions of the parathyroid gland causing hyperparathyroidism are almost always benign. It is extremely rare for hyperparathyroidism to be caused by parathyroid carcinomas. We report a very rare case of parathyroid carcinoma presenting in MEN1 syndrome. Case Report We present the case of a 45 year old male with a history of untreated hypertension, nephrolithiasis, and CKD, who became suddenly unresponsive, was intubated, and found to have a severe acute intraparenchymal hemorrhage secondary to severe hypertension on Head CT. Secondary causes of hypertension were ruled out, with renin activity, aldosterone levels, and urine metanephrines unremarkable; abdominal ultrasound with doppler was also negative for renal artery stenosis. Stroke protocol was initiated, with CTA Head negative for any acute findings. However, CTA Neck showed bilateral large nodules posterior to the thyroid lobes measuring 4.0×3.2 cm on the right and 3.9×2.5 cm on the left, with mass effect on the thyroid and adjacent carotids. Routine labs showed hypercalcemia of 13.3 (8.4-10.2 mg/dL) in the setting of elevated PTH levels of 1085 (15-65 pg/mL), with repeat PTH level of 1106 confirming primary hyperparathyroidism. Other causes of hypercalcemia were investigated, with levels of Calcitonin and Calcitriol/1,25 vitamin D within normal limits, but a decreased level of 25 hydroxy vitamin D of &amp;lt;12.8 (30-100 pg/mL). Maxillofacial CT was negative for any ossifying fibromas, ruling out jaw tumor syndrome. CT Abdomen showed hyperdense nodular areas in the pancreas, and MRI Brain was negative for any discrete pituitary gland lesions. Thyroid US was performed and revealed mixed cystic and solid masses posterior to both lobes of the thyroid; as a result, FNA of the thyroid and posterior mass was done, confirming hypercellular parathyroid tissue and benign thyroid tissue. Due to high suspicion for parathyroid carcinoma, the patient underwent a parathyroidectomy, with pathology confirming bilateral parathyroid carcinoma. Genetic testing was positive for MEN1, with a frameshift variant mutation of c.1299_1312del (p.Val434Leufs*10). Conclusion This is a very rare case of bilateral parathyroid carcinoma presenting in MEN1. To the best of our knowledge, this genetic mutation has not been reported in online databases or published literature. The clinical presentation of parathyroid lesions and pancreatic nodules in the setting of hypercalcemia should prompt further evaluation of genetic disorders such as MEN1. In this context, it is essential that MEN1 patients be managed with a multidisciplinary approach given the disorder's complexity of diagnosis and treatment. Presentation: Saturday, June 11, 2022 1:18 p.m. - 1:23 p.m., Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.

Giant parathyroid tumours in primary hyperparathyroidism: a systematic review.

Giant parathyroid adenoma (GPA) can present with severe biochemical derangement similar to the clinical presentation of parathyroid carcinoma (PC). This study aims to present the current evidence on surgical management of GPAs in primary hyperparathyroidism. A systematic review of the literature on GPAs was conducted following the PRISMA guidelines. Data on clinical, biochemical, preoperative diagnostic, and surgical methods were analysed. Sixty-one eligible studies were included reporting on 65 GPAs in eutopic, ectopic mediastinal, and intrathyroidal locations (61.5%, 30.8%, and 7.7%, respectively). A palpable neck mass was present in 58% of GPAs. A total of 90% of patients had symptoms including fatigue, skeletal pain, pathological fracture, nausea, and abdominal pain. Ninety percent of patients had significant hypercalcaemia (mean 3.51mmol/L; range: 2.59-5.74mmol/L) and hyperparathyroidism with PTH levels on average 14 times above the upper limit of the normal reference. There was no correlation between the reported GPA size and PTH nor between GPA weight and PTH (p = 0.892 and p = 0.363, respectively). Twenty-four percent had a concurrent thyroidectomy for suspicious features, intrathyroidal location of GPA, or large goitre. Immunohistochemistry such as Ki-67, parafibromin, and galectin-3 was used in 18.5% of cases with equivocal histology. Ninety-five percent of GPAs were benign with 5% reported as atypical adenomas. The reported data on GPAs are sparse and heterogeneous. In GPAs with suspicious features for malignancy, en bloc resection with concurrent thyroidectomy may be considered. In the presence of equivocal histological features, ancillary immunohistochemistry is advocated to differentiate GPAs from atypical adenomas and PCs.

A rare presentation of parathyroid carcinoma and brown tumours in a young woman with no associated genetic condition

A rare presentation of parathyroid carcinoma and brown tumours in a young woman with no associated genetic condition

Parathyroid carcinoma presenting as ventricular bigeminy in pregnancy

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

An Unusual Presentation of Parathyroid and Micro Papillary Thyroid Carcinoma

Abstract Background: Parathyroid carcinoma is a rare endocrine malignancy, that usually presents with parathyroid hormone elevations five to ten times higher than normal. It is rarely diagnosed in cases with a normal or mildly elevated PTH. Clinical Case: 68 yo female with history of Hypertension, Spontaneous Vocal Cord Paralysis, Multinodular Goiter, Breast cancer s/p right radical mastectomy/chemotherapy, and Osteoporosis who presented to outpatient Endocrine clinic for hypercalcemia. Medications include Coreg 12.5 mg BID. Patient was asymptomatic. Labs showed BUN 21 mg/dL [8 mg/dL - 27 mg/dL], Creatinine 0.82 mg/dL [0.57 mg/dL - 1 mg/dL], eGFR 74 ml/min/1.73 m2 [nl&amp;gt;59 ml/min/1.73 m2], Calcium 10.8 mg/dL [8.7 mg/dL - 10.3 mg/dL], Phosphorus 3 mg/dL [3 mg/dL - 4.3 mg/dL], Magnesium 2.2 mg/dL [1.6 mg/dL - 2.3 mg/dL], PTH 77 pg/mL [15 pg/mL - 65 pg/mL], Albumin 4.2 g/dL [3.8 g/dL - 4.8 g/dL], Vitamin D 1,25 Dihydroxy 47.2 pg/mL [19.9 pg/mL - 79.3 pg/mL], Vitamin D 25-OH 18.2 ng/mL Low [30 ng/mL - 100 ng/mL], TSH 1.599 uIU/mL (.450-5.330 uIU/mL), Hgb 13.4 g /dL (12.0 -16.0 g/dL). Most recent FNA in 2019 of a dominant thyroid nodule was benign. Bone Density Scan June 2020 showed a T score of -3.4 in the lumbar spine and -3.1 in the left hip. Sestamibi Scan showed a right inferior parathyroid adenoma. Following ENT consultation, patient underwent surgical exploration. Pathology showed parathyroid tissue with extensive fibrosis, consistent with Parathyroid Carcinoma (1.8 x 1 x .7cm), probable positive margins, nodular growth pattern with individual nodules separated by fibrous bands, capsular invasion, focally, into adjacent adipose tissue invading through the thyroid capsule, positive for perineural invasion and PTH. Ki67 approximately six percent. Right thyroid lobe excision should a micro focus of papillary thyroid carcinoma (.2 x .2 cm), capsulated, negative margins, pT1a. Conclusion: This case demonstrated an unusual presentation of Parathyroid carcinoma causing a mild elevation of PTH level that in pathology after excision unexpectedly revealed a right parathyroid carcinoma along with micro papillary thyroid carcinoma.

Mystery Case of Parathyroid Carcinoma Masquerading as a Thyroid Nodule

Introduction: Parathyroid carcinoma is a rare malignancy with a prevalence of 0.005%. Patients typically present with symptoms of hypercalcemia and elevated parathyroid hormone (PTH) levels. Non-functional parathyroid carcinoma presenting with neck pain and normal calcium is a unique and challenging entity. We describe a challenging case of normocalcemic parathyroid carcinoma presenting as neck pain. Case Description: A 59-year old woman with a history of asthma, type 2 diabetes, and tobacco use presented with neck pain and swelling worsening over months. On physical exam, she was noted to have right-sided thyroid mass. CT scan of the neck showed an enlarged thyroid gland with a 1.6 cm nodule with evidence of the trachea’s compression. Subsequent thyroid US revealed a 2.1 cm dominant solid, hypoechoic nodule in the right thyroid lobe. Initial testing revealed normal calcium levels; however, PTH level was not available. FNA of the nodule was non-diagnostic with subsequent repeat FNA interpreted as benign mass. Due to suspicious imaging features and significant neck discomfort, she underwent right hemithyroidectomy. During the surgery, the nodule was noted to be invasive with evidence of extrathyroidal extension. Postoperatively calcium was 8.9 mg/dl (8.6–10.4 mg/dl), ionized calcium 4.7 mg/dl (4.8–5.6mg/dl), PTH 48 pg/mL (14–64 pg/ml), and vitamin D25OH 48 ng/dL (30-100ng/dl). TSH was mildly elevated at 4.59 uIU/ml (0.27–4.2 uIU/ml) with free T4 of 1.09 ng/dl (0.93–1.70ng/dl). The preliminary pathology report described follicular thyroid carcinoma; however, immunostains failed to confirm primary thyroid cancer. The lesion was negative for TTF-1, PAX8, TG, CEA, calcitonin, chromogranin, and synaptophysin. The tumor was strongly positive for GATA3, PTH and positive in nuclear staining for parafibroma. The specimen was evaluated by two pathologists who favored the diagnosis of parathyroid carcinoma. A separate incidental microscopic 4mm papillary thyroid carcinoma (PTC) was found and tested positive for BRAF mutation. Genetic testing for CDC73 was negative. PET scan showed increased uptake in the right thyroid bed. Given microscopic PTC and mildly elevated TSH, she was started on levothyroxine. The patient recovered successfully after the surgery with the resolution of symptoms. She was evaluated by an oncologist, and adjuvant radiation therapy was recommended. Conclusion: Non-functional parathyroid carcinoma is a unique entity, and its diagnosis may be delayed given an atypical presentation and normal endocrine function. Differentiation between nonfunctioning parathyroid carcinoma, parathyroid adenoma, and thyroid disease based on location and proximity to the thyroid may be challenging. Although concomitant thyroid disease is not uncommon, synchronous thyroid cancer is very rare.

Clinical Presentation, Treatment, and Outcome of Parathyroid Carcinoma: Results of the NEKAR Retrospective International Multicenter Study.

In this retrospective cohort study, we describe the clinical presentation and workup of parathyroid carcinoma (PC) and determine its clinical prognostic parameters. Primary outcome was recurrence free survival. PC is an orphan malignancy for which diagnostic workup and treatment is not established. Eighty-three patients were diagnosed with PC between 1986 and 2018. Disease-specific and recurrence-free survivals were estimated with the Kaplan-Meier method. Risk factors for recurrence were identified by binary logistic regression with adjustment for age and sex. Thirty-nine tumors underwent central histopathological review. Renal (39.8%), gastrointestinal (24.1%), bone (22.9%), and psychiatric (19.3%) symptoms were the most common symptoms. Surgical treatment was heterogeneous [parathyroidectomy [PTx)] alone: 22.9%; PTx and hemithyroidectomy: 24.1%; en bloc resection 15.7%; others 37.3%] and complications of surgery were frequent (recurrent laryngeal nerve palsy 25.3%; hypoparathyroidism 6%). Recurrence of PC was observed in 32 of 83 cases. In univariate analysis, rate of recurrence was reduced when extended initial surgery had been performed (P = 0.04). In multivariate analysis low T status [odds ratio (OR) = 2.65, 95% confidence interval (CI) 1.02-6.88, P = 0.045], N0 stage at initial diagnosis (OR = 6.32, 95% CI 1.33-30.01, P = 0.02), Ki-67 <10% (OR = 14.07, 95% CI 2.09-94.9, P = 0.007), and postoperative biochemical remission (OR = 0.023, 95% CI 0.001-0.52, P = 0.018) were beneficial prognostic parameters for recurrence-free survival. Despite a favorable overall prognosis, PC shows high rates of recurrence leading to repeated surgery and postoperative recurrent laryngeal nerve palsy and hypoparathyroidism. In view of the reduced recurrence rate in cases of extended surgery, ipsilateral completion surgery may be considered when PC is confirmed.

MON-920 Pediatric Parathyroid Carcinoma Presenting With Acute Progressive Genu Valgum

BACKGROUND: Parathyroid carcinoma (PC) is exceptionally rare in children and its clinical features are poorly understood. Available reports have identified that very high serum calcium and parathyroid hormone levels would be expected in this disease. Definitive therapy for PC requires en bloc resection of the parathyroid tumor to reduce the risk of disease recurrence. Unfortunately, there are very few treatment options for metastatic PC and patients with recurrent PC have a high risk of mortality related to their disease. Because of the rarity of the condition, there are very limited data including pediatric patients. Case: A previously healthy 13-year-old girl initially presented to primary care with bilateral foot and ankle pain in the context of acute and progressive genu valgum, referred to the orthopedic clinic. Lab evaluation prompted by imaging demonstrated severe hypercalcemia (15.6 mg/dL) and hyperphosphatasia (Alkaline phosphatase 2056 units/L). She was urgently referred to our clinic where we found her to have a firm right sided neck mass within the thyroid. Lab testing at that time confirmed profound hyperparathyroidism (PTH 2970 pg/mL). Neck ultrasound confirmed the presence of a 5.8 cm hypoechoic lesion adjacent to the right lower lobe of the thyroid. The patient received IV fluid resuscitation before undergoing urgent parathyroid surgery. The parathyroid lesion was grossly adherent to the thyroid gland and she received en bloc resection of the tumor and right lobe of the thyroid. Post-operatively, PTH rapidly declined to <3.4 and she developed a prolonged hypocalcemic phase. PTH function improved, but she continued to require high doses of calcium carbonate to address hungry bone syndrome over subsequent weeks. Comprehensive evaluation included testing for genetic mutations, deletions, and duplications in CASR, CDC73, CDKN1B, MEN1 and RET, all of which were negative. Extensive genetic testing of the parathyroid tumor did not identify any specific mutations which have been previously associated with PC. Six months post-operatively, her labs have vastly improved, although she has clinical evidence of PTH resistance and her alkaline phosphatase has not yet normalized. Neck ultrasound, F-18 FDG PET/MRI imaging and Sestamibi scans show no evidence of persistent disease. Conclusions: While parathyroid carcinoma is extremely rare in pediatric patients, the diagnosis must be considered in cases of hypercalcemia with marked elevations in PTH and palpable neck mass. Although rarely described, bone changes related to PC may be dramatic and may result in lasting morbidity - including genu valgum requiring surgical intervention as well as prolonged hungry bone syndrome and metabolic bone disease. Genu valgum is a unique pediatric feature of this disease because this may only evolve in individuals whose physes are open.

Clinical Presentation, Treatment and Outcome of Parathyroid Carcinoma: Results of the NEKAR Retrospective International Multicenter Study

Clinical Presentation, Treatment and Outcome of Parathyroid Carcinoma: Results of the NEKAR Retrospective International Multicenter Study

One case of parathyroid carcinoma presenting as upper abdominal pain

One case of parathyroid carcinoma presenting as upper abdominal pain

Current concepts in parathyroid carcinoma: a single Centre experience

BackgroundParathyroid carcinoma is a rare neoplasm that may present sporadically or in the context of a genetic syndrome. Diagnosis and management are challenging due to the lack of clinical and pathological features that may reliably distinguish malignant from benign disease.MethodsFrom January 2013 to December 2017, from 358 consecutive patients affected by parathyroid diseases, 3 patients with parathyroid carcinoma were treated at our academic Department of General Surgery. We present our experience as illustrative of the different features of clinical presentation of parathyroid carcinoma and review its management considering the recent relevant literature.ResultsCase 1: A 62-year-old man was hospitalized for left-sided palpable neck mass, hypercalcemia and elevated PTH. US-guided FNA was suspect for parathyroid carcinoma. A large cystic mass was excised in bloc with total thyroidectomy and central neck dissection. Genetic studies framed a pathologically confirmed parathyroid carcinoma within MEN1 syndrome. Case 2: A 48-year-old woman with hypothyroidism had total thyroidectomy performed for a suspect for right follicular thyroid lesion. Pathology revealed parathyroid carcinoma. Case 3: A 47 year-old man was admitted for hypercalcaemic crisis and renal failure in the context of PHPT. A lesion suggestive on US and MIBI scan for parathyroid adenoma in the right lower position was removed by mini-invasive approach. Pathology revealed parathyroid cancer and patient had completion hemythyroidectomy and central neck dissection.ConclusionParathyroid cancer is a particularly rare endocrine malignancy, however it should be suspected in patients with primary hyperparathyroidism when severe hypercalcemia is associated to cervical mass, renal and skeletal disease. Parathyroid surgery remains the mainstay of treatment. Radical tumour resection and expedited treatment in a dedicated endocrine Center represent crucial prognostic factors.