Pulmonary ossifying carcinoid & #8211; MEN in a male ?
P Vaideeswar, M Bhuvan, N GoelJournal of Postgraduate Medicine 2022 68(1):44-47 Pulmonary carcinoid tumors are considered as low-grade neoplasms, seen as centrally located endobronchial masses or as peripheral circumscribed nodules. Calcification or ossification is a known phenomenon, but presentation as large bony mass is extremely uncommon. Herein, we report a case of ossifying bronchial carcinoid along with nodular Hashimoto's thyroiditis as incidental autopsy findings in a 32-year-old patient with a prior recent excision of pituitary macroadenoma. This association suggests the possibility of multiple endocrine neo...
Source: Journal of Postgraduate Medicine - January 21, 2022 Category: Internal Medicine Authors: P Vaideeswar M Bhuvan N Goel Source Type: research

Metastatic Patterns of Duodenopancreatic Neuroendocrine Tumors in Patients With Multiple Endocrine Neoplasia Type 1
In conclusion, for patients with MEN1-related hypergastrinemia and PanNETs, a duodenal origin of periduodenopancreatic lymph node metastases should be considered, even when current conventional and functional imaging studies do not reveal duodenal tumors preoperatively. (Source: The American Journal of Surgical Pathology)
Source: The American Journal of Surgical Pathology - January 18, 2022 Category: Pathology Tags: Original Articles Source Type: research

Multiple endocrine neoplasia type 1 or 4: detection of hyperfunctioning parathyroid glands with 18F-fluorocholine PET/CT, illustrative cases and pitfalls
CONCLUSIONS: FCH PET/CT has a positive benefit/risk ratio in the detection of HFPTG in case of MEN1 (the data in MEN4 being currently very limited) with the most effective detection rate of current imaging modalities for HFPTG, few pitfalls, and an adequate impact on patient management compared to sestaMIBI SPECT and ultrasonography.PMID:35005879 | DOI:10.23736/S1824-4785.22.03440-9 (Source: Molecular Medicine)
Source: Molecular Medicine - January 10, 2022 Category: Molecular Biology Authors: Jean-No ël Talbot Jules Zhang-Yin Khadoun Kerrou Cyrielle Aveline Benedicte Vagne Oph élie Bélissant Marc Tassart Sophie P érié Phillipe Bouchard Sophie C Maitre Fabrice M énégaux Lionel Groussin S ébastien Gaujoux Sona Balogova Fran çoise Montra Source Type: research

Multiple endocrine neoplasia type 1 or 4: detection of hyperfunctioning parathyroid glands with 18F-fluorocholine PET/CT, illustrative cases and pitfalls
CONCLUSIONS: FCH PET/CT has a positive benefit/risk ratio in the detection of HFPTG in case of MEN1 (the data in MEN4 being currently very limited) with the most effective detection rate of current imaging modalities for HFPTG, few pitfalls, and an adequate impact on patient management compared to sestaMIBI SPECT and ultrasonography.PMID:35005879 | DOI:10.23736/S1824-4785.22.03440-9 (Source: Quarterly Journal of Nuclear Medicine and Molecular Imaging)
Source: Quarterly Journal of Nuclear Medicine and Molecular Imaging - January 10, 2022 Category: Nuclear Medicine Authors: Jean-No ël Talbot Jules Zhang-Yin Khadoun Kerrou Cyrielle Aveline Benedicte Vagne Oph élie Bélissant Marc Tassart Sophie P érié Phillipe Bouchard Sophie C Maitre Fabrice M énégaux Lionel Groussin S ébastien Gaujoux Sona Balogova Fran çoise Montra Source Type: research

Aggressive prolactinoma (Review)
Exp Ther Med. 2022 Jan;23(1):74. doi: 10.3892/etm.2021.10997. Epub 2021 Nov 24.ABSTRACTAggressive prolactinoma (APRL) is a subgroup of aggressive pituitary tumors (accounting for 10% of all hypophyseal neoplasia) which are defined by: invasion based on radiological and/or histological features, a higher proliferation profile when compared to typical adenomas and rapidly developing resistance to standard medication/protocols in addition to an increased risk of early recurrence. This is a narrative review focusing on APRL in terms of both presentation and management. Upon admission, the suggestive features may include increa...
Source: Experimental and Therapeutic Medicine - December 22, 2021 Category: General Medicine Authors: Ana Valea Florica Sandru Aida Petca Mihai Cristian Dumitrascu Mara Carsote Razvan-Cosmin Petca Adina Ghemigian Source Type: research

Evaluation of risk factors, long-term outcomes, and immediate and delayed autotransplantation to minimize postsurgical hypoparathyroidism in multiple endocrine neoplasia type 1 (MEN1): A retrospective cohort study
Postoperative hypoparathyroidism from inadequate parathyroid hormone is of concern after multigland resections in multiple endocrine neoplasia type 1 –related primary hyperparathyroidism. We evaluated risk factors, long-term outcomes, and roles of autotransplantation and cryopreservation in postoperative hypoparathyroidism in multiple endocrine neoplasia type 1. (Source: Surgery)
Source: Surgery - December 21, 2021 Category: Surgery Authors: Jace P. Landry, Carolina R.C. Pieterman, Uriel Clemente-Gutierrez, Elizabeth G. Grubbs, Sarah B. Fisher, Paul H. Graham, Steven G. Waguespack, Nancy D. Perrier Source Type: research

Synchronous Parathyroidectomy and Extended Thymectomy in Multiple Endocrine Neoplasia Type 1
Ann Thorac Surg. 2021 Dec 15:S0003-4975(21)02052-X. doi: 10.1016/j.athoracsur.2021.10.065. Online ahead of print.ABSTRACTA 49-year-old male was investigated for symptoms of hypercalcaemia which had been present for 3 months. An initial chest X-ray showed a large anterior mediastinal mass. Subsequent computed tomography (CT) scans also demonstrated a calcified lesion in the uncinate process of the pancreas, and a neck ultrasound showed parathyroid lesions. Given the combination of symptoms and tumours, this raised the possibility of multiple endocrine neoplasia type 1 (MEN-1) as the diagnosis. The lesions were later biopsy-...
Source: The Annals of Thoracic Surgery - December 18, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Dean P Robinson Alexander E P Smith Andrea Bille Ricard Simo Source Type: research

Secretin stimulation test and early diagnosis of gastrinoma in MEN1 syndrome: Survey on the MEN1 Florentine database
CONCLUSIONS: Diagnosis of gastrinoma is complex, difficult and controversial. Results of this study confirm that a positive secretin stimulation test allows early diagnosis of gastrinomas, even in the presence of borderline or normal levels of non-stimulated FSG.PMID:34922358 | DOI:10.1210/clinem/dgab903 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - December 18, 2021 Category: Endocrinology Authors: Francesca Giusti Federica Cioppi Caterina Fossi Francesca Marini Laura Masi Francesco Tonelli Maria Luisa Brandi Source Type: research

Synchronous Parathyroidectomy and Extended Thymectomy in Multiple Endocrine Neoplasia Type 1
Ann Thorac Surg. 2021 Dec 15:S0003-4975(21)02052-X. doi: 10.1016/j.athoracsur.2021.10.065. Online ahead of print.ABSTRACTA 49-year-old male was investigated for symptoms of hypercalcaemia which had been present for 3 months. An initial chest X-ray showed a large anterior mediastinal mass. Subsequent computed tomography (CT) scans also demonstrated a calcified lesion in the uncinate process of the pancreas, and a neck ultrasound showed parathyroid lesions. Given the combination of symptoms and tumours, this raised the possibility of multiple endocrine neoplasia type 1 (MEN-1) as the diagnosis. The lesions were later biopsy-...
Source: The Annals of Thoracic Surgery - December 18, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Dean P Robinson Alexander E P Smith Andrea Bille Ricard Simo Source Type: research

Secretin stimulation test and early diagnosis of gastrinoma in MEN1 syndrome: Survey on the MEN1 Florentine database
CONCLUSIONS: Diagnosis of gastrinoma is complex, difficult and controversial. Results of this study confirm that a positive secretin stimulation test allows early diagnosis of gastrinomas, even in the presence of borderline or normal levels of non-stimulated FSG.PMID:34922358 | DOI:10.1210/clinem/dgab903 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - December 18, 2021 Category: Endocrinology Authors: Francesca Giusti Federica Cioppi Caterina Fossi Francesca Marini Laura Masi Francesco Tonelli Maria Luisa Brandi Source Type: research

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2)
CONCLUSIONS: We suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.PMID:34905813 | DOI:10.3904/kjim.2021.311 (Source: The Korean Journal of Internal Medicine)
Source: The Korean Journal of Internal Medicine - December 14, 2021 Category: Internal Medicine Authors: Ji-Young Lee Su Yeon Kim Kwan Hoon Jo Eun Yeong Mo Eun Sook Kim Hye Soo Kim Je Ho Han Sung-Dae Moon Source Type: research

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2)
CONCLUSIONS: We suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.PMID:34905813 | DOI:10.3904/kjim.2021.311 (Source: The Korean Journal of Internal Medicine)
Source: The Korean Journal of Internal Medicine - December 14, 2021 Category: Internal Medicine Authors: Ji-Young Lee Su Yeon Kim Kwan Hoon Jo Eun Yeong Mo Eun Sook Kim Hye Soo Kim Je Ho Han Sung-Dae Moon Source Type: research

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2)
CONCLUSIONS: We suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.PMID:34905813 | DOI:10.3904/kjim.2021.311 (Source: The Korean Journal of Internal Medicine)
Source: The Korean Journal of Internal Medicine - December 14, 2021 Category: Internal Medicine Authors: Ji-Young Lee Su Yeon Kim Kwan Hoon Jo Eun Yeong Mo Eun Sook Kim Hye Soo Kim Je Ho Han Sung-Dae Moon Source Type: research

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2)
CONCLUSIONS: We suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.PMID:34905813 | DOI:10.3904/kjim.2021.311 (Source: The Korean Journal of Internal Medicine)
Source: The Korean Journal of Internal Medicine - December 14, 2021 Category: Internal Medicine Authors: Ji-Young Lee Su Yeon Kim Kwan Hoon Jo Eun Yeong Mo Eun Sook Kim Hye Soo Kim Je Ho Han Sung-Dae Moon Source Type: research

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2)
CONCLUSIONS: We suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.PMID:34905813 | DOI:10.3904/kjim.2021.311 (Source: The Korean Journal of Internal Medicine)
Source: The Korean Journal of Internal Medicine - December 14, 2021 Category: Internal Medicine Authors: Ji-Young Lee Su Yeon Kim Kwan Hoon Jo Eun Yeong Mo Eun Sook Kim Hye Soo Kim Je Ho Han Sung-Dae Moon Source Type: research

Non-invasive prenatal diagnosis of a paternally inherited MEN1 pathogenic splicing variant
CONCLUSION: We showed that functional genetic analysis can help to assess the pathogenicity of a MEN1 variant with crucial consequences for medical care and genetic counselling decisions.PMID:34897474 | DOI:10.1210/clinem/dgab894 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - December 13, 2021 Category: Endocrinology Authors: Thomas Huby Edouard Le Guillou Cyril Burin des Roziers Laurence Pacot Audrey Briand-Suleau Albain Chansavang Aur élie Toussaint V éronique Duchossoy Nicolas Vaucouleur Virginie Benoit Laurence Lod é Cl émence Molac Marie-Odile North Sarah Grotto Vassi Source Type: research

Non-invasive prenatal diagnosis of a paternally inherited MEN1 pathogenic splicing variant
CONCLUSION: We showed that functional genetic analysis can help to assess the pathogenicity of a MEN1 variant with crucial consequences for medical care and genetic counselling decisions.PMID:34897474 | DOI:10.1210/clinem/dgab894 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - December 13, 2021 Category: Endocrinology Authors: Thomas Huby Edouard Le Guillou Cyril Burin des Roziers Laurence Pacot Audrey Briand-Suleau Albain Chansavang Aur élie Toussaint V éronique Duchossoy Nicolas Vaucouleur Virginie Benoit Laurence Lod é Cl émence Molac Marie-Odile North Sarah Grotto Vassi Source Type: research

Effect of Surgeon Volume on Pediatric Thyroid Surgery Outcomes: A Systematic Review
While less common than for adults, children undergo total or partial thyroidectomy for a variety of indications including nodules, malignancy, Graves ’ disease, thyroid goiter, and multiple endocrine neoplasia syndromes [1,2]. Pediatric patients with thyroid malignancy more commonly present with metastatic and advanced disease compared to adults [3–5]. Furthermore, pediatric patients undergoing thyroidectomy have been reported to incur higher rates of operative complications than adult patients [6–10]. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - December 10, 2021 Category: Surgery Authors: Sydney L Olson, Martha-Conley E Ingram, Peter M Graffy, Peggy M Murphy, Yao Tian, Jill H Samis, Jami L Josefson, Jeffery C. Rastatter, Mehul V Raval Source Type: research

Four cases of medullary thyroid carcinomas associated with multiple endocrine neoplasia 2B with rearranged during transfection codon M918T mutation in the same family
Mol Clin Oncol. 2022 Jan;16(1):13. doi: 10.3892/mco.2021.2450. Epub 2021 Nov 21.ABSTRACTMultiple endocrine neoplasia (MEN) with medullary thyroid carcinoma (MTC) is associated with rearranged during transfection (RET) mutations. The authors encountered four cases of MTC-related MEN type 2B (MEN2B) with RET codon M918T mutation in one family. Case 1 included a 19 year-old male diagnosed with MTC with lung metastases. Genetic testing revealed an RET codon M918T mutation, which indicated MEN2B. The patient responded partially to vandetanib and the disease has shown no progression in 25 months. Case 2 involved the mother of th...
Source: Clinical Lung Cancer - December 9, 2021 Category: Cancer & Oncology Authors: Akihisa Tanaka Hirokazu Uemura Chihiro Morimoto Ari Nishimura Yumi Yoshii Takashi Masui Ichiro Ota Tadashi Kitahara Source Type: research

Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study
AbstractObjectiveTo compare clinical, biochemical, tumoural and mutational characteristics of Von Hippel Lindau Syndrome (VHL)-associated pheochromocytoma (PCC) to multiple endocrine neoplasia 2A (MEN2A)-associated pheochromocytoma.DesignRetrospective study design in a tertiary health care centre in Northern India.MethodsA total of 47 patients with biochemical and histologically proven pheochromocytoma/paraganglioma (PCC/PGL): 29 associated with VHL and 18 with MEN2A, were divided in two cohorts, respectively. Analysis of their medical records along with a prospective follow-up was done.ResultsThere were more children  
Source: World Journal of Surgery - December 2, 2021 Category: Surgery Source Type: research

Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2
In conclusion, our findings do not support a pathogenic role of the Leu56Met variant in MEN 2. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - December 1, 2021 Category: Endocrinology Source Type: research

Hirschsprung Disease
Hirschsprung disease (HSCR) is a congenital disorder of intestinal motility affecting approximately 1 in 5,000 live births, with a 4:1 male predominance. No single underlying cause has been identified, with both sporadic and familial cases reported. Most often HSCR is an isolated finding, but 20% of cases are associated with a chromosomal abnormality or with other congenital anomalies of the cardiac, genitourinary, gastrointestinal, and/or nervous systems. Also, a variety of syndromes pose an increased risk of HSCR, including Down syndrome, multiple endocrine neoplasia type IIA, and congenital hypoventilation syndrome, amo...
Source: Pediatrics in Review - December 1, 2021 Category: Pediatrics Source Type: research

Effects of Parathyroidectomy on Normocalcemic Primary Hyperparathyroidism and the Role of Intraoperative PTH Measurement
Am Surg. 2021 Nov 14:31348211048844. doi: 10.1177/00031348211048844. Online ahead of print.ABSTRACTBACKGROUND: Normocalcemic primary hyperparathyroidism (NCpHPT) and normohormonal primary hyperparathyroidism (NHpHPT) are recently recognized variants of primary hyperparathyroidism. Current guidelines for the management hyperparathyroidism recognize NCpHPT as one of the areas that are recommended for more research due to limited available data.METHODS: A retrospective review of patients who had parathyroidectomy between 2014 and 2019. We excluded patients with multiple endocrine neoplasia syndromes and secondary and tertiary...
Source: The American Surgeon - November 15, 2021 Category: Surgery Authors: Ehab Alameer Mahmoud Omar Marcus Hoof Hosam Shalaby Mohamed Abdelgawad Ghassan Zora Mohamed Shama Emad Kandil Source Type: research

Effects of Parathyroidectomy on Normocalcemic Primary Hyperparathyroidism and the Role of Intraoperative PTH Measurement
Am Surg. 2021 Nov 14:31348211048844. doi: 10.1177/00031348211048844. Online ahead of print.ABSTRACTBACKGROUND: Normocalcemic primary hyperparathyroidism (NCpHPT) and normohormonal primary hyperparathyroidism (NHpHPT) are recently recognized variants of primary hyperparathyroidism. Current guidelines for the management hyperparathyroidism recognize NCpHPT as one of the areas that are recommended for more research due to limited available data.METHODS: A retrospective review of patients who had parathyroidectomy between 2014 and 2019. We excluded patients with multiple endocrine neoplasia syndromes and secondary and tertiary...
Source: The American Surgeon - November 15, 2021 Category: Surgery Authors: Ehab Alameer Mahmoud Omar Marcus Hoof Hosam Shalaby Mohamed Abdelgawad Ghassan Zora Mohamed Shama Emad Kandil Source Type: research

Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A
To the best of our knowledge, we report a case of MEN2A complicated by moyamoya syndrome. A 52-year-old woman presented with vertigo. Magnetic resonance angiography (MRA) revealed bilateral supraclinoid stenosis of the internal carotid artery and abnormal moyamoya-like vessels around the basal ganglia. She had a heterozygous variant of RNF213, which is the susceptibility gene for moyamoya disease. She had also previously received diagnoses of medullary thyroid carcinoma (MTC) at age 23 and left-sided pheochromocytoma (PHEO) at age 41. Genetic testing revealed heterozygosity for a mutation at codon 634 in exon 11 (TGC-TTC m...
Source: Frontiers in Endocrinology - November 11, 2021 Category: Endocrinology Source Type: research

Cancers, Vol. 13, Pages 5554: Active Surveillance in RET Gene Carriers Belonging to Families with Multiple Endocrine Neoplasia
In conclusion, we demonstrated that an active surveillance pursuing an early thyroid surgery could be safely recommended in GCs. This patient-centered approach permits postponing thyroid surgery in children until their adolescence/adulthood. At the same time, we confirmed that genetic screening allows finding hidden MTC cases that otherwise would be diagnosed much later. (Source: Cancers)
Source: Cancers - November 5, 2021 Category: Cancer & Oncology Authors: Alessandro Prete Antonio Matrone Carla Gambale Valeria Bottici Virginia Cappagli Cristina Romei Liborio Torregrossa Laura Valerio Elisa Minaldi Maria Cristina Campopiano Loredana Lorusso Laura Agate Eleonora Molinaro David Viola Teresa Ramone Chiara Mul Tags: Article Source Type: research

Long-term follow-up of a case of MEN1 and literature review
CONCLUSION: MEN1 is an uncommon condition in clinical settings, and it is important that clinicians be made aware of this disorder so that they can provide patients with appropriate and timely treatments.PMID:34713690 (Source: Neuroendocrinology Letters)
Source: Neuroendocrinology Letters - October 29, 2021 Category: Endocrinology Authors: Qian Xu Cancan Hui Lele Hou Pingping Zheng Yating Lu Datong Deng Source Type: research