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      Hyperfunctioning parathyroid gland and skeletal involvement on [ 18F]fluorocholine PET/CT: one look with two views

      case-report

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          Abstract

          Hyperparathyroidism is an endocrine disorder that may be associated with other metabolic diseases. Non-invasive imaging techniques including [ 99mTc]Tc-sestamibi single-photon emission computed tomography (SPECT) and [ 18F]fluorocholine positron emission tomography (PET)/computed tomography (CT) play a key role on management of patients with hyperparathyroidism. We report for the first time a case of a patient with evidence of both hyperfunctioning parathyroid tissue and multiple lytic bone lesions on [ 18F]fluorocholine PET/CT imaging. The present case report highlights the potential role of whole-body [ 18F]fluorocholine PET/CT for the identification of both parathyroid adenoma and multiple bone lesions in a single diagnostic setting.

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          Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

          L Weinstein, A Shenker, P V Gejman … (1991)
          The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands. These manifestations may be explained by a somatic mutation in affected tissues that results in activation of the signal-transduction pathway generating cyclic AMP (cAMP). We analyzed DNA from tissues of patients with the McCune-Albright syndrome for the presence of activating mutations of the gene for the alpha subunit of the G protein (Gs alpha) that stimulates cAMP formation. Genomic DNA fragments encompassing regions (exons 8 and 9) previously found to contain activating missense mutations of the Gs alpha gene (gsp mutations) in sporadically occurring pituitary tumors were amplified in tissues from four patients with the McCune-Albright syndrome by the polymerase chain reaction. The amplified DNA was analyzed for mutations by denaturing gradient gel electrophoresis and allele-specific oligonucleotide hybridization. We detected one of two activating mutations within exon 8 of the Gs alpha gene in tissues from all four patients, including affected endocrine organs (gonads, adrenal glands, thyroid, and pituitary) and tissues not classically involved in the McCune-Albright syndrome. In two of the patients, histidine was substituted for arginine at position 201 of Gs alpha, and in the other two patients cysteine was substituted for the same arginine residue. In each patient the proportion of cells affected varied from tissue to tissue. In two endocrine organs, the highest proportion of mutant alleles was found in regions of abnormal cell proliferation. Mutations within exon 8 of the Gs alpha gene that result in increased activity of the Gs protein and increased cAMP formation are present in various tissues of patients with the McCune-Albright syndrome. Somatic mutation of this gene early in embryogenesis could result in the mosaic population of normal and mutant-bearing tissues that may underlie the clinical manifestations of this disease.
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            McCune-Albright syndrome

            Claudia Dumitrescu, Michael T Collins (2008)
            McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention. Renal involvement is seen in approximately 50% of the patients with MAS. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. Diagnosis of MAS is usually established on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD and biopsy of FD lesions can confirm the diagnosis. The evaluation of patients with MAS should be guided by knowledge of the spectrum of tissues that may be involved, with specific testing for each. Genetic testing is possible, but is not routinely available. Genetic counseling, however, should be offered. Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm. Treatment is dictated by the tissues affected, and the extent to which they are affected. Generally, some form of surgical intervention is recommended. Bisphosphonates are frequently used in the treatment of FD. Strengthening exercises are recommended to help maintaining the musculature around the FD bone and minimize the risk for fracture. Treatment of all endocrinopathies is required. Malignancies associated with MAS are distinctly rare occurrences. Malignant transformation of FD lesions occurs in probably less than 1% of the cases of MAS.
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              Syndrome Characterized by Osteitis Fibrosa Disseminata, Areas of Pigmentation and Endocrine Dysfunction, with Precocious Puberty in Females

              FULLER ALBRIGHT, Allan M. Butler, Aubrey Hampton … (1937)
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                Author and article information

                Contributors
                Alberto Cuocolo:
                ORCID: http://orcid.org/0000-0003-3431-7658
                cuocolo@unina.it
                Journal
                Journal ID (nlm-ta): Eur J Hybrid Imaging
                Journal ID (iso-abbrev): Eur J Hybrid Imaging
                Title: European Journal of Hybrid Imaging
                Publisher: Springer International Publishing (Cham )
                ISSN (Electronic): 2510-3636
                Publication date (Electronic): 12 December 2022
                Publication date PMC-release: 12 December 2022
                Publication date Collection: December 2022
                Volume: 6
                Electronic Location Identifier: 28
                Affiliations
                [1 ]GRID grid.4691.a, ISNI 0000 0001 0790 385X, Department of Advanced Biomedical Sciences, , University of Naples Federico II, ; Napoli, Italy
                [2 ]GRID grid.4691.a, ISNI 0000 0001 0790 385X, Department of Neuroscience, Reproductive Sciences and Dentistry, , University of Naples Federico II, ; Napoli, Italy
                Author information
                http://orcid.org/0000-0003-3431-7658
                Article
                Publisher ID: 149
                DOI: 10.1186/s41824-022-00149-y
                PMC ID: 9742067
                PubMed ID: 36504377
                SO-VID: d1f4e64a-9951-4a7e-9f2b-ba99e03c1896
                Copyright © © The Author(s) 2022
                License:

                Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

                History
                Date received : 1 August 2022
                Date accepted : 15 September 2022
                Categories
                Subject: Case Report
                Custom metadata
                issue-copyright-statement © The Author(s) 2022

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