Literature DB >> 28748250

[Disseminated osteolytic lesions in a 28-year-old refugee].

T Karrasch1, H D Walmrath2, M Kampschulte3, D Steiner4, W Seeger2, W Padberg5, U Sibelius6, S Gattenlöhner7, A Schäffler8.   

Abstract

A 28-year-old Syrian refugee presented with right-sided knee pain and progressive deterioration of the general condition over the past months. Laboratory diagnostics revealed severe hypercalcemia due to primary hyperparathyroidism, and computed tomography (CT) scanning demonstrated disseminated osteolytic lesions throughout the skeleton. Histologically, these lesions were characterized by multinuclear giant cells (defining these lesions as so-called brown tumors). Finally, surgical removal of a jugular mass allowed the histopathologic diagnosis of a sporadic parathyroid carcinoma. In the patient, this condition was associated with a mutation in the HPRT2 gene locus.

Entities:  

Keywords:  Giant cells; HRPT2 gene; Hyperparathyroidism; Osteolysis; Parathyroid neoplasm

Mesh:

Year:  2018        PMID: 28748250     DOI: 10.1007/s00108-017-0300-6

Source DB:  PubMed          Journal:  Internist (Berl)        ISSN: 0020-9554            Impact factor:   0.743


  10 in total

Review 1.  Clinical review 122: Parathyroid carcinoma.

Authors:  E Shane
Journal:  J Clin Endocrinol Metab       Date:  2001-02       Impact factor: 5.958

Review 2.  Parathyroid carcinoma: a review.

Authors:  Randall P Owen; Carl E Silver; Phillip K Pellitteri; Ashok R Shaha; Kenneth O Devaney; Jochen A Werner; Alessandra Rinaldo; Alfio Ferlito
Journal:  Head Neck       Date:  2011-03       Impact factor: 3.147

Review 3.  Parathyroid pathology: hyperparathyroidism and parathyroid tumors.

Authors:  Diane Carlson
Journal:  Arch Pathol Lab Med       Date:  2010-11       Impact factor: 5.534

4.  Trends in the incidence and treatment of parathyroid cancer in the United States.

Authors:  Peter K Lee; Stephanie L Jarosek; Beth A Virnig; Maria Evasovich; Todd M Tuttle
Journal:  Cancer       Date:  2007-05-01       Impact factor: 6.860

5.  HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Authors:  J D Carpten; C M Robbins; A Villablanca; L Forsberg; S Presciuttini; J Bailey-Wilson; W F Simonds; E M Gillanders; A M Kennedy; J D Chen; S K Agarwal; R Sood; M P Jones; T Y Moses; C Haven; D Petillo; P D Leotlela; B Harding; D Cameron; A A Pannett; A Höög; H Heath; L A James-Newton; B Robinson; R J Zarbo; B M Cavaco; W Wassif; N D Perrier; I B Rosen; U Kristoffersson; P D Turnpenny; L-O Farnebo; G M Besser; C E Jackson; H Morreau; J M Trent; R V Thakker; S J Marx; B T Teh; C Larsson; M R Hobbs
Journal:  Nat Genet       Date:  2002-11-18       Impact factor: 38.330

Review 6.  Clinical and molecular genetics of parathyroid neoplasms.

Authors:  John M Sharretts; William F Simonds
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2010-06       Impact factor: 4.690

7.  Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.

Authors:  Filomena Cetani; Elena Pardi; Simona Borsari; Paolo Viacava; Giada Dipollina; Luisella Cianferotti; Elena Ambrogini; Elisabetta Gazzerro; Giacomo Colussi; Piero Berti; Paolo Miccoli; Aldo Pinchera; Claudio Marcocci
Journal:  J Clin Endocrinol Metab       Date:  2004-11       Impact factor: 5.958

8.  HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.

Authors:  V M Howell; C J Haven; K Kahnoski; S K Khoo; D Petillo; J Chen; G J Fleuren; B G Robinson; L W Delbridge; J Philips; A E Nelson; U Krause; K Hammje; H Dralle; C Hoang-Vu; O Gimm; D J Marsh; H Morreau; B T Teh
Journal:  J Med Genet       Date:  2003-09       Impact factor: 6.318

9.  Hyperparathyroidism-jaw tumour syndrome.

Authors:  J D Chen; C Morrison; C Zhang; K Kahnoski; J D Carpten; B T Teh
Journal:  J Intern Med       Date:  2003-06       Impact factor: 8.989

10.  Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

Authors:  Trisha M Shattuck; Stiina Välimäki; Takao Obara; Randall D Gaz; Orlo H Clark; Dolores Shoback; Margaret E Wierman; Katsuyoshi Tojo; Christiane M Robbins; John D Carpten; Lars-Ove Farnebo; Catharina Larsson; Andrew Arnold
Journal:  N Engl J Med       Date:  2003-10-30       Impact factor: 91.245

  10 in total

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