A case of co existing paraganglioma and thymoma

A Case Of Co Existing Paraganglioma And Thymoma-Free PDF

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Bano et al SpringerPlus 2015 4 632 Page 2 of 6, diagnostic procedures and surgical removal the diagnosis. of paraganlioma was confirmed She was found to have. an anterior mediastinal mass on a screening MRI and. 5 years later this turned out to be a cortical thymoma. WHO type B2 We also present a brief review the lit. erature regarding the coexisting neck and mediastinal. masses To our knowledge this appears to be only the. second case of paraganglioma associated with thymoma. described in the literature,Subjects and methods,Case history. The patient is a 49 year old lady who initially presented. with right sided earache and right sided neck swelling. Following ear nose and throat ENT assessment surgi Fig 2 Immunohistochemistry of glomus vagale tumour showing. cal excision of the mass together with an adjacent lymph NSE stating in neuroendocrine cells. node was performed At operation the mass was consist. ent with a glomus vagale tumour The histology revealed. organised growth pattern in which tumour cells formed. characteristic nests Zellballen pattern separated by. fibrovascular connective tissue septa The tumour cells. were polygonal with large nuclei many with prominent. nucleoli and plentiful eosinophilic granular cytoplasm. The tumour stained positively for synaptophysin NSE. and chromogranin A No obvious metastatic features, were found The lymph node histology revealed reactive. changes The histology was consistent with paragangli. oma Figs 1 2 Post operatively she suffered the compli. cations of vagal nerve palsy and pulmonary embolism. Five years later she was seen in Genetic Endocrine. clinic and had an ultrasound scan of the neck MRI scan. of the abdomen and thorax as a part of screening for par. aganglioma follow up MRI scan revealed the presence of. a 4 2 cm anterior mediastinal mass Fig 3 This mass. corresponded to the location of the thymus and had cen. Fig 3 Anterior mediastinal mass, tral calcification Review of her previous CT pulmonary. angiogram CTPA done following her neck surgery, 5 years earlier revealed that the mass was eve present.
on this scan This mass had only marginally increased. in size during this time Fig 4 It was decided to man. age it conservatively and follow up with serial MRI scans. She had normal concentrations of urinary fractionated. metanephrines, Two years later her annual scan revealed an increase. in the size of mediastinal mass to 5 8 by 3 1 cm Fig 4. Whole body metaiodobenzylguanidine MIBG scintigra, phy showed no uptake in the mass Fig 5 At this stage. patient had noticed some additional symptoms including. fatigue hoarse voice and dyspnoea She also described. migratory polyarthritis of the small joints Raynaud s. Fig 1 HE stain of paraganglioma,phenomenon and erythema nodosum She was referred. Bano et al SpringerPlus 2015 4 632 Page 3 of 6, multidisciplinary meeting and the decision was made to. operate She underwent median sternotomy and excision. of mediastinal mass The mass was completely excised. The histology showed intermediate sized lymphocytes. with admixed epithelial cells with cytoplasmic processes. Immunohistochemistry revealed the presence of reactive. T lymphocytes TdT CD1a and CD5 positive Fig 6 The, histology was consistent with cortical thymoma WHO.
type B2 She made a good postoperative recovery and. was referred for radiotherapy Patient is currently very. well with no symptoms and 1 year after operation imag. ing investigations are still normal,Genetic testing. Patient signed a written informed consent for the test. Screening for germline mutations of the RET VHL, Fig 4 Increase in the size of mediastinal mass SDHB SDHC SDHD SDHAF2 and TMEM127 was. negative Analysis of the Paraganglioma Phaeochromo. cytoma gene panel was undertaken in the West Mid, lands Regional Genetics Laboratory The panel uses an. to the neurology team to exclude myasthenia gravis in Illumina MiSeq platform to capture the coding regions. view of her mediastinal mass Acetylcholine receptor of the SDHAF2 SDHB SDHC SDHD RET exons 10. antibodies were negative 11 13 16 MAX TMEM127 and VHL genes using the. In view of the enlargement of the mass and con TruSight Cancer Panel target enrichment system v1. stitutional symptoms patient was discussed in a Illumina Sanger sequencing is used to confirm any. Fig 5 MiBG scan no focal uptake in mediastinum,Bano et al SpringerPlus 2015 4 632 Page 4 of 6. Fig 6 a The histology showed HE hematoxylin and eosinophil stained intermediate sized lymphocytes with cytoplamic processes b Immuno. chemistry showing Tdt CD1 and cd5 reactive T lymphocytes. variants identified MLPA analysis of all exons of the epithelium develops first from the third pharyngeal. VHL gene MRC Holland Kit P016 C2 and SDHB C D pouch as two flask shaped endodermal diverticula and. MRC Holland Kit P226 C1 is undertaken extend laterally and backward into the surrounding. mesoderm and neural crest derived mesenchyme The, Discussion mature thymus epithelium has two main cell types cor.
HPGLs overall are rare tumours and are known to have tical thymic epithelial cTECs and medullary thymic. hereditary familial tendency Their association with epithelial cells mTECs or stromal cells These thymic. thymic tumour is not well known To our knowledge thy stromal cells provide signals for T cell differentiation. moma associated with paraganglioma has been reported During the late stages of the development of the thymic. only once before in the literature Refior and Mees epithelium hematopoietic bone marrow precursors. 2000 and we report this second case of HPGL coexist migrate into the thymus After this stage the normal. ing with a thymic tumor in an adult patient Her medi thymic development is dependent on the interaction. astinal tumour was initially growing slowly and she was between the thymic epithelium and the hematopoietic. asymptomatic 5 years after her initial surgery for para thymocytes Farley et al 2013 Tumours of the thymus. ganglioma she developed symptoms suggestive of com are extremely rare and comprise 1 of all adult cancers. pression of anterior mediastinal structures autoimmune Thymoma is a benign tumour but has a malignant poten. pathology and her imaging showed increase in the size tial There are two major types of thymoma depending. of her mediastinal tumour The tumor was presumed to on the neoplastic epithelial cell type In type A thymoma. be benign as there was no metastasis i e lymph node the cells and their nuclei have a spindle or oval shape and. or distant metastases after imaging Our patient had are uniformly bland In type B thymoma the cells have a. extensive biochemical testing The mediastinal mass was predominantly round or polygonal appearance In 50. not MIBG avid and her urinary metanephrines were nor of cases thymoma is detected as an incidental finding. mal Her genetic testing for hereditary paragangliomas on imaging It constitutes about 20 of the mediastinal. has been negative so far For the coexistence of HPGLS tumours so the differential diagnosis includes paragan. and such tumors a common neuroectodermal origin glioma In 95 of cases it presents as an anterior medi. has been proposed as an explanation The hypothesis is astinal mass Thymic tumours occur at almost all ages. supported by combined mixed thymoma neuroendo range 7 89 years with a peak incidence between 55. crine tumours and the occurrence of either thymomas and 65 years There is no pronounced sex predilection. or thymic neuroendocrine tumours in MEN1 syndrome Patients exhibit an increased incidence of second can. patients Rashid and Cassano 2013 cers irrespective of the histology of the thymic epithe. Thymus has an important role in the development of lial tumour The etiology of thymic tumours is largely. an effective immune system as well as endocrine func unknown Some epidemiologic clustering of thymomas. tion Thymus has two main components the lymphoid and neuroendocrine tumours has been observed among. thymocytes and the thymic epithelial cells The thymic patients with multiple endocrine neoplasia MEN1. Bano et al SpringerPlus 2015 4 632 Page 5 of 6, syndrome Epstein Barr virus EBV infection may play The common neuroectodermal origin is thought to be. a role in a minority of thymic carcinoma Symptoms can the reason for coexistence of carotid body tumour and. be due to local complications such as superior vena cava a thymic tumour as in our patient This was proposed in. syndrome pleural or pericardial effusions or patients the first case who presented with bilateral carotid body. may have systemic symptoms such as fever or weight tumor thyroid adenoma and a thymoma Refior and. loss Mikhail et al 2012 In addition thymomas can Mees 2000 Neuroectodermal tumours are part of a fam. cause parathymic syndrome in 40 of cases These syn ily of tumours characterized by genotypic immunophe. dromes are often typical for a specific tumour type and notypic and functional properties of neuroendocrine. may precede or follow thymoma resection Thymomas differentiation Within thymus such tumors comprise. can exhibit a spectrum of autoimmune phenomena com lesions derived from neuroendocrine elements within. prising neuromuscular haematopoietic dermatologic the thymus from paraganglionic rests or from mis. rheumatic vasculitic hepatic and renal diseases These placed embryonal structures within the mediastinum. are more commonly seen in type A and B thymomas as The most common neuroendocrine neoplasm of this. in our patient Myasthenia gravis is more frequently asso anatomic region is the neuroendocrine carcinomas of. ciated with type B thymomas while hypogammaglobuli the thymus which is relatively rare Moran and Suster. naemia Good syndrome and pure red cell aplasia are 2000 Such tumors can often also be the source of hor. more typical for type A thymoma 20 of patients can mone secretion either because of adrenocorticotrophic. have non thymic cancers Thymic carcinomas can occa hormone ACTH secretion by the thymic carcinoid. sionally be associated with syndrome of inappropriate itself or its association with other endocrine neoplasms. secretion of antidiuretic hormone SIADH Carcinoid a These tumors manifest in one of four ways 1 they may. neuroendocrine tumour of the thymus is well reported be asymptomatic found incidentally on routine chest. One third of these patients have Cushings syndrome due radiography 2 they may produce symptoms of thoracic. to ectopic ACTH production 15 of carcinoids can be structure displacement or compression 3 they may pre. associated with multiple endocrine neoplasia MEN sent with symptoms related to an associated endocrinop. syndromes mostly with MEN type 1 and some with MEN athy or 4 they may present with symptoms and signs. type 2 Thymic carcinoid tumours associated with MEN relating to a distant metastasis most commonly to the. syndromes are mostly malignant and can present with liver lung pancreas pleura and bone It has been esti. bony metastasis Kaltsas 2010 mated that over one third of patients are asymptomatic. Recurrent genetic alterations have so far been reported and are incidentally discovered Duh et al 1987 More. for thymomas as well as for thymic squamous cell car rarely the mediastinum also can be the seat of tumors. cinoma Deletions of chromosome 6p are reported with derived from aorticopulmonary or aorticosympathetic. type A thymoma and gains of chromosome 1q and losses paraganglia or from ectopic or supernumerary parathy. of chromosomes 6 and 13q are reported with type B3 roid glands Suster and Moran 2001. thymomas Zettl et al 2000 The treatment options for HNPGLs comprise surgi. Paragangliomas PGLs are found mostly in the neck cal resection as well as irradiation therapy stereotactic. and abdomen less commonly in the pelvic sympathetic radiosurgery and permanent embolization If necessary. plexus of the urinary bladder and rarely in the mediasti combined treatment strategy could be used For carotid. num PGLs may occur sporadically or as part of a heredi body tumours the principal is complete tumor resection. tary syndrome 60 can develop metastatic disease With complete surgical resection the tumor is controlled. indicating that these tumors are often aggressive and locally in 89 100 of cases However there is a possi. need follow up Ghayee et al 2009 Only 2 of PGLs are bility of postoperative cranial nerve dysfunction even in. found in the mediastinum and are associated with germ cases of successful surgical removal of CBT and compli. line mutations in either SDHB or SDHD 30 are asso cation rates are directly related to tumor size Postopera. ciated with elevated catecholamines or metanephrines tively our patient had vagal nerve palsy and patient is left. Multiple endocrine neoplasia type 2 neurofibromato with hoarse voice Boedeker et al 2005. sis type 1 and von Hippel Lindau syndrome are famil Complete surgical excision is the treatment of choice. ial syndromes that predominantly predispose to adrenal for non metastatic thymoma and thymic carcinoma even. pheochromocytomas In our patient metanephrines were when the tumor is locally advanced This is followed by. normal Mutations in the genes encoding succinate dehy postoperative radiotherapy to decrease the incidence of. drogenase SDH subunits B C and D cause extra adre local recurrence In an advanced disease surgical debulk. nal PGLs Other recently identified genes associated with ing radiotherapy and chemotherapy are recommended. A case of co existing paraganglioma and thymoma G Bano1 D Sennik1 M Kenchaiah1 Ye Kyaw 1 Katie Snape2 V Tripathi 2 P Wilson 3 I Vlahos 4 I Hunt5 and S Hodgson2 Abstract Background Head and neck paragangliomas are rare tumours and can arise as a part of inherited syndromes Their association with thymic tumour is not well known

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