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Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

2011-03Journal article Open access
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dc.contributor.authorCavaco, B
dc.contributor.authorSantos, R
dc.contributor.authorFélix, A
dc.contributor.authorCarvalho, D
dc.contributor.authorLopes, JM
dc.contributor.authorDomingues, R
dc.contributor.authorSirgado, M
dc.contributor.authorRei, N
dc.contributor.authorFonseca, F
dc.contributor.authorSantos, J
dc.contributor.authorSobrinho, L
dc.contributor.authorLeite, V
dc.date.accessioned2016-05-05T12:35:08Z
dc.date.available2016-05-05T12:35:08Z
dc.date.issued2011-03
dc.description.abstractThe diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sporadic malignant parathyroid tumors, initially diagnosed as adenomas. In one case, the differential diagnosis was complicated by cervical seeding of parathyroid tumor cells. Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients. Furthermore, the identification of somatic mutations in the patients‟ parathyroid tumors provided evidence for complete inactivation of the HRPT2 gene, which was consistent with the tumor malignant features. The sensitivity of parafibromin immunostaining to detect HRPT2 mutations was limited. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations. Establishing the diagnosis of hereditary HPT-JT syndrome is relevant for clinical counseling and management of the carriers and their relatives.pt_PT
dc.identifier.citationEndocr Pathol. 2011 Mar;22(1):44-52pt_PT
dc.identifier.doi10.1007/s12022-011-9151-1pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2467
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Verlagpt_PT
dc.subjectHCC ENDpt_PT
dc.subjectAdenocarcinoma/diagnosispt_PT
dc.subjectAdenocarcinoma/geneticspt_PT
dc.subjectAdenocarcinoma/therapypt_PT
dc.subjectCombined Modality Therapypt_PT
dc.subjectDNA Mutational Analysispt_PT
dc.subjectDNA, Neoplasm/analysispt_PT
dc.subjectGerm-Line Mutationpt_PT
dc.subjectParathyroid Neoplasms/diagnosispt_PT
dc.subjectParathyroid Neoplasms/geneticspt_PT
dc.subjectParathyroid Neoplasms/therapypt_PT
dc.subjectTreatment Outcomept_PT
dc.subjectTumor Suppressor Proteins/geneticspt_PT
dc.titleIdentification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnosespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage52pt_PT
oaire.citation.startPage44pt_PT
oaire.citation.titleEndocrine Pathologypt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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