Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses

Endocrine Pathology

Volumn 22, Issue 1, 2011, Pages 44-52

  Cavaco, Branca Maria ^a,b   Santos, Rita ^a   Félix, Ana ^a,b   Carvalho, Davide ^c,d   Lopes, José Manuel ^c,d,e   Domingues, Rita ^a,b   Sirgado, Marta ^a   Rei, Nádia ^a   Fonseca, Fernando ^f   Santos, Jorge Rosa ^a   Sobrinho, Luís ^a   Leite, Valeriano ^a,b  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^b NOVA MEDICAL SCHOOL   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

^d University of Porto   (Portugal)

^e UNIVERSITY OF PORTO   (Portugal)

^f HOSPITAL CURRY CABRAL   (Portugal)

Author keywords

De novo mutation; HRPT2 gene; Hyperparathyroidism jaw tumor syndrome (HPT JT); Parafibromin; Parathyroid carcinoma; Tumor seeding

Indexed keywords

CALCITRIOL; CALCIUM; CINACALCET; PARAFIBROMIN; PARATHYROID HORMONE; PROTEIN HRPT2; TUMOR PROTEIN; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG; VITAMIN D; ZOLEDRONIC ACID;

ADULT; ARTICLE; BONE DISEASE; BONE SCINTISCANNING; CALCIUM INTAKE; CANCER GROWTH; CANCER RECURRENCE; CASE REPORT; CERVICAL SPINE RADIOGRAPHY; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; ECHOGRAPHY; FEMALE; GENE IDENTIFICATION; GENETIC COUNSELING; GERM LINE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUNGRY BONE SYNDROME; HYPERCALCEMIA; HYPERPARATHYROIDISM JAW TUMOR SYNDROME; IMMUNOHISTOCHEMISTRY; INTENSITY MODULATED RADIATION THERAPY; LOW BACK PAIN; MUTATIONAL ANALYSIS; NECK DISSECTION; OSTEOPENIA; OSTEOPOROSIS; PARATHYROID ADENOMA; PARATHYROID CARCINOMA; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROID TUMOR; PARATHYROIDECTOMY; POSTOPERATIVE COMPLICATION; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; SOMATIC MUTATION; TUMOR CELL; TUMOR DIAGNOSIS; TUMOR SEEDING; TUMOR SUPPRESSOR GENE;

ADENOCARCINOMA; ADULT; COMBINED MODALITY THERAPY; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GERM-LINE MUTATION; HUMANS; PARATHYROID NEOPLASMS; TREATMENT OUTCOME; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 79953284330     PISSN: 10463976     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12022-011-9151-1     Document Type: Article

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