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XXII CONGRESSO NAZIONALE S.I.FI.PA.C

XXII CONGRESSO NAZIONALE S.I.FI.PA.C. Parafibromin expression, single-gland involvement and limited parathyroidectomy in Familial Isolated Hyperparathyroidism. Iacobone M., Ciarleglio F.A., Viel G., Bottussi M., Tropea S., Citton M., Kertusha X., Frego M., Favia G. Endocrine Surgery Unit

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XXII CONGRESSO NAZIONALE S.I.FI.PA.C

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  1. XXII CONGRESSO NAZIONALE S.I.FI.PA.C Parafibromin expression, single-gland involvement and limited parathyroidectomy in Familial Isolated Hyperparathyroidism Iacobone M., Ciarleglio F.A., Viel G., Bottussi M., Tropea S., Citton M., Kertusha X., Frego M., Favia G. Endocrine Surgery Unit University of Padua, Italy Sabato 4 aprile 2009

  2. PRIMARY HPT Isolated HPT (non-MEN) MEN 1 MEN 2A Sporadic HPT (90%) Familial HPT (<10%) HPT-JT

  3. HPT-JT Autosomal Dominant, variable expression Associated Tumors: • Renal (0-70%) • Uterine (40%) • … • Hyperparathyroidism (100%) (Parathyroid carcinoma:15%) • (Extensive Parathyroidectomy) • Jaw- Tumor (10-25%):ossifying fibrous Jaw-Tumors

  4. HPT-JT Parathyroid Carcinoma

  5. HPT-JT Ossifying Fibrous Jaw-Tumors

  6. HPT-JT Renal Tumors

  7. HPT-JT Inactivating Mutations HRPT2 Cromosome 1q31.2 PARAFIBROMIN Parathyroid tumors CELLULAR PROLIFERATION

  8. HPT-JT Syndrome Endocrine Surgery University of Padua > 100 subjects (38 studied) 16 affected patients 5 healthy mutation carriers

  9. HPT-JT Syndrome Endocrine Surgery University of Padua

  10. K A K B K C HPT-JT Syndrome • HPT: mean age 37 yrs (range 11-71) • HPT (> 20 yrs): 94% • PC: 6% • Uniglandular Involvement: 77% • Metachronous MGD: 23% (DFI: 14 ys, range 4-27) • Jaw-Tumor: (1 pt) • Uterine Tumors (67%) • Papillary Thyroid Carcinoma (2 pts) • Colon Carcinoma (1 pt) • Renal Cancer (1 pt)

  11. HPT-JT Syndrome Single Gland Involvement 100% Pathology 1 Parathyroid Carcinoma 17 Single Adenomas (3 recurrent)

  12. HPT-JT Syndrome Recurrent HPT 27 years 4 years 9 years Single Gland Involvement (3 Single Adenomas) Disease Free 12 years 3 years 10 years

  13. HPT-JT Syndrome HRPT2 Germinal Mutations • c.433_442delinsAGA (exon 6) Kindred A • c.188T>C (Leu63Pro)Kindred B • c.(136_144)del5 (exon 2) Kindred C

  14. HPT-JT Syndrome Parafibromin expression (immunohistochemistry) HPT-JT Normal Gland PARAFIBROMIN POSITIVE HPT-JT Adenoma PARAFIBROMIN NEGATIVE

  15. HPT-JT H R P T 2 H R P T 2 Germ-line mutation (inherited) Acquired mutation PARAFIBROMIN Parathyroid and Associated tumors Normal Parathyroid Carpten, 2002

  16. Parafibromin expression (immunohistochemistry) Uterine Tumors Sporadic uterine tumor (Endometrial polyp) PARAFIBROMIN POSITIVE HRPT2 related uterine tumor (Endometrial polyp) PARAFIBROMIN NEGATIVE

  17. Conclusions • HRPT2 related HPT • Autosomal Dominant • Variable expression • High (incomplete) penetrance • HPT: 37 yrs • Uniglandular involvement (Selective Parathyroidectomy) • Risk of Parathyroid Carcinoma (<10%) • Associated Tumors (Uterine, etc)

  18. Test Frequency Parathyroid Ca++, PTH, 24 hours U-Ca, Ultrasonography 6-12 months Jaw Tumor Panoramic jaw X-ray with neck shielding 5 years Kidney Abdominal MRI 5 years Uterine Ultrasonography (transvaginal) 5 years Thyroid Ultrasonography (eventually FNAC) Annual Colon Colonscopy 5 years (after 40 ys) Other? Conclusions • Multidisciplinary WORK UP

  19. Thank you Sigillum of the University of Padua, 1222 A.C.

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