Περίληψη:
Background The prevention of medullary thyroid cancer in patients with
multiple endocrine neoplasia type 2 syndrome has demonstrated the
ability of molecular diagnosis and prophylactic surgery to improve
patient outcomes. However, the other major neoplasia associated with
multiple endocrine neoplasia type 2, phaeochromocytoma, is not as well
characterised in terms of occurrence and treatment outcomes. In this
study, we aimed to systematically characterise the outcomes of
management of phaeochromocytoma associated with multiple endocrine
neoplasia type 2.
Methods This multinational observational retrospective population-based
study compiled data on patients with multiple endocrine neoplasia type 2
from 30 academic medical centres across Europe, the Americas, and Asia.
Patients were included if they were carriers of germline pathogenic
mutations of the RET gene, or were first-degree relatives with
histologically proven medullary thyroid cancer and phaeochromocytoma. We
gathered clinical information about patients’ RET genotype, type of
treatment for phaeochromocytoma (ie, unilateral or bilateral operations
as adrenalectomy or adrenal-sparing surgery, and as open or endoscopic
operations), and postoperative outcomes (adrenal function, malignancy,
and death). The type of surgery was decided by each investigator and the
timing of surgery was patient driven. The primary aim of our analysis
was to compare disease-free survival after either adrenal-sparing
surgery or adrenalectomy.
Findings 1210 patients with multiple endocrine neoplasia type 2 were
included in our database, 563 of whom had phaeochromocytoma. Treatment
was adrenalectomy in 438 (79%) of 552 operated patients, and
adrenal-sparing surgery in 114 (21%). Phaeochromocytoma recurrence
occurred in four (3%) of 153 of the operated glands after
adrenal-sparing surgery after 6-13 years, compared with 11 (2%) of 717
glands operated by adrenalectomy (p=0.57). Postoperative adrenal
insufficiency or steroid dependency developed in 292 (86%) of 339
patients with bilateral phaeochromocytoma who underwent surgery.
However, 47 (57%) of 82 patients with bilateral phaeochromocytoma who
underwent adrenal-sparing surgery did not become steroid dependent.
Interpretation The treatment of multiple endocrine neoplasia type
2-related phaeochromocytoma continues to rely on adrenalectomies with
their associated Addisonian-like complications and consequent lifelong
dependency on steroids. Adrenal-sparing surgery, a highly successful
treatment option in experienced centres, should be the surgical approach
of choice to reduce these complications.
Συγγραφείς:
Castinetti, Frederic
Qi, Xiao-Ping
Walz, Martin K.
Maia, Ana
Luiza
Sanso, Gabriela
Peczkowska, Mariola
Hasse-Lazar,
Kornelia
Links, Thera P.
Dvorakova, Sarka
Toledo, Rodrigo A.
and Mian, Caterina
Bugalho, Maria Joao
Wohllk, Nelson and
Kollyukh, Oleg
Canu, Letizia
Loli, Paola
Bergmann, Simona R.
and Costa, Josefina Biarnes
Makay, Ozer
Patocs, Attila and
Pfeifer, Marija
Shah, Nalini S.
Cuny, Thomas
Brauckhoff,
Michael
Bausch, Birke
von Dobschuetz, Ernst
Letizia, Claudio
and Barczynski, Marcin
Alevizaki, Maria K.
Czetwertynska,
Malgorzata
Ugurlu, M. Umit
Valk, Gerlof
Plukker, John T. M.
and Sartorato, Paola
Siqueira, Debora R.
Barontini, Marta and
Szperl, Malgorzata
Jarzab, Barbara
Verbeek, Hans H. G. and
Zelinka, Tomas
Vlcek, Petr
Toledo, Sergio P. A.
Coutinho,
Flavia L.
Mannelli, Massimo
Recasens, Monica
Demarquet, Lea
and Petramala, Luigi
Yaremchuk, Svetlana
Zabolotnyi, Dmitry and
Schiavi, Francesca
Opocher, Giuseppe
Racz, Karoly and
Januszewicz, Andrzej
Weryha, Georges
Henry, Jean-Francois and
Brue, Thierry
Conte-Devolx, Bernard
Eng, Charis
Neumann,
Hartmut P. H.
