Clinical characterization of familial isolated pituitary adenomas

A. F. Daly, M. L. Jaffrain-Rea, A. Ciccarelli, H. Valdes-Socin, V. Rohmer, G. Tamburrano, C. Borson-Chazot, B. Estour, E. Ciccarelli, T. Brue, P. Ferolla, P. Emy, A. Colao, E. De Menis, P. Lecomte, F. Penfornis, B. Delemer, J. Bertherat, J. L. Wémeau, W. De Herder & 6 others F. Archambeaud, A. Stevenaert, A. Calender, A. Murat, F. Cavagnini, A. Beckers

Research output: Contribution to journalArticle

149 Citations (Scopus)

Abstract

Context: Familial pituitary adenomas occur rarely in the absence of multiple endocrine neoplasia type 1(MEN1)and Carney complex (CNC). Objective: Our objective was to characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA). Design and Setting: We conducted a retrospective study of clinical and genealogical characteristics of FIPA cases and performed a comparison with a sporadic population at 22 university hospitals in Belgium, Italy, France, and The Netherlands. Results: Sixty-four FIPA families including 138 affected individuals were identified [55 prolactinomas, 47 somatotropinomas, 28 nonsecreting adenomas (NS), and eight ACTH-secreting tumors]. Cases were MEN1/PRKAR1A-mutation negative. First-degree relationships predominated (75.6%) among affected individuals. A single tumor phenotype occurred in 30 families (homogeneous), and heterogeneous phenotypes occurred in 34 families. FIPA cases were younger at diagnosis than sporadic cases (P = 0.015); tumors were diagnosed earlier in the first vs. the second generation of multigenerational families. Macroadenomas were more frequent in heterogeneous vs. homogeneous FIPA families (P = 0.036). Prolactinomas from heterogeneous families were larger and had more frequent suprasellar extension (P = 0.004) than sporadic cases. Somatotropinomas occurred as isolated familial somatotropinoma cases and within heterogeneous FIPA families; isolated familial somatotropinoma cases represented 18% of FIPA cases and were younger at diagnosis than patients with sporadic somatotropinomas. Familial NS cases were younger at diagnosis (P = 0.03) and had more frequently invasive tumors (P = 0.024) than sporadic cases. Conclusions: Homogeneous and heterogeneous expression of prolactinomas, somatotropinomas, NS, and Cushing's disease can occur within families in the absence of MEN1/CNC. FIPA and sporadic cases have differing clinical characteristics. FIPA may represent a novel endocrine neoplasia classification that requires further genetic characterization.

Original languageEnglish
Pages (from-to)3316-3323
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Volume91
Issue number9
DOIs
Publication statusPublished - 2006

Fingerprint

Tumors
Carney Complex
Multiple Endocrine Neoplasia Type 1
Prolactinoma
Growth Hormone-Secreting Pituitary Adenoma
Adenoma
Neoplasms
Adrenocorticotropic Hormone
Phenotype
Familial Isolated Pituitary Adenoma
Pituitary ACTH Hypersecretion
Belgium
Pituitary Neoplasms
Netherlands
Italy
France
Retrospective Studies
Mutation
Population

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Daly, A. F., Jaffrain-Rea, M. L., Ciccarelli, A., Valdes-Socin, H., Rohmer, V., Tamburrano, G., ... Beckers, A. (2006). Clinical characterization of familial isolated pituitary adenomas. Journal of Clinical Endocrinology and Metabolism, 91(9), 3316-3323. https://doi.org/10.1210/jc.2005-2671

Clinical characterization of familial isolated pituitary adenomas. / Daly, A. F.; Jaffrain-Rea, M. L.; Ciccarelli, A.; Valdes-Socin, H.; Rohmer, V.; Tamburrano, G.; Borson-Chazot, C.; Estour, B.; Ciccarelli, E.; Brue, T.; Ferolla, P.; Emy, P.; Colao, A.; De Menis, E.; Lecomte, P.; Penfornis, F.; Delemer, B.; Bertherat, J.; Wémeau, J. L.; De Herder, W.; Archambeaud, F.; Stevenaert, A.; Calender, A.; Murat, A.; Cavagnini, F.; Beckers, A.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 91, No. 9, 2006, p. 3316-3323.

Research output: Contribution to journalArticle

Daly, AF, Jaffrain-Rea, ML, Ciccarelli, A, Valdes-Socin, H, Rohmer, V, Tamburrano, G, Borson-Chazot, C, Estour, B, Ciccarelli, E, Brue, T, Ferolla, P, Emy, P, Colao, A, De Menis, E, Lecomte, P, Penfornis, F, Delemer, B, Bertherat, J, Wémeau, JL, De Herder, W, Archambeaud, F, Stevenaert, A, Calender, A, Murat, A, Cavagnini, F & Beckers, A 2006, 'Clinical characterization of familial isolated pituitary adenomas', Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 9, pp. 3316-3323. https://doi.org/10.1210/jc.2005-2671
Daly AF, Jaffrain-Rea ML, Ciccarelli A, Valdes-Socin H, Rohmer V, Tamburrano G et al. Clinical characterization of familial isolated pituitary adenomas. Journal of Clinical Endocrinology and Metabolism. 2006;91(9):3316-3323. https://doi.org/10.1210/jc.2005-2671
Daly, A. F. ; Jaffrain-Rea, M. L. ; Ciccarelli, A. ; Valdes-Socin, H. ; Rohmer, V. ; Tamburrano, G. ; Borson-Chazot, C. ; Estour, B. ; Ciccarelli, E. ; Brue, T. ; Ferolla, P. ; Emy, P. ; Colao, A. ; De Menis, E. ; Lecomte, P. ; Penfornis, F. ; Delemer, B. ; Bertherat, J. ; Wémeau, J. L. ; De Herder, W. ; Archambeaud, F. ; Stevenaert, A. ; Calender, A. ; Murat, A. ; Cavagnini, F. ; Beckers, A. / Clinical characterization of familial isolated pituitary adenomas. In: Journal of Clinical Endocrinology and Metabolism. 2006 ; Vol. 91, No. 9. pp. 3316-3323.
@article{746886b7f1084c22bcff817094a9cbdc,
title = "Clinical characterization of familial isolated pituitary adenomas",
abstract = "Context: Familial pituitary adenomas occur rarely in the absence of multiple endocrine neoplasia type 1(MEN1)and Carney complex (CNC). Objective: Our objective was to characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA). Design and Setting: We conducted a retrospective study of clinical and genealogical characteristics of FIPA cases and performed a comparison with a sporadic population at 22 university hospitals in Belgium, Italy, France, and The Netherlands. Results: Sixty-four FIPA families including 138 affected individuals were identified [55 prolactinomas, 47 somatotropinomas, 28 nonsecreting adenomas (NS), and eight ACTH-secreting tumors]. Cases were MEN1/PRKAR1A-mutation negative. First-degree relationships predominated (75.6{\%}) among affected individuals. A single tumor phenotype occurred in 30 families (homogeneous), and heterogeneous phenotypes occurred in 34 families. FIPA cases were younger at diagnosis than sporadic cases (P = 0.015); tumors were diagnosed earlier in the first vs. the second generation of multigenerational families. Macroadenomas were more frequent in heterogeneous vs. homogeneous FIPA families (P = 0.036). Prolactinomas from heterogeneous families were larger and had more frequent suprasellar extension (P = 0.004) than sporadic cases. Somatotropinomas occurred as isolated familial somatotropinoma cases and within heterogeneous FIPA families; isolated familial somatotropinoma cases represented 18{\%} of FIPA cases and were younger at diagnosis than patients with sporadic somatotropinomas. Familial NS cases were younger at diagnosis (P = 0.03) and had more frequently invasive tumors (P = 0.024) than sporadic cases. Conclusions: Homogeneous and heterogeneous expression of prolactinomas, somatotropinomas, NS, and Cushing's disease can occur within families in the absence of MEN1/CNC. FIPA and sporadic cases have differing clinical characteristics. FIPA may represent a novel endocrine neoplasia classification that requires further genetic characterization.",
author = "Daly, {A. F.} and Jaffrain-Rea, {M. L.} and A. Ciccarelli and H. Valdes-Socin and V. Rohmer and G. Tamburrano and C. Borson-Chazot and B. Estour and E. Ciccarelli and T. Brue and P. Ferolla and P. Emy and A. Colao and {De Menis}, E. and P. Lecomte and F. Penfornis and B. Delemer and J. Bertherat and W{\'e}meau, {J. L.} and {De Herder}, W. and F. Archambeaud and A. Stevenaert and A. Calender and A. Murat and F. Cavagnini and A. Beckers",
year = "2006",
doi = "10.1210/jc.2005-2671",
language = "English",
volume = "91",
pages = "3316--3323",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "9",

}

TY - JOUR

T1 - Clinical characterization of familial isolated pituitary adenomas

AU - Daly, A. F.

AU - Jaffrain-Rea, M. L.

AU - Ciccarelli, A.

AU - Valdes-Socin, H.

AU - Rohmer, V.

AU - Tamburrano, G.

AU - Borson-Chazot, C.

AU - Estour, B.

AU - Ciccarelli, E.

AU - Brue, T.

AU - Ferolla, P.

AU - Emy, P.

AU - Colao, A.

AU - De Menis, E.

AU - Lecomte, P.

AU - Penfornis, F.

AU - Delemer, B.

AU - Bertherat, J.

AU - Wémeau, J. L.

AU - De Herder, W.

AU - Archambeaud, F.

AU - Stevenaert, A.

AU - Calender, A.

AU - Murat, A.

AU - Cavagnini, F.

AU - Beckers, A.

PY - 2006

Y1 - 2006

N2 - Context: Familial pituitary adenomas occur rarely in the absence of multiple endocrine neoplasia type 1(MEN1)and Carney complex (CNC). Objective: Our objective was to characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA). Design and Setting: We conducted a retrospective study of clinical and genealogical characteristics of FIPA cases and performed a comparison with a sporadic population at 22 university hospitals in Belgium, Italy, France, and The Netherlands. Results: Sixty-four FIPA families including 138 affected individuals were identified [55 prolactinomas, 47 somatotropinomas, 28 nonsecreting adenomas (NS), and eight ACTH-secreting tumors]. Cases were MEN1/PRKAR1A-mutation negative. First-degree relationships predominated (75.6%) among affected individuals. A single tumor phenotype occurred in 30 families (homogeneous), and heterogeneous phenotypes occurred in 34 families. FIPA cases were younger at diagnosis than sporadic cases (P = 0.015); tumors were diagnosed earlier in the first vs. the second generation of multigenerational families. Macroadenomas were more frequent in heterogeneous vs. homogeneous FIPA families (P = 0.036). Prolactinomas from heterogeneous families were larger and had more frequent suprasellar extension (P = 0.004) than sporadic cases. Somatotropinomas occurred as isolated familial somatotropinoma cases and within heterogeneous FIPA families; isolated familial somatotropinoma cases represented 18% of FIPA cases and were younger at diagnosis than patients with sporadic somatotropinomas. Familial NS cases were younger at diagnosis (P = 0.03) and had more frequently invasive tumors (P = 0.024) than sporadic cases. Conclusions: Homogeneous and heterogeneous expression of prolactinomas, somatotropinomas, NS, and Cushing's disease can occur within families in the absence of MEN1/CNC. FIPA and sporadic cases have differing clinical characteristics. FIPA may represent a novel endocrine neoplasia classification that requires further genetic characterization.

AB - Context: Familial pituitary adenomas occur rarely in the absence of multiple endocrine neoplasia type 1(MEN1)and Carney complex (CNC). Objective: Our objective was to characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA). Design and Setting: We conducted a retrospective study of clinical and genealogical characteristics of FIPA cases and performed a comparison with a sporadic population at 22 university hospitals in Belgium, Italy, France, and The Netherlands. Results: Sixty-four FIPA families including 138 affected individuals were identified [55 prolactinomas, 47 somatotropinomas, 28 nonsecreting adenomas (NS), and eight ACTH-secreting tumors]. Cases were MEN1/PRKAR1A-mutation negative. First-degree relationships predominated (75.6%) among affected individuals. A single tumor phenotype occurred in 30 families (homogeneous), and heterogeneous phenotypes occurred in 34 families. FIPA cases were younger at diagnosis than sporadic cases (P = 0.015); tumors were diagnosed earlier in the first vs. the second generation of multigenerational families. Macroadenomas were more frequent in heterogeneous vs. homogeneous FIPA families (P = 0.036). Prolactinomas from heterogeneous families were larger and had more frequent suprasellar extension (P = 0.004) than sporadic cases. Somatotropinomas occurred as isolated familial somatotropinoma cases and within heterogeneous FIPA families; isolated familial somatotropinoma cases represented 18% of FIPA cases and were younger at diagnosis than patients with sporadic somatotropinomas. Familial NS cases were younger at diagnosis (P = 0.03) and had more frequently invasive tumors (P = 0.024) than sporadic cases. Conclusions: Homogeneous and heterogeneous expression of prolactinomas, somatotropinomas, NS, and Cushing's disease can occur within families in the absence of MEN1/CNC. FIPA and sporadic cases have differing clinical characteristics. FIPA may represent a novel endocrine neoplasia classification that requires further genetic characterization.

UR - http://www.scopus.com/inward/record.url?scp=33748742372&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748742372&partnerID=8YFLogxK

U2 - 10.1210/jc.2005-2671

DO - 10.1210/jc.2005-2671

M3 - Article

VL - 91

SP - 3316

EP - 3323

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 9

ER -