A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome

Carola Jose Haven, Fung Ki Wong, Eveline W.C.M. Van Dam, Rob Van Der Luijt, Christi Van Asperen, Joke Jansen, Carla Rosenberg, Mireille De Wit, Janine Roijers, Jo Hoppener, Cornelis J. Lips, Catharina Larsson, Bin Tean Teh, Hans Morreau

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Familial primary hyperparathyroidism is the main feature of 2 familial endocrine neoplasia syndromes: multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT). The latter is a recently described syndrome that has been associated with ossifying fibroma of the jaw and various types of renal lesions, including benign cysts, Wilms' tumor, and hamartomas. To further illustrate the natural history of this syndrome, we describe a large, previously unreported Dutch kindred in which 13 affected members presented with either parathyroid adenoma or carcinoma; in 5 affected individuals, cystic kidney disease was found. Additionally, pancreatic adenocarcinoma, renal cortical adenoma, papillary renal cell carcinoma, testicular mixed germcell tumor with major seminoma component, and Hürthle cell thyroid adenoma were also identified. Linkage analysis of the family using MEN1-linked mic rosatellite markers and mutation analysis excluded the involvement of the MEN1 gene. Using markers from the HPT-JT region in 1q25-31, cosegregation with the disease was found, with a maximum logarithm of odds score of 2.41 obtained for 6 markers using the most conservative calculation. Meiotic telomeric recombination between D1S413 and D1S477 was identified in 3 affected individuals, and when combined with previous reports, delineated the HPT-JT region to 14 centimorgan. Combined comparative genomic hybridization and loss of heterozygosity data revealed complex genetic abnormalities in the tumors, suggesting different possible genetic mechanisms for the disease. In conclusion, we report a family with hyperparathyroidism linked to chromosome 1q, and exhibiting several types of renal and endocrine tumors that have not been previously described.

Original languageEnglish
Pages (from-to)1449-1454
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume85
Issue number4
DOIs
Publication statusPublished - 1 Dec 2000

Cite this

Haven, Carola Jose ; Wong, Fung Ki ; Van Dam, Eveline W.C.M. ; Van Der Luijt, Rob ; Van Asperen, Christi ; Jansen, Joke ; Rosenberg, Carla ; De Wit, Mireille ; Roijers, Janine ; Hoppener, Jo ; Lips, Cornelis J. ; Larsson, Catharina ; Teh, Bin Tean ; Morreau, Hans. / A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. In: Journal of Clinical Endocrinology and Metabolism. 2000 ; Vol. 85, No. 4. pp. 1449-1454.
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title = "A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome",
abstract = "Familial primary hyperparathyroidism is the main feature of 2 familial endocrine neoplasia syndromes: multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT). The latter is a recently described syndrome that has been associated with ossifying fibroma of the jaw and various types of renal lesions, including benign cysts, Wilms' tumor, and hamartomas. To further illustrate the natural history of this syndrome, we describe a large, previously unreported Dutch kindred in which 13 affected members presented with either parathyroid adenoma or carcinoma; in 5 affected individuals, cystic kidney disease was found. Additionally, pancreatic adenocarcinoma, renal cortical adenoma, papillary renal cell carcinoma, testicular mixed germcell tumor with major seminoma component, and H{\"u}rthle cell thyroid adenoma were also identified. Linkage analysis of the family using MEN1-linked mic rosatellite markers and mutation analysis excluded the involvement of the MEN1 gene. Using markers from the HPT-JT region in 1q25-31, cosegregation with the disease was found, with a maximum logarithm of odds score of 2.41 obtained for 6 markers using the most conservative calculation. Meiotic telomeric recombination between D1S413 and D1S477 was identified in 3 affected individuals, and when combined with previous reports, delineated the HPT-JT region to 14 centimorgan. Combined comparative genomic hybridization and loss of heterozygosity data revealed complex genetic abnormalities in the tumors, suggesting different possible genetic mechanisms for the disease. In conclusion, we report a family with hyperparathyroidism linked to chromosome 1q, and exhibiting several types of renal and endocrine tumors that have not been previously described.",
author = "Haven, {Carola Jose} and Wong, {Fung Ki} and {Van Dam}, {Eveline W.C.M.} and {Van Der Luijt}, Rob and {Van Asperen}, Christi and Joke Jansen and Carla Rosenberg and {De Wit}, Mireille and Janine Roijers and Jo Hoppener and Lips, {Cornelis J.} and Catharina Larsson and Teh, {Bin Tean} and Hans Morreau",
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doi = "10.1210/jc.85.4.1449",
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Haven, CJ, Wong, FK, Van Dam, EWCM, Van Der Luijt, R, Van Asperen, C, Jansen, J, Rosenberg, C, De Wit, M, Roijers, J, Hoppener, J, Lips, CJ, Larsson, C, Teh, BT & Morreau, H 2000, 'A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome' Journal of Clinical Endocrinology and Metabolism, vol. 85, no. 4, pp. 1449-1454. https://doi.org/10.1210/jc.85.4.1449

A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. / Haven, Carola Jose; Wong, Fung Ki; Van Dam, Eveline W.C.M.; Van Der Luijt, Rob; Van Asperen, Christi; Jansen, Joke; Rosenberg, Carla; De Wit, Mireille; Roijers, Janine; Hoppener, Jo; Lips, Cornelis J.; Larsson, Catharina; Teh, Bin Tean; Morreau, Hans.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 85, No. 4, 01.12.2000, p. 1449-1454.

Research output: Contribution to journalArticleAcademicpeer-review

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T1 - A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome

AU - Haven, Carola Jose

AU - Wong, Fung Ki

AU - Van Dam, Eveline W.C.M.

AU - Van Der Luijt, Rob

AU - Van Asperen, Christi

AU - Jansen, Joke

AU - Rosenberg, Carla

AU - De Wit, Mireille

AU - Roijers, Janine

AU - Hoppener, Jo

AU - Lips, Cornelis J.

AU - Larsson, Catharina

AU - Teh, Bin Tean

AU - Morreau, Hans

PY - 2000/12/1

Y1 - 2000/12/1

N2 - Familial primary hyperparathyroidism is the main feature of 2 familial endocrine neoplasia syndromes: multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT). The latter is a recently described syndrome that has been associated with ossifying fibroma of the jaw and various types of renal lesions, including benign cysts, Wilms' tumor, and hamartomas. To further illustrate the natural history of this syndrome, we describe a large, previously unreported Dutch kindred in which 13 affected members presented with either parathyroid adenoma or carcinoma; in 5 affected individuals, cystic kidney disease was found. Additionally, pancreatic adenocarcinoma, renal cortical adenoma, papillary renal cell carcinoma, testicular mixed germcell tumor with major seminoma component, and Hürthle cell thyroid adenoma were also identified. Linkage analysis of the family using MEN1-linked mic rosatellite markers and mutation analysis excluded the involvement of the MEN1 gene. Using markers from the HPT-JT region in 1q25-31, cosegregation with the disease was found, with a maximum logarithm of odds score of 2.41 obtained for 6 markers using the most conservative calculation. Meiotic telomeric recombination between D1S413 and D1S477 was identified in 3 affected individuals, and when combined with previous reports, delineated the HPT-JT region to 14 centimorgan. Combined comparative genomic hybridization and loss of heterozygosity data revealed complex genetic abnormalities in the tumors, suggesting different possible genetic mechanisms for the disease. In conclusion, we report a family with hyperparathyroidism linked to chromosome 1q, and exhibiting several types of renal and endocrine tumors that have not been previously described.

AB - Familial primary hyperparathyroidism is the main feature of 2 familial endocrine neoplasia syndromes: multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT). The latter is a recently described syndrome that has been associated with ossifying fibroma of the jaw and various types of renal lesions, including benign cysts, Wilms' tumor, and hamartomas. To further illustrate the natural history of this syndrome, we describe a large, previously unreported Dutch kindred in which 13 affected members presented with either parathyroid adenoma or carcinoma; in 5 affected individuals, cystic kidney disease was found. Additionally, pancreatic adenocarcinoma, renal cortical adenoma, papillary renal cell carcinoma, testicular mixed germcell tumor with major seminoma component, and Hürthle cell thyroid adenoma were also identified. Linkage analysis of the family using MEN1-linked mic rosatellite markers and mutation analysis excluded the involvement of the MEN1 gene. Using markers from the HPT-JT region in 1q25-31, cosegregation with the disease was found, with a maximum logarithm of odds score of 2.41 obtained for 6 markers using the most conservative calculation. Meiotic telomeric recombination between D1S413 and D1S477 was identified in 3 affected individuals, and when combined with previous reports, delineated the HPT-JT region to 14 centimorgan. Combined comparative genomic hybridization and loss of heterozygosity data revealed complex genetic abnormalities in the tumors, suggesting different possible genetic mechanisms for the disease. In conclusion, we report a family with hyperparathyroidism linked to chromosome 1q, and exhibiting several types of renal and endocrine tumors that have not been previously described.

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