Multiple endocrine neoplasia type 4: a new member of the MEN family
Objective Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one per million. The aim of this study was to define the disease characteristics. Methods A systematic review was performed according to the PRI...
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| Published in | Endocrine Connections Vol. 12; no. 2; pp. 1 - 11 |
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| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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England
Bioscientifica Ltd
01.02.2023
Bioscientifica |
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| Abstract | Objective Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one per million. The aim of this study was to define the disease characteristics. Methods A systematic review was performed according to the PRISMA 2020 criteria. A literature search from January 2006 to August 2022 was done using MEDLINE® and Web of ScienceTM. Results Forty-eight symptomatic patients fulfilled the pre-defined eligibility criteria. Twenty-eight different CDKN1B variants, mostly missense (21/48, 44%) and frameshift mutations (17/48, 35%), were reported. The majority of patients were women (36/48, 75%). Men became symptomatic at a median age of 32.5 years (range 10–68, mean 33.7 ± 23), whereas the same event was recorded for women at a median age of 49.5 years (range 5–76, mean 44.8 ± 19.9) (P = 0.25). The most frequently affected endocrine organ was the parathyroid gland (36/48, 75%; uniglandular disease 31/36, 86%), followed by the pituitary gland (21/48, 44%; hormone-secreting 16/21, 76%), the endocrine pancreas (7/48, 15%), and the thyroid gland (4/48, 8%). Tumors of the adrenal glands and thymus were found in three and two patients, respectively. The presenting first endocrine pathology concerned the parathyroid (27/48, 56%) and the pituitary gland (11/48, 23%). There were one (27/48, 56%), two (13/48, 27%), three (3/48, 6%), or four (5/48, 10%) syn- or metachronously affected endocrine organs in a single patient, respectively. Conclusion MEN4 is an extremely rare disease, which most frequently affects women around 50 years of age. Primary hyperparathyroidism as a uniglandular disease is the leading pathology. |
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| AbstractList | Objective: Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is le ss than one per million. The aim of this study was to define the disease characteristics. Methods: A systematic review was performed according to the PRISMA 2020 criteria. A literature search from January 2006 to August 2022 was done using MEDLINE® and Web of ScienceTM. Results: Forty-eight symptomatic patients fulfilled the pre-defined eligi bility criteria. Twenty-eight different CDKN1B variants, mostly missense (21/48, 44%) and frameshift mutations (17/48, 35%), were reported. The majority of patients were women (36/48, 75%). Men became symptomatic at a median age of 32.5 years (ran ge 10–68, mean 33.7 ± 23), whereas the same event was recorded for women at a media n age of 49.5 years (range 5–76, mean 44.8 ± 19.9) (P = 0.25). The most frequently affected endocrine organ was the parathyroid gland (36/48, 75%; uniglandular disease 31/36, 86%), followed by the pituitary gland (21/48, 44%; hormone-secreting 16/21, 76%), the endocrine pancreas (7/48, 15%), and the thyroid gland (4/48, 8%). Tumors of the ad renal glands and thymus were found in three and two patients, respectively. The present ing first endocrine pathology concerned the parathyroid (27/48, 56%) and the pituit ary gland (11/48, 23%). There were one (27/48, 56%), two (13/48, 27%), three (3/48, 6%), or four (5/48, 10%) syn-or metachronously affected endocrine organs in a single patient, respectively. Conclusion: MEN4 is an extremely rare disease, which most frequently affect s women around 50 years of age. Primary hyperparathyroidism as a unigla ndular disease is the leading pathology. Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one per million. The aim of this study was to define the disease characteristics. A systematic review was performed according to the PRISMA 2020 criteria. A literature search from January 2006 to August 2022 was done using MEDLINE® and Web of ScienceTM. Forty-eight symptomatic patients fulfilled the pre-defined eligibility criteria. Twenty-eight different CDKN1B variants, mostly missense (21/48, 44%) and frameshift mutations (17/48, 35%), were reported. The majority of patients were women (36/48, 75%). Men became symptomatic at a median age of 32.5 years (range 10-68, mean 33.7 ± 23), whereas the same event was recorded for women at a median age of 49.5 years (range 5-76, mean 44.8 ± 19.9) (P = 0.25). The most frequently affected endocrine organ was the parathyroid gland (36/48, 75%; uniglandular disease 31/36, 86%), followed by the pituitary gland (21/48, 44%; hormone-secreting 16/21, 76%), the endocrine pancreas (7/48, 15%), and the thyroid gland (4/48, 8%). Tumors of the adrenal glands and thymus were found in three and two patients, respectively. The presenting first endocrine pathology concerned the parathyroid (27/48, 56%) and the pituitary gland (11/48, 23%). There were one (27/48, 56%), two (13/48, 27%), three (3/48, 6%), or four (5/48, 10%) syn- or metachronously affected endocrine organs in a single patient, respectively. MEN4 is an extremely rare disease, which most frequently affects women around 50 years of age. Primary hyperparathyroidism as a uniglandular disease is the leading pathology. Objective Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one per million. The aim of this study was to define the disease characteristics. Methods A systematic review was performed according to the PRISMA 2020 criteria. A literature search from January 2006 to August 2022 was done using MEDLINE® and Web of ScienceTM. Results Forty-eight symptomatic patients fulfilled the pre-defined eligibility criteria. Twenty-eight different CDKN1B variants, mostly missense (21/48, 44%) and frameshift mutations (17/48, 35%), were reported. The majority of patients were women (36/48, 75%). Men became symptomatic at a median age of 32.5 years (range 10–68, mean 33.7 ± 23), whereas the same event was recorded for women at a median age of 49.5 years (range 5–76, mean 44.8 ± 19.9) (P = 0.25). The most frequently affected endocrine organ was the parathyroid gland (36/48, 75%; uniglandular disease 31/36, 86%), followed by the pituitary gland (21/48, 44%; hormone-secreting 16/21, 76%), the endocrine pancreas (7/48, 15%), and the thyroid gland (4/48, 8%). Tumors of the adrenal glands and thymus were found in three and two patients, respectively. The presenting first endocrine pathology concerned the parathyroid (27/48, 56%) and the pituitary gland (11/48, 23%). There were one (27/48, 56%), two (13/48, 27%), three (3/48, 6%), or four (5/48, 10%) syn- or metachronously affected endocrine organs in a single patient, respectively. Conclusion MEN4 is an extremely rare disease, which most frequently affects women around 50 years of age. Primary hyperparathyroidism as a uniglandular disease is the leading pathology. Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one per million. The aim of this study was to define the disease characteristics.ObjectiveMultiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one per million. The aim of this study was to define the disease characteristics.A systematic review was performed according to the PRISMA 2020 criteria. A literature search from January 2006 to August 2022 was done using MEDLINE® and Web of ScienceTM.MethodsA systematic review was performed according to the PRISMA 2020 criteria. A literature search from January 2006 to August 2022 was done using MEDLINE® and Web of ScienceTM.Forty-eight symptomatic patients fulfilled the pre-defined eligibility criteria. Twenty-eight different CDKN1B variants, mostly missense (21/48, 44%) and frameshift mutations (17/48, 35%), were reported. The majority of patients were women (36/48, 75%). Men became symptomatic at a median age of 32.5 years (range 10-68, mean 33.7 ± 23), whereas the same event was recorded for women at a median age of 49.5 years (range 5-76, mean 44.8 ± 19.9) (P = 0.25). The most frequently affected endocrine organ was the parathyroid gland (36/48, 75%; uniglandular disease 31/36, 86%), followed by the pituitary gland (21/48, 44%; hormone-secreting 16/21, 76%), the endocrine pancreas (7/48, 15%), and the thyroid gland (4/48, 8%). Tumors of the adrenal glands and thymus were found in three and two patients, respectively. The presenting first endocrine pathology concerned the parathyroid (27/48, 56%) and the pituitary gland (11/48, 23%). There were one (27/48, 56%), two (13/48, 27%), three (3/48, 6%), or four (5/48, 10%) syn- or metachronously affected endocrine organs in a single patient, respectively.ResultsForty-eight symptomatic patients fulfilled the pre-defined eligibility criteria. Twenty-eight different CDKN1B variants, mostly missense (21/48, 44%) and frameshift mutations (17/48, 35%), were reported. The majority of patients were women (36/48, 75%). Men became symptomatic at a median age of 32.5 years (range 10-68, mean 33.7 ± 23), whereas the same event was recorded for women at a median age of 49.5 years (range 5-76, mean 44.8 ± 19.9) (P = 0.25). The most frequently affected endocrine organ was the parathyroid gland (36/48, 75%; uniglandular disease 31/36, 86%), followed by the pituitary gland (21/48, 44%; hormone-secreting 16/21, 76%), the endocrine pancreas (7/48, 15%), and the thyroid gland (4/48, 8%). Tumors of the adrenal glands and thymus were found in three and two patients, respectively. The presenting first endocrine pathology concerned the parathyroid (27/48, 56%) and the pituitary gland (11/48, 23%). There were one (27/48, 56%), two (13/48, 27%), three (3/48, 6%), or four (5/48, 10%) syn- or metachronously affected endocrine organs in a single patient, respectively.MEN4 is an extremely rare disease, which most frequently affects women around 50 years of age. Primary hyperparathyroidism as a uniglandular disease is the leading pathology.ConclusionMEN4 is an extremely rare disease, which most frequently affects women around 50 years of age. Primary hyperparathyroidism as a uniglandular disease is the leading pathology. |
| Author | Probst, Pascal Adamczyk, Magdalene Singeisen, Hélène Hauswirth, Fabian Kaderli, Reto Martin Weber, Achim Muller, Markus K Renzulli, Pietro Pavlicek, Vojtech Renzulli, Mariko Melanie |
| AuthorAffiliation | Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland Institute of Radiology, Cantonal Hospital Thurgau, Frauenfeld, Switzerland Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland Department of Visceral Surgery and Medicine, Bern University Hospital, University of Bern, Bern, Switzerland Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland |
| AuthorAffiliation_xml | – name: Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland – name: Institute of Radiology, Cantonal Hospital Thurgau, Frauenfeld, Switzerland – name: Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland – name: Department of Visceral Surgery and Medicine, Bern University Hospital, University of Bern, Bern, Switzerland – name: Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland – name: Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland |
| Author_xml | – sequence: 1 givenname: Hélène surname: Singeisen fullname: Singeisen, Hélène organization: Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland – sequence: 2 givenname: Mariko Melanie surname: Renzulli fullname: Renzulli, Mariko Melanie organization: Institute of Radiology, Cantonal Hospital Thurgau, Frauenfeld, Switzerland – sequence: 3 givenname: Vojtech surname: Pavlicek fullname: Pavlicek, Vojtech organization: Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland – sequence: 4 givenname: Pascal surname: Probst fullname: Probst, Pascal organization: Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland – sequence: 5 givenname: Fabian surname: Hauswirth fullname: Hauswirth, Fabian organization: Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland – sequence: 6 givenname: Markus K surname: Muller fullname: Muller, Markus K organization: Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland – sequence: 7 givenname: Magdalene surname: Adamczyk fullname: Adamczyk, Magdalene organization: Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland – sequence: 8 givenname: Achim surname: Weber fullname: Weber, Achim organization: Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland – sequence: 9 givenname: Reto Martin surname: Kaderli fullname: Kaderli, Reto Martin organization: Department of Visceral Surgery and Medicine, Bern University Hospital, University of Bern, Bern, Switzerland – sequence: 10 givenname: Pietro orcidid: 0000-0001-5557-5512 surname: Renzulli fullname: Renzulli, Pietro email: pietro.renzulli@stgag.ch organization: Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland |
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| Snippet | Objective Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one... Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is less than one per... Objective: Multiple endocrine neoplasia type 4 (MEN4) is caused by a CDKN1B germline mutation first described in 2006. Its estimated prevalence is le ss than... |
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| SubjectTerms | cdkn1b multiple endocrine neoplasia type 4 parathyroid gland pituitary gland |
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| Title | Multiple endocrine neoplasia type 4: a new member of the MEN family |
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