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A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.

Remde H, Kaminsky E, Werner M, Quinkler M - Endocrinol Diabetes Metab Case Rep (2015)

Bottom Line: The patient underwent transsphenoidal operation resulting in pituitary insufficiency postoperatively.His father was reported to have multiple osteochondromas too.In genetic mutational analysis of the EXT1 gene, another not yet known mutation c.1418-2A>C was found in intron 5 of the EXT1 gene (heterozygotic).

View Article: PubMed Central - PubMed

Affiliation: Charité University Medicine , Berlin , Germany.

ABSTRACT

Unlabelled: We report of a male patient aged 32 years who presented with primary hyperparathyroidism. Three parathyroid glands were resected. At the age of 46 years, nervus facialis irritation was noted, and an MRI scan incidentally revealed a non-functioning pituitary adenoma with affection of the chiasma opticum. The patient underwent transsphenoidal operation resulting in pituitary insufficiency postoperatively. At the same time, primary hyperparathyroidism reoccurred and a parathyroid adenoma located at the thymus was resected. The mother of the patient died early due to multiple tumors. The patient was suspected to have multiple endocrine neoplasia type 1 (MEN1) and genetic analysis was performed. In addition, on clinical examination, multiple exostoses were noticed and an additional genetic analysis was performed. His father was reported to have multiple osteochondromas too. MEN1 was diagnosed in the patient showing a novel heterozygote mutation c.2T>A in exon 2, codon 1 (start codon ATG>AAG;p.Met1?) of the MEN1 gene. In genetic mutational analysis of the EXT1 gene, another not yet known mutation c.1418-2A>C was found in intron 5 of the EXT1 gene (heterozygotic). In conclusion, we report novel mutations of the EXT1 and the MEN1 genes causing hereditary multiple osteochondromas and MEN1 in one patient.

Learning points: It is important to ask for the patient's family history in detail.Patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues and nonendocrine tissues, most frequently parathyroid (95%), enteropancreatic neuroendocrine (50%), and anterior pituitary (40%) tissues.Familiar MEN1 has a high degree of penetrance (80-95%) by the age over 50; however, combinations of the tumors may be different in members of the same family.Patients with EXT1 gene mutations should be monitored for possible transformation of bone lesions into osteochondrosarcoma.

No MeSH data available.


Related in: MedlinePlus

Pelvic overview – impairment of ilium, lumbal vertebra 5, and bothfemoral necks at the age of 17 years.
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fig3: Pelvic overview – impairment of ilium, lumbal vertebra 5, and bothfemoral necks at the age of 17 years.

Mentions: For further treatment and follow-up, the patient was referred to the endocrineoutpatient clinic. During clinical examination of the patient, deformities of theforearms and shortened upper arms were noted (Fig.1). According to the patient, these skeletal changes existed since earlychildhood. Reviewing bone X-rays, which were made when he was 17 years old, multipleexostoses, called osteochondromas, of all long bones and some flat bones could be seen(Figs 2 and 3). Neither osteochondromas nor other bone tumors have been reported withMEN1. Reassessing the patient's family history solved this issue. The mother did nothave any bone problems, neither bone tumors nor deformities, but the patient's fatherwas reported to have the same kind of bone affections. Thus, an additional geneticdisease was made: HMO. In 2011, the patient suffered from increasing pain of the leftthird rib. An exostosis was removed and histopathological examination revealed anosteochondroma (Fig. 4).Figure 1


A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.

Remde H, Kaminsky E, Werner M, Quinkler M - Endocrinol Diabetes Metab Case Rep (2015)

Pelvic overview – impairment of ilium, lumbal vertebra 5, and bothfemoral necks at the age of 17 years.
© Copyright Policy - license
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4621953&req=5

fig3: Pelvic overview – impairment of ilium, lumbal vertebra 5, and bothfemoral necks at the age of 17 years.
Mentions: For further treatment and follow-up, the patient was referred to the endocrineoutpatient clinic. During clinical examination of the patient, deformities of theforearms and shortened upper arms were noted (Fig.1). According to the patient, these skeletal changes existed since earlychildhood. Reviewing bone X-rays, which were made when he was 17 years old, multipleexostoses, called osteochondromas, of all long bones and some flat bones could be seen(Figs 2 and 3). Neither osteochondromas nor other bone tumors have been reported withMEN1. Reassessing the patient's family history solved this issue. The mother did nothave any bone problems, neither bone tumors nor deformities, but the patient's fatherwas reported to have the same kind of bone affections. Thus, an additional geneticdisease was made: HMO. In 2011, the patient suffered from increasing pain of the leftthird rib. An exostosis was removed and histopathological examination revealed anosteochondroma (Fig. 4).Figure 1

Bottom Line: The patient underwent transsphenoidal operation resulting in pituitary insufficiency postoperatively.His father was reported to have multiple osteochondromas too.In genetic mutational analysis of the EXT1 gene, another not yet known mutation c.1418-2A>C was found in intron 5 of the EXT1 gene (heterozygotic).

View Article: PubMed Central - PubMed

Affiliation: Charité University Medicine , Berlin , Germany.

ABSTRACT

Unlabelled: We report of a male patient aged 32 years who presented with primary hyperparathyroidism. Three parathyroid glands were resected. At the age of 46 years, nervus facialis irritation was noted, and an MRI scan incidentally revealed a non-functioning pituitary adenoma with affection of the chiasma opticum. The patient underwent transsphenoidal operation resulting in pituitary insufficiency postoperatively. At the same time, primary hyperparathyroidism reoccurred and a parathyroid adenoma located at the thymus was resected. The mother of the patient died early due to multiple tumors. The patient was suspected to have multiple endocrine neoplasia type 1 (MEN1) and genetic analysis was performed. In addition, on clinical examination, multiple exostoses were noticed and an additional genetic analysis was performed. His father was reported to have multiple osteochondromas too. MEN1 was diagnosed in the patient showing a novel heterozygote mutation c.2T>A in exon 2, codon 1 (start codon ATG>AAG;p.Met1?) of the MEN1 gene. In genetic mutational analysis of the EXT1 gene, another not yet known mutation c.1418-2A>C was found in intron 5 of the EXT1 gene (heterozygotic). In conclusion, we report novel mutations of the EXT1 and the MEN1 genes causing hereditary multiple osteochondromas and MEN1 in one patient.

Learning points: It is important to ask for the patient's family history in detail.Patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues and nonendocrine tissues, most frequently parathyroid (95%), enteropancreatic neuroendocrine (50%), and anterior pituitary (40%) tissues.Familiar MEN1 has a high degree of penetrance (80-95%) by the age over 50; however, combinations of the tumors may be different in members of the same family.Patients with EXT1 gene mutations should be monitored for possible transformation of bone lesions into osteochondrosarcoma.

No MeSH data available.


Related in: MedlinePlus