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Mutation status of the mediator complex subunit 12 (MED12) in uterine leiomyomas and concurrent/metachronous multifocal peritoneal smooth muscle nodules (leiomyomatosis peritonealis disseminata).
Pathology. 2013 06; 45(4):388-92.P

Abstract

AIMS

The pathogenesis and classification of multicentric smooth muscle tumours with benign appearance and concurrent/metachronous uterine and peritoneal involvement is controversial and may on occasion be diagnostically challenging. Leiomyomatosis peritonealis disseminata (LPD) is a rare condition affecting women of reproductive age, characterised by the occurrence of multiple small peritoneal smooth muscle nodules with bland histology.

METHODS

We investigated a total of 12 uterine and seven concurrent/metachronous peritoneal smooth muscle nodules with benign appearance from two females for mutations in the mediator complex subunit 12 (MED12), which has recently been identified as the most frequent genetic aberration in uterine leiomyomas.

RESULTS

The first case harboured different MED12 mutations in the peritoneal nodules. Mutational status of peritoneal nodules was discordant with that of the uterine leiomyomas. The second case displayed the same MED12 mutation in all five peritoneal nodules, but this mutation was not detected in her current uterine leiomyomas.

CONCLUSIONS

Our results suggest that smooth muscle neoplasms with benign appearance of the primary and secondary müllerian system share a similar genetic background of MED12 mutation in combination with oestrogen dependency. Analysis of MED12 mutation status might be a valuable adjunct tool for the future classification of these sometimes diagnostically challenging multicentric tumours.

Authors+Show Affiliations

Department of Pathology, University Hospital, University of Erlangen-Nuremberg, Erlangen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23635816

Citation

Rieker, Ralf J., et al. "Mutation Status of the Mediator Complex Subunit 12 (MED12) in Uterine Leiomyomas and Concurrent/metachronous Multifocal Peritoneal Smooth Muscle Nodules (leiomyomatosis Peritonealis Disseminata)." Pathology, vol. 45, no. 4, 2013, pp. 388-92.
Rieker RJ, Agaimy A, Moskalev EA, et al. Mutation status of the mediator complex subunit 12 (MED12) in uterine leiomyomas and concurrent/metachronous multifocal peritoneal smooth muscle nodules (leiomyomatosis peritonealis disseminata). Pathology. 2013;45(4):388-92.
Rieker, R. J., Agaimy, A., Moskalev, E. A., Hebele, S., Hein, A., Mehlhorn, G., Beckmann, M. W., Hartmann, A., & Haller, F. (2013). Mutation status of the mediator complex subunit 12 (MED12) in uterine leiomyomas and concurrent/metachronous multifocal peritoneal smooth muscle nodules (leiomyomatosis peritonealis disseminata). Pathology, 45(4), 388-92. https://doi.org/10.1097/PAT.0b013e328360bf97
Rieker RJ, et al. Mutation Status of the Mediator Complex Subunit 12 (MED12) in Uterine Leiomyomas and Concurrent/metachronous Multifocal Peritoneal Smooth Muscle Nodules (leiomyomatosis Peritonealis Disseminata). Pathology. 2013;45(4):388-92. PubMed PMID: 23635816.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation status of the mediator complex subunit 12 (MED12) in uterine leiomyomas and concurrent/metachronous multifocal peritoneal smooth muscle nodules (leiomyomatosis peritonealis disseminata). AU - Rieker,Ralf J, AU - Agaimy,Abbas, AU - Moskalev,Evgeny A, AU - Hebele,Simone, AU - Hein,Alexander, AU - Mehlhorn,Grit, AU - Beckmann,Matthias W, AU - Hartmann,Arndt, AU - Haller,Florian, PY - 2013/5/3/entrez PY - 2013/5/3/pubmed PY - 2013/12/18/medline SP - 388 EP - 92 JF - Pathology JO - Pathology VL - 45 IS - 4 N2 - AIMS: The pathogenesis and classification of multicentric smooth muscle tumours with benign appearance and concurrent/metachronous uterine and peritoneal involvement is controversial and may on occasion be diagnostically challenging. Leiomyomatosis peritonealis disseminata (LPD) is a rare condition affecting women of reproductive age, characterised by the occurrence of multiple small peritoneal smooth muscle nodules with bland histology. METHODS: We investigated a total of 12 uterine and seven concurrent/metachronous peritoneal smooth muscle nodules with benign appearance from two females for mutations in the mediator complex subunit 12 (MED12), which has recently been identified as the most frequent genetic aberration in uterine leiomyomas. RESULTS: The first case harboured different MED12 mutations in the peritoneal nodules. Mutational status of peritoneal nodules was discordant with that of the uterine leiomyomas. The second case displayed the same MED12 mutation in all five peritoneal nodules, but this mutation was not detected in her current uterine leiomyomas. CONCLUSIONS: Our results suggest that smooth muscle neoplasms with benign appearance of the primary and secondary müllerian system share a similar genetic background of MED12 mutation in combination with oestrogen dependency. Analysis of MED12 mutation status might be a valuable adjunct tool for the future classification of these sometimes diagnostically challenging multicentric tumours. SN - 1465-3931 UR - https://www.unboundmedicine.com/medline/citation/23635816/Mutation_status_of_the_mediator_complex_subunit_12__MED12__in_uterine_leiomyomas_and_concurrent/metachronous_multifocal_peritoneal_smooth_muscle_nodules__leiomyomatosis_peritonealis_disseminata__ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0031302516315434 DB - PRIME DP - Unbound Medicine ER -