Lack of MDM2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcoma
Undifferentiated sarcomas are malignant mesenchymal neoplasms lacking any specific line of differentiation and are typically a diagnosis of exclusion requiring supplemental diagnostic testing. We present a case of a 68 year old male with a thigh mass. Microscopic evaluation revealed a spindle and ep...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2018-09-01
|
| Series: | Human Pathology: Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214330017301591 |
| _version_ | 1818148139744362496 |
|---|---|
| author | Melissa M. Straub Ferrin C. Wheeler Sarah M. Deraney Emily S. Reisenbichler |
| author_facet | Melissa M. Straub Ferrin C. Wheeler Sarah M. Deraney Emily S. Reisenbichler |
| author_sort | Melissa M. Straub |
| collection | DOAJ |
| description | Undifferentiated sarcomas are malignant mesenchymal neoplasms lacking any specific line of differentiation and are typically a diagnosis of exclusion requiring supplemental diagnostic testing. We present a case of a 68 year old male with a thigh mass. Microscopic evaluation revealed a spindle and epithelioid cell neoplasm with pleomorphic nuclei arranged in vague, irregular fascicles and positive nuclear MDM2 staining. Fluorescence in situ hybridization (FISH) analysis demonstrated 36.2 average MDM2 signals and 31.7 average centromere 12 signals per cell (1.1 ratio). Although a dedifferentiated liposarcoma is defined by MDM2 amplification, the lack of an adjacent well differentiated liposarcoma component and radiographic characteristics argued against a lipomatous tumor in this case, leading to a diagnosis of undifferentiated sarcoma, despite the markedly increased MDM2 copy number. With expanding utilization of molecular and cytogenetic testing of tumors, this case highlights questions regarding the interpretation and incorporation of these results in diagnostic soft tissue pathology. Keywords: Undifferentiated pleomorphic sarcoma, MDM2, Fluorescence in situ hybridization (FISH), Polysomy |
| first_indexed | 2024-12-11T12:46:24Z |
| format | Article |
| id | doaj.art-1d577a9e36e6407eb36ca0d4fea4f86a |
| institution | Directory Open Access Journal |
| issn | 2214-3300 |
| language | English |
| last_indexed | 2024-12-11T12:46:24Z |
| publishDate | 2018-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Human Pathology: Case Reports |
| spelling | doaj.art-1d577a9e36e6407eb36ca0d4fea4f86a2022-12-22T01:06:49ZengElsevierHuman Pathology: Case Reports2214-33002018-09-011313Lack of MDM2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcomaMelissa M. Straub0Ferrin C. Wheeler1Sarah M. Deraney2Emily S. Reisenbichler3Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN 37232-2561, United StatesDepartment of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN 37232-2561, United StatesDepartment of Radiology, Vanderbilt University Medical Center, Nashville, TN 37232-2561, United StatesDepartment of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN 37232-2561, United States; Corresponding author at: Yale University, 310 Cedar St., PO Box 208023, New Haven, CT 06520-8023, United States.Undifferentiated sarcomas are malignant mesenchymal neoplasms lacking any specific line of differentiation and are typically a diagnosis of exclusion requiring supplemental diagnostic testing. We present a case of a 68 year old male with a thigh mass. Microscopic evaluation revealed a spindle and epithelioid cell neoplasm with pleomorphic nuclei arranged in vague, irregular fascicles and positive nuclear MDM2 staining. Fluorescence in situ hybridization (FISH) analysis demonstrated 36.2 average MDM2 signals and 31.7 average centromere 12 signals per cell (1.1 ratio). Although a dedifferentiated liposarcoma is defined by MDM2 amplification, the lack of an adjacent well differentiated liposarcoma component and radiographic characteristics argued against a lipomatous tumor in this case, leading to a diagnosis of undifferentiated sarcoma, despite the markedly increased MDM2 copy number. With expanding utilization of molecular and cytogenetic testing of tumors, this case highlights questions regarding the interpretation and incorporation of these results in diagnostic soft tissue pathology. Keywords: Undifferentiated pleomorphic sarcoma, MDM2, Fluorescence in situ hybridization (FISH), Polysomyhttp://www.sciencedirect.com/science/article/pii/S2214330017301591 |
| spellingShingle | Melissa M. Straub Ferrin C. Wheeler Sarah M. Deraney Emily S. Reisenbichler Lack of MDM2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcoma Human Pathology: Case Reports |
| title | Lack of MDM2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcoma |
| title_full | Lack of MDM2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcoma |
| title_fullStr | Lack of MDM2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcoma |
| title_full_unstemmed | Lack of MDM2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcoma |
| title_short | Lack of MDM2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcoma |
| title_sort | lack of mdm2 interpretation guidelines contribute to diagnostic difficulty in a case of undifferentiated sarcoma |
| url | http://www.sciencedirect.com/science/article/pii/S2214330017301591 |
| work_keys_str_mv | AT melissamstraub lackofmdm2interpretationguidelinescontributetodiagnosticdifficultyinacaseofundifferentiatedsarcoma AT ferrincwheeler lackofmdm2interpretationguidelinescontributetodiagnosticdifficultyinacaseofundifferentiatedsarcoma AT sarahmderaney lackofmdm2interpretationguidelinescontributetodiagnosticdifficultyinacaseofundifferentiatedsarcoma AT emilysreisenbichler lackofmdm2interpretationguidelinescontributetodiagnosticdifficultyinacaseofundifferentiatedsarcoma |