Myxoid liposarcoma in a 91-year-old patient
© Sheffield and Nielsen; licensee BioMed Central Ltd. 2013
Received: 5 September 2013
Accepted: 23 October 2013
Published: 19 November 2013
Myxoid liposarcoma is a mesenchymal malignancy most commonly presenting in young adults. This tumor is known for its characteristic chromosomal rearrangement at the DDIT3 locus.
We report a case of myxoid liposarcoma in a 91-year-old, the oldest known patient with this disease-entity. FISH analysis of the DDIT3 and FUS loci demonstrate the pathognomonic chromosomal alteration in the setting of predominantly round cell histology on biopsy, confirmed by RT-PCR.
Myxoid liposarcoma affects mostly young adults but can be seen in the elderly population. Molecular and cytogenetic assays are helpful auxiliaries to histology in the setting of unusual histology and clinical presentation.
KeywordsLiposarcoma Myxoid liposarcoma Round cell liposarcoma Advanced age DDIT3 FUS FISH
Myxoid liposarcoma, the second-most common subtype of liposarcoma, accounts for 10% of soft tissue sarcomas . Myxoid liposarcoma tends to occur on extremities, with two thirds of cases originating in the thigh . This disease affects a younger demographic than most cancers with peak incidence between ages 30–50 , and is the most common subtype of liposarcoma in the pediatric age group .
Typical myxoid liposarcoma histology shows nonpleomorphic ovoid mesenchymal cells and rare lipoblasts amidst a prominent myxoid stroma, with an intricately plexiform vasculature. Round-cell liposarcoma, a high-grade form of myxoid liposarcoma, lacks myxoid matrix leaving closely packed, round mesenchymal cells. Regions of myxoid and round-cell liposarcoma morphologies often coexist (MLS/RCLS).
Both morphologies share identical cytogenetic aberrations and are thus considered as a single pathologic entity . A reciprocal translocation t(12;16) can be identified in the majority of cases  creating an in-frame fusion of FUS and DDIT3 that is specific for MLS/RCLS . A small proportion of cases harbor an alternate t(12;22) EWS-DDIT3 rearrangement . Demonstration of disruption at the DDIT3 locus is an effective diagnostic tool for MLS/RCLS , with break-apart fluorescent in situ hybridization (FISH) probes commercially available.
The most powerful prognostic marker in MLS/RCLS is the presence of a round cell component comprising greater than 5% of the tumor. These high grade round cell liposarcaromas have been shown to behave more aggressively with decreased overall survival and metastasis free survival .
Compared with other soft tissue sarcomas, MLS/RCLS is particularly sensitive to radiation therapy . Accordingly, neoadjuvant radiation has been recommended in the treatment of myxoid liposarcoma . This finding places increased significance on accurate diagnosis prior to surgical resection.
The following report depicts a case of MLS/RCLS in a rare elderly age demographic while highlighting the salient diagnostic features of this disease, and the value of molecular testing in the context of unusual clinical features and histology.
A 91-year-old male presented to a local emergency department complaining of a large mass in the medial thigh that had grown in size over the preceding several weeks. The mass was otherwise asymptomatic.
The patient’s past medical history included atrial fibrillation and hypertension, prostate cancer treated by resection with local recurrence treated by radiotherapy 20 years previously, laryngeal cancer treated by radiotherapy 14 years previously, and finally, separate histories of both colon and anal cancer treated with an abdominal-perineal resection 6 years previously. The patient reported a family history of ovarian cancer and multiple prostate cancers.
A search of the medical literature was performed for reports of myxoid and/or round cell liposarcoma in the elderly. Moreau et al. recently published a series of 418 MLS/RCLS patients, the oldest being 85 years old at presentation. To our knowledge, the current case represents the oldest reported age for a patient presenting with primary myxoid or round cell liposarcoma.
Several facets of myxoid liposarcoma diagnosis and treatment are highlighted in this case. The diagnosis of myxoid liposarcoma in an elderly patient is uncommon, but does occur. Thus an advanced age should not exclude myxoid liposarcoma when other clinical, radiologic, histologic, or molecular findings support this diagnosis.
Myxoid liposarcoma can show a wide variation of histologic patterns, at times within the same tumor . This can lead to difficult diagnoses, especially on small biopsy specimens. This case highlights the value of molecular diagnosis as an adjunct to histology. FISH is available in specialty centers, and is available to most surgical pathology labs as it can be performed on standard formalin-fixed, paraffin-embedded tissue sections (shipped to central labs if needed). In the current era of diagnostics, molecular confirmation of sarcomas is quickly becoming a standard of care for several types of sarcomas bearing pathognomonic genetic events. The availability of molecular diagnostic tools may, in part, contribute to the overall improved outcomes observed in sarcoma patients treated at higher volume institutions .
The accurate preoperative diagnosis of myxoid liposarcoma prioritized neoadjuvant radiotherapy as the next step in management. This treatment modality has particular benefit in myxoid liposarcoma . Accurate diagnosis on biopsy in elderly patients may have additional value if poor baseline functioning precludes the patient as a surgical candidate, as palliative radiation may be particularly effective after a diagnosis of myxoid liposarcoma.
Myxoid/round cell liposarcoma is a relatively common sarcoma among younger adults presenting with a large, deep-seated malignant primary soft tissue mass. However, this tumor can affect older individuals. Molecular cytogenetic studies can greatly assist diagnosis in cases with unusual clinical and histologic features.
Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
We would like to acknowledge Marina Pacheco and Angela Goytain for assistance with the gross photography and molecular testing. Molecular studies were supported by funding from the Liddy Shriver Sarcoma Initiative. We would like to thank the UBC Anatomical Pathology residency program for their continued support.
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