Posters
Presentation Type
Poster
Discipline Track
Clinical Science
Abstract Type
Case Report
Abstract
Background: Low-grade Fibromyxoid Sarcoma (LGFMS) is a rare soft-tissue sarcoma with an incidence rate of 0.18 per million, first introduced into the literature by Harry L. Evans in 1987 [1]. This tumor, of mesenchymal origin, has a predilection for young adults and is most commonly found in the upper and lower extremities of deep soft tissues [1,2,3,4,5]. LGFMS has been described as having multiple variants, often presenting histologically as alternating fibrous and myxoid areas containing bland spindle and stellate cells arranged in a swirling, whorled appearance [6]. The predominant chromosomal abnormality of LGFMS has a FUS-CREB3L2 fusion gene with a t(7; 16)(q33; p11) translocation. While other fusion genes expressed by LGFMS are rare, the second most common variation seen is FUS-CREB3L1, which occurs due to a t(11;16)(p11;p11) chromosomal translocation [1,2]. Evans’ original report indicated that although slow-growing, this tumor had a high incidence of recurrence with a tendency to metastasize [7]. This insidious nature was highlighted in a 2011 study that showed after a mean follow-up of 14 years, 50% of the patients developed metastasis, and 42% died of the disease [8]. These prognostic factors associated with LGFMS make early detection and definitive management essential in reducing morbidity and mortality in this patient population [9]. This case study aims to highlight the presentation of primary LGFMS in a unique anatomical location within a demographic not commonly affected by this disease.
Case presentation: A 28-year-old Hispanic female presented to the clinic for evaluation of a slow-growing mass present in the left upper chest for the past four years. Prior to arriving at the clinic, the patient received a diagnostic ultrasound that displayed a 1.8 x 1.5 x 1 cm solid mass in the upper chest. The patient stated that although the mass had not grown significantly, and she was overall asymptomatic, mild discomfort was present on direct palpation of the involved tissue. The patient denied any significant past medical history, family history, recent trauma, or other known risk factors, thus additional recommendations were made for an excisional biopsy. Subsequent histopathology of the mass demonstrated a soft tissue sarcoma positive for MUC-4. In addition to the biopsy findings seen in this mass, as well as the Federation of Cancer Centers Sarcoma Group (FNCLCC) grading system providing our patient’s tumor with a total score of 2 for parameters that determine a tumor's grade, a diagnosis strongly favoring a LGFMS was made.
Conclusions: LGFMS is a rare and insidious soft-tissue sarcoma with a high incidence of recurrence and metastasis. Its rarity and appearance make it challenging to diagnose and manage effectively. However, histologic examination and FISH can aid in diagnostic accuracy. This entails identifying the alternating fibrous and myxoid areas containing bland spindle and stellate cells arranged in a swirling, whorled appearance and the FUS-CREB3L2 fusion gene with a t(7;16) (q33;p11) translocation. This case highlights the importance of considering LGFMS in the differential diagnosis of soft-tissue tumors, even in atypical anatomical locations and demographics not commonly affected by this disease. Unfortunately, the rarity and benign appearance of LGFMS can delay diagnosis, potentially affecting the patient's prognosis. Therefore, early detection and definitive management are crucial to improving outcomes for patients with LGFMS. Further research into the pathogenesis of LGFMS is needed to improve early detection, definitive management, and the prognosis of affected patients.
Academic/Professional Position
Medical Student
Academic/Professional Position (Other)
MS2
Recommended Citation
Dadzie, Aaron I.; Alsabawi, Yossef; Akpati, Lois C.; Alia, Valentine S.; and Galindo, Roger, "Fibromyxoid Sarcoma of the Breast: An Atypical Presentation of a Rare Mesenchymal Tumor" (2024). Research Symposium. 47.
https://scholarworks.utrgv.edu/somrs/2023/posters/47
Included in
Fibromyxoid Sarcoma of the Breast: An Atypical Presentation of a Rare Mesenchymal Tumor
Background: Low-grade Fibromyxoid Sarcoma (LGFMS) is a rare soft-tissue sarcoma with an incidence rate of 0.18 per million, first introduced into the literature by Harry L. Evans in 1987 [1]. This tumor, of mesenchymal origin, has a predilection for young adults and is most commonly found in the upper and lower extremities of deep soft tissues [1,2,3,4,5]. LGFMS has been described as having multiple variants, often presenting histologically as alternating fibrous and myxoid areas containing bland spindle and stellate cells arranged in a swirling, whorled appearance [6]. The predominant chromosomal abnormality of LGFMS has a FUS-CREB3L2 fusion gene with a t(7; 16)(q33; p11) translocation. While other fusion genes expressed by LGFMS are rare, the second most common variation seen is FUS-CREB3L1, which occurs due to a t(11;16)(p11;p11) chromosomal translocation [1,2]. Evans’ original report indicated that although slow-growing, this tumor had a high incidence of recurrence with a tendency to metastasize [7]. This insidious nature was highlighted in a 2011 study that showed after a mean follow-up of 14 years, 50% of the patients developed metastasis, and 42% died of the disease [8]. These prognostic factors associated with LGFMS make early detection and definitive management essential in reducing morbidity and mortality in this patient population [9]. This case study aims to highlight the presentation of primary LGFMS in a unique anatomical location within a demographic not commonly affected by this disease.
Case presentation: A 28-year-old Hispanic female presented to the clinic for evaluation of a slow-growing mass present in the left upper chest for the past four years. Prior to arriving at the clinic, the patient received a diagnostic ultrasound that displayed a 1.8 x 1.5 x 1 cm solid mass in the upper chest. The patient stated that although the mass had not grown significantly, and she was overall asymptomatic, mild discomfort was present on direct palpation of the involved tissue. The patient denied any significant past medical history, family history, recent trauma, or other known risk factors, thus additional recommendations were made for an excisional biopsy. Subsequent histopathology of the mass demonstrated a soft tissue sarcoma positive for MUC-4. In addition to the biopsy findings seen in this mass, as well as the Federation of Cancer Centers Sarcoma Group (FNCLCC) grading system providing our patient’s tumor with a total score of 2 for parameters that determine a tumor's grade, a diagnosis strongly favoring a LGFMS was made.
Conclusions: LGFMS is a rare and insidious soft-tissue sarcoma with a high incidence of recurrence and metastasis. Its rarity and appearance make it challenging to diagnose and manage effectively. However, histologic examination and FISH can aid in diagnostic accuracy. This entails identifying the alternating fibrous and myxoid areas containing bland spindle and stellate cells arranged in a swirling, whorled appearance and the FUS-CREB3L2 fusion gene with a t(7;16) (q33;p11) translocation. This case highlights the importance of considering LGFMS in the differential diagnosis of soft-tissue tumors, even in atypical anatomical locations and demographics not commonly affected by this disease. Unfortunately, the rarity and benign appearance of LGFMS can delay diagnosis, potentially affecting the patient's prognosis. Therefore, early detection and definitive management are crucial to improving outcomes for patients with LGFMS. Further research into the pathogenesis of LGFMS is needed to improve early detection, definitive management, and the prognosis of affected patients.