Gastrointestinal (GI) leiomyosarcoma (LMS) case series and review on diagnosis, management, and prognosis

Abstract

This review of 76 gastrointestinal (GI) leiomyosarcoma (LMS) cases that include 11 cases from the American University of Beirut Medical Center represents, to our knowledge, the largest number of combined GI LMS cases reported. The age range of GI LMS is variable, and the presentation is non-specific, making pathological diagnosis essential. LMSs usually lack CD117 and CD 34 mutations and are usually positive for smooth muscle cell markers. The review highlights surgery as the mainstay of treatment with negative margins attained most of the times. Adjuvant chemotherapy is used in around 7-27 % of the cases mainly for small intestinal and colorectal LMS. The relatively small number of patients is a limitation on outcome analysis. However, LMS has a risk of recurrence reaching 39-80 % and secondary metastasis reaching 55-71 % in small intestinal and colorectal cases. In light of the high frequency of recurrence and metastasis, enrolling patients in clinical randomized trials to investigate the role of chemotherapy, radiation therapy, and targeted therapy is required for better control of this rare aggressive GI tumor.

An Unusual Small Bowel Lesion

“…Leiomyosarcoma is a rare smooth muscle malignant neoplasm that accounts for 10–20% of all soft tissue sarcomas [1]. It appears most commonly in the retroperitoneum, large blood vessels, and uterus, and less frequently in the lower extremities [1, 2]. Both primary and metastatic leiomyosarcoma of the small bowel are extremely rare [3].…”

“…In our case, the primary tumor is unknown since the diagnosis was made at a late stage of the disease, although clinical history strongly suggests that the lower limb might have been the origin. Gastrointestinal bleeding and intestinal obstruction are the most common presenting signs of a small bowel leiomyosarcoma [1]. Surgical resection is the treatment of choice in patients with localized disease [2].…”

“…Data on chemotherapy for unresectable metastatic leiomyosarcoma are scarce [2]. The most commonly used drugs as initial treatment in metastatic soft tissue sarcomas – doxorubicin and ifosfamide – show limited efficacy for leiomyosarcoma, with response rates between 10 and 25% [1, 2].…”

Ileal leiomyosarcoma presenting with intussusception

“…The tools to definitively distinguish the two were only developed in the late 1990s [8]. Gastrointestinal leiomyosarcomas are exceedingly rare, with a recent literature review highlighting only 76 published cases, 30 of which were in the small bowel [9]. Ileum was the second most common site of the tumour in the small intestine after the duodenum.…”

Subepithelial rectal gastrointestinal stromal tumor – the use of endoscopic ultrasound-guided fine needle aspiration to establish a definitive cytological diagnosis: a case report

“…The endoscopic resection of leiomyomas has lesser perforation rates than GISTs resection [26]. Leiomyosarcomas have a worse prognosis compared to GISTs, as their recurrence rate and subsequent metastasis rate may reach 70% and 80% respectively [27]. Schwannomas are benign tumors that tend to recur locally and to become malignant.…”