Mark Edward Puhaindran

Partial Hand Preservation for Large Soft Tissue Sarcomas of the Hand

PURPOSE Hand amputations cause marked functional loss for patients. In patients with large soft tissue sarcomas of the hand, partial hand preservation is extremely challenging for surgeons attempting a complete resection of the tumor with negative resection margins. We conducted this review to examine the oncologic outcome, including local recurrence rate and patient overall survival, and functional outcome after resections for large soft tissue sarcomas with partial hand preservation. METHODS We performed a retrospective review of all patients with soft tissue sarcomas of the hand treated at our institution from 1995 to 2007. We identified 8 patients who had tumors at least 5 cm in maximum dimension and had tumor resection with partial hand preservation. The mean age at the time of surgery was 49 years (range, 10-80 years). Two patients had myxofibrosarcoma, 2 patients had synovial sarcoma, 2 patients had malignant fibrous histiocytoma, 1 patient had a malignant peripheral nerve sheath tumor, and 1 patient had a liposarcoma. Two patients had low-grade tumors, and 6 patients had high-grade tumors. Two patients had American Joint Committee on Cancer stage 1b tumors, and 6 patients had American Joint Committee on Cancer stage 3 tumors. No patients had distant metastases at the time of surgery. Hand function was evaluated using Musculoskeletal Tumor Society criteria. RESULTS Of the 8 patients, 1 died of distant metastatic disease, 1 developed local tumor recurrence and is alive with locally recurrent disease, and the other 6 patients are completely disease-free. The mean Musculoskeletal Tumor Society score was 26 (range, 19-29), with the 2 patients who had received double-ray amputations having the lower scores (19 and 24). CONCLUSIONS Partial hand preservation is possible in selected patients with large soft tissue sarcomas of the hand, obtaining low local recurrence rates, good overall survival, and good functional outcome. However, all effort should be made to achieve negative resection margins. TYPE OF STUDY/LEVEL OF EVIDENCE Therapeutic IV.

Complications of radiation therapy to the hand after soft tissue sarcoma surgery

PURPOSE Radiation has been shown to improve local control after resection of soft tissue sarcomas. However, it may also result in major complications in the hand, given the compact nature of functional tissues and limited tissue volumes in the hand. The purpose of this investigation was to describe the hand-specific complications of radiation therapy for patients with soft tissue sarcoma of the hand (STSH). METHODS We performed a retrospective chart review of 55 consecutive patients with STSH treated by a single surgeon between 1993 and 2006. We identified 26 patients who were treated with external beam radiation, brachytherapy, or both, either preoperatively or postoperatively, and reviewed their clinical course. RESULTS After a median follow-up of 7 years, 29 treatment-related complications occurred in 19 patients who had received radiation, whereas 3 of the 29 patients treated with surgery alone developed complications. All patients who received brachytherapy and 14 of the 21 treated with external beam radiation alone developed complications. There were 5 early minor, 2 early major, 3 late minor, and 19 late major complications. CONCLUSIONS Patients with STSH who underwent radiation therapy had a high rate of complications. The complication rate in our series was higher in patients who had brachytherapy catheters placed adjacent to finger joints. A better understanding of predictors of complications will help to determine the optimal timing and type of radiation therapy to treat patients with STSH. TYPE OF STUDY/LEVEL OF EVIDENCE Therapeutic IV.

Clinical outcomes for patients with soft tissue sarcoma of the hand.

In an earlier report from the current study center regarding surgical treatment for patients with soft tissue sarcoma (STS) of the hand, it was concluded that repeat resection or amputation improves outcomes. Since then, the authors have aggressively sought to achieve negative resection margins, using standard or modified amputations when needed, and performing repeat resections to negative surgical margins when they were not achieved at the time of initial surgery. The current review was conducted to determine whether this approach resulted in better outcomes.

Novel exon–exon breakpoint in CIC-DUX4 fusion sarcoma identified by anchored multiplex PCR (Archer FusionPlex Sarcoma Panel)

Aims We describe the clinical and pathological features and novel genetic findings of a case of CIC-DUX4 sarcoma occurring in the thigh of a 35-year-old man. Methods Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was used to identify the novel fusion breakpoints of this CIC-DUX4 sarcoma using formalin-fixed and paraffin-embedded tumour material. Results This CIC-DUX4 sarcoma has a novel fusion breakpoint between exon 20 of the CIC gene and exon 1 of the DUX4 gene. Conclusions This case report describes an additional case of CIC-DUX4 sarcoma with a novel fusion breakpoint, and demonstrates the value of this next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) in both diagnosis for patient care and in identification of a novel fusion breakpoint in this tumour type.

Angiomyofibroblastoma of the Foot: a Rare Soft Tissue Tumor at Unusual Site

Angiomyofibroblastoma is a rare benign soft tissue tumor that arises predominantly in the female genital tract. It occurs less commonly in the scrotum, spermatic cord, and the retroperitoneum. Its diagnosis is based on specific histological and immunopathological features. However, the condition has never been previously described in the extremities. We present the first case report of angiomyofibroblastoma presenting as a slow-growing tumor in the foot of a 48-year-old lady.

Primary Epithelioid Angiosarcoma of Finger Masquerading as Epithelioid Hemangioma: Report of a Case and Analysis of Mutational Pattern in Epithelioid Hemangiomas and Angiosarcomas by Next-generation Sequencing

Aims: We report an unusual case of epithelioid angiosarcoma (AS) mimicking an epithelioid hemangioma (EH) and analyze mutational patterns in EHs and ASs. Methods and Results: A 58-year-old woman presented with a finger lump and metastatic lung nodules. Initial needle biopsies showed an EH, with only focal atypical histologic features. The patient underwent finger amputation and resection of lung nodules. The amputation specimen and lung nodules revealed features of AS. Fluorescence in situ hybridization for FOS and FOSB gene rearrangements were negative in the primary tumor as well as in the lung metastasis. Intrigued by the unique morphologic features of an AS masquerading as an EH, we expanded our study by analyzing mutations in EHs versus ASs using a targeted next-generation sequencing of 50 cancer-related genes. Seven EHs and 6 ASs including the present case were subjected to mutation analysis using the Ion AmpliSeq Cancer Hotspot Panel v2 assay of 50 cancer-related genes. The present case lacked mutation. Novel somatic variants were detected in 2 of 7 EHs and 1 of 6 ASs. Sorting intolerant from tolerant and polymorphism phenotyping analysis revealed benign/tolerated and deleterious variants in both tumor types. Deleterious variants TP53 c.707T>C (p.Tyr236Cys), FLT3 c.1995C>T (p.Met665Ile), and SMO c.1919C>T (p.Thr640Ile) were detected in EH, while AS revealed deleterious variant PTPN11 c.226G>A (p.Glu76Lys). Conclusions: We present an epithelioid AS mimicking EH. We report novel somatic variants in EHs and AS. Benign variants may not be associated with development of these tumors. Whereas, deleterious variants, especially PTPN11 c.226G>A, may be linked to tumorigenesis of AS.