Cure Alveolar Soft Part Sarcoma International (iCureASPS)

Alveolar soft part sarcoma (ASPS) represents <1% of all soft tissue sarcomas and harbors the ASPSCR1-TFE3 translocation, which is found in pediatric renal cell carcinomas arising after chemotherapy. We present the case of a female patient, treated for metastatic retinoblastoma (Rb) with surgery, radiation, and chemotherapy at age 21 months, who was diagnosed with ASPS of the bladder 5 years later when imaging revealed a polypoid mass arising from the left bladder wall. Endoscopic biopsy and tumor resection were performed. After histopathologic confirmation of ASPSCR1-TFE3 fusion-positive ASPS, negative margins were achieved with wide local excision. At 18 months post-surgery, she remains recurrence-free.


https://www.sciencedirect.com/science/a ... 6617302282

Found this interesting
Second paragraph in discussion


“There has been one published case of primary ASPS in the bladder, positive for the ASPSCR1-TFE3 fusion, which was diagnosed in a 25-year-old woman with no previous cancer history [2]. This patient case is an exceedingly rare instance of ASPS as a secondary malignancy after cytotoxic chemotherapy. Reports of tumors with balanced translocations of the TFE3 gene after chemotherapy, including ASPSCR1-TFE3, PRCC-TFE3 and Alpha-TFEB, highlight the contribution of these fusions to secondary malignancies [10]. These rearrangements are most common in pediatric renal cell carcinomas (RCCs) and are present in nearly half of such cases [11]. Other types of reported TFE3 translocation-positive secondary malignancies include perivascular epithelioid cell tumor, mammary analogue secretory carcinoma of the parotid, and acute leukemias [12,13].”

As well as the following paragraph


“Retinoblastoma survivors often develop secondary malignancies. In particular, the hereditary form of retinoblastoma with germline mutations in the Rb-1 tumor suppressor gene confers a significantly increased risk of developing sarcomas, melanomas, cancer of the brain or nasal cavities, eye, orbit, and lung. Radiation therapy increases this risk [14]. An increased incidence of common epithelial cancers (eg, bladder, lung, breast) have also been observed, typically after decades of follow-up [15]. However, nonhereditary retinoblastoma is not associated with secondary malignancy. In a study of 1601 retinoblastoma survivors, the cumulative incidence of a secondary malignancy 50 years after diagnosis was 36% for patients with hereditary retinoblastoma and 5.7% for those with nonhereditary retinoblastoma [14]. Molecular testing revealed no germline or somatic RB1 mutations in the patient's ASPS tumor. Together, these data suggest our patient's ASPS resulted from a driver other than RB1.”

D.ap wrote: ↑Sun Dec 31, 2017 9:47 am Found this interesting
Second paragraph in discussion


“There has been one published case of primary ASPS in the bladder, positive for the ASPSCR1-TFE3 fusion, which was diagnosed in a 25-year-old woman with no previous cancer history [2]. This patient case is an exceedingly rare instance of ASPS as a secondary malignancy after cytotoxic chemotherapy. Reports of tumors with balanced translocations of the TFE3 gene after chemotherapy, including ASPSCR1-TFE3, PRCC-TFE3 and Alpha-TFEB, highlight the contribution of these fusions to secondary malignancies [10]. These rearrangements are most common in pediatric renal cell carcinomas (RCCs) and are present in nearly half of such cases [11]. Other types of reported TFE3 translocation-positive secondary malignancies include perivascular epithelioid cell tumor, mammary analogue secretory carcinoma of the parotid, and acute leukemias [12,13].”

In particular, the hereditary form of retinoblastoma with germline mutations in the Rb-1 tumor suppressor gene confers a significantly increased risk of developing sarcomas, melanomas, cancer of the brain or nasal cavities, eye, orbit, and lung.

https://cureasps.org/forum/viewtopic.ph ... titutional#

D.ap wrote: ↑Sat Jun 03, 2017 10:22 am Oncologist report

Dear Editor,

DNA mismatch repair (MMR) is a system for recognizing and repairing errors, which occur during DNA replication and recombination. Biallelic deleterious germline mutations in MMR genes (MLH1, MSH2, MSH6, and PMS2) lead to constitutional MMR deficiency syndrome (CMMR-D).[1]

We are reporting two cases of CMMR-D in siblings of a family, who developed acute lymphoblastic leukemia (ALL) with glioblastoma multiforme and ALL with alveolar soft part sarcoma (ASPS) (first case in CMMR-D spectrum) respectively.[2]

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5379899/