Muir–torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field

Yozu, Masato; Symmans, Pennie; Dray, Michael; Griffin, Jennifer; Han, Catherine; Ng, Daniel; Parry, Susan; Wong, KL

doi:10.1097/01.pat.0000426961.06488.f5

Cited by 3 publications

(5 citation statements)

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“…Undifferentiated pleomorphic/unclassifiable sarcoma accounted for eight cases and in one cases the subtype was not specified. 4,[26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42] While most studies referred to case reports or case series, Doyle and colleagues investigated the frequency of MMR deficiency in a cohort of 279 cases and identified 6 MMR deficient cases (2%). 26 In all these studies, seventeen patients had a germline mutation in one of the mismatch repair genes (Lynch syndrome n = 13; Muir-Torre syndrome n = 2; Constitutional Mismatch Repair Deficiency n = 2).…”

Section: I S M a T C H R E P A I R D E F I C I E N T B O N E A N D S O F T T I S S U E S A R C O M A S I N L I T E R A T U R Ementioning

confidence: 99%

Mismatch repair deficiency is rare in bone and soft tissue tumors

et al. 2021

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Introduction: There has been an increased demand for mismatch repair (MMR) status testing in sarcoma patients after the success of immune checkpoint inhibition (ICI) in MMR deficient tumors. However, data on MMR deficiency in bone and soft tissue tumors is sparse, rendering it unclear if routine screening should be applied. Hence, we aimed to study the frequency of MMR deficiency in bone and soft tissue tumors after we were prompted by two (potential) Lynch syndrome patients developing sarcomas. Methods: Immunohistochemical expression of MLH1, PMS2, MSH2 and MSH6 was assessed on tissue micro arrays (TMAs), and included 353 bone and 539 soft tissue tumors. Molecular data was either retrieved from reports or microsatellite instability (MSI) analysis was performed. In MLH1 negative cases, additional MLH1 promoter hypermethylation analysis followed. Furthermore, a systematic literature review on MMR deficiency in bone and soft tissue tumors was conducted. Results: Eight MMR deficient tumors were identified (1%), which included four leiomyosarcoma, two rhabdomyosarcoma, one malignant peripheral nerve sheath tumor and one radiation-associated sarcoma. Three patients were suspected for Lynch syndrome. Literature review revealed 30 MMR deficient sarcomas, of which 33% were undifferentiated/unclassifiable sarcomas. 57% of the patients were genetically predisposed. Conclusion: MMR deficiency is rare in bone and soft tissue tumors. Screening focusing on tumors with myogenic differentiation, undifferentiated/unclassifiable sarcomas and in patients with a genetic predisposition / co-occurrence of other malignancies can be helpful in identifying patients potentially eligible for ICI.

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Section: I S M a T C H R E P A I R D E F I C I E N T B O N E A N D S O F T T I S S U E S A R C O M A S I N L I T E R A T U R Ementioning

confidence: 99%

Mismatch repair deficiency is rare in bone and soft tissue tumors

et al. 2021

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“…Most families with MTS also have pathological variants in MSH2 and MLH1 [ 3 ], and about three-fourth patients belonging to a families with the MSH2 gene c.942 + 3 A > T PGV are diagnosed with MTS [ 4 ]. Interestingly, our patient has an MLH1 PGV, whereas all five previously reported sarcomas with MTS harbored the MSH2 variant (Table 1 ) [ 5 , 9 – 11 ]. Therefore, we reported the case of MTS-related myxofibrosarcoma in a carrier of the MLH1 PGV, a finding that differed from the cases described in previous reports.…”

Section: Discussionmentioning

confidence: 71%

“…Only one LS-related myxofibrosarcoma has been reported with an MLH1 germline variant ( MLH1 c.678-7_686del16) [ 17 ]. MTS-related sarcoma is extremely rare, and only five cases have been reported in the literature, including undifferentiated pleomorphic sarcoma, pleomorphic liposarcoma, osteosarcoma, and two sarcomas (not specified) (Table 1 ) [ 5 , 9 – 11 ]. To our knowledge, this is the first case of a high-grade myxofibrosarcoma of the abdominal wall associated with MTS.…”

Section: Discussionmentioning

confidence: 99%

“…Internal malignancies associated with LS and MTS include colorectal, endometrial, ovarian, small intestinal, and genitourinary malignancies [ 1 ]. Sarcomas are not considered part of the common LS tumor spectrum, and only occasional LS-associated sarcomas have been reported [ 5 – 9 ]. Furthermore, soft tissue sarcomas associated with MTS are extremely uncommon, and myxofibrosarcoma associated with MTS has not been previously reported [ 5 , 9 – 11 ].…”

Section: Introductionmentioning

confidence: 99%

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Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

Nakagawa

Kobayashi²,

Yamada

et al. 2021

Hered Cancer Clin Pract

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Background Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor spectrum, and sarcomas associated with MTS are extremely rare. Case presentation Here we report a myxofibrosarcoma of the abdominal wall in a 73-year-old man with a sebaceoma that occurred synchronically, leading to a diagnosis of MTS. The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. A germline genetic analysis revealed that he harbored the MLH1 PGV. Conclusions This is the first case of MSI-H myxofibrosarcoma with MTS in an MLH1 PGV carrier. Although rare, we should recognize that sarcomas can be part of the spectrum of LS and MTS.

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“…Visceral malignancies most commonly seen with MTS include colorectal adenocarcinomas and genitourinary malignancies [2], while sebaceous adenomas, epitheliomas and carcinomas constitute the common dermatologic neoplastic conditions usually associated with MTS [2]. Due to its association with germline mutations in the DNA mismatch repair genes MLH1 and MLH2, which occur secondary to DNA microsatellite instability, MTS is considered as a small phenotypic subset of Lynch syndrome [3]. MTS is an exceedingly rare condition, with a high degree of variability in its penetration and expression [4].…”

Section: Introductionmentioning

confidence: 99%

Long-Standing Course of Disease in a Patient with Muir-Torre Syndrome

Al-Shamsi¹

2018

JOJCS

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Muir–torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field

Cited by 3 publications

References 0 publications

Mismatch repair deficiency is rare in bone and soft tissue tumors

Mismatch repair deficiency is rare in bone and soft tissue tumors

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

Long-Standing Course of Disease in a Patient with Muir-Torre Syndrome

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