Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome

Ponti, Giovanni; Manfredini, Marco; Pellacani, Giovanni; Tomasi, Aldo

doi:10.1515/cclm-2015-1210

Cited by 8 publications

(6 citation statements)

References 43 publications

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“…DNA microsatellite instability (MSI) is a form of genomic instability related to the impaired DNA mismatch repair (MMR) system in tumors [73]. MSI has become a symbol of particular tumors, including for those related to colorectal cancer [20] and intestinal neoplasia [60].…”

Section: Effects Of Myosins On Genetic or Chromosomal Instabilitymentioning

confidence: 99%

Myosins as fundamental components during tumorigenesis: diverse and indispensable

Yang

2016

Oncotarget

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Myosin is a kind of actin-based motor protein. As the crucial functions of myosin during tumorigenesis have become increasingly apparent, the profile of myosin in the field of cancer research has also been growing. Eighteen distinct classes of myosins have been discovered in the past twenty years and constitute a diverse superfamily. Various myosins share similar structures. They all convert energy from ATP hydrolysis to exert mechanical stress upon interactions with microfilaments. Ongoing research is increasingly suggesting that at least seven kinds of myosins participate in the formation and development of cancer. Myosins play essential roles in cytokinesis failure, chromosomal and centrosomal amplification, multipolar spindle formation and DNA microsatellite instability. These are all prerequisites of tumor formation. Subsequently, myosins activate various processes of tumor invasion and metastasis development including cell migration, adhesion, protrusion formation, loss of cell polarity and suppression of apoptosis. In this review, we summarize the current understanding of the roles of myosins during tumorigenesis and discuss the factors and mechanisms which may regulate myosins in tumor progression. Furthermore, we put forward a completely new concept of “chromomyosin” to demonstrate the pivotal functions of myosins during karyokinesis and how this acts to optimize the functions of the members of the myosin superfamily.

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Section: Effects Of Myosins On Genetic or Chromosomal Instabilitymentioning

confidence: 99%

Myosins as fundamental components during tumorigenesis: diverse and indispensable

Yang

2016

Oncotarget

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“…Several studies highlighted the importance of MMR protein IHC screening in SNs 21,22 . These studies emphasized the importance of genetic referral for further evaluating high‐risk individuals 23 …”

Section: Discussionmentioning

confidence: 99%

Muir–Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations

Shaker,

Abid

et al. 2023

Journal of Surgical Oncology

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BackgroundMuir–Torre syndrome (MTS) is a rare genetic disorder that is caused by mismatch repair (MMR) protein mutations. MTS increases the risk of developing skin and gastrointestinal tumors such as sebaceous adenomas (SAs), sebaceous carcinomas, colorectal cancer, endometrial cancer, and ovarian cancer. The risk of developing these types of tumors varies depending on the involved mutation and the individual's family history risk.Case PresentationA 47‐year‐old male presented with multiple skin lesions on the scalp, face, flank, and back. The examination revealed well‐circumscribed, dome‐shaped papules with a yellowish appearance with white oily material in the center. Histopathologic examination showed a well‐circumscribed sebaceous neoplasm consistent with a mixture of basaloid cells and lobules of bland‐appearing mature adipocytes that communicate directly to the surface epithelium. Focal cystic changes and peritumoral lymphocytic infiltrate were noted. Increased mitotic figures were seen in the basaloid cell component. The overall findings were consistent with the diagnosis of SAs. MMR staining showed preserved expression in MLH1 and PMS2 proteins, while MSH2 and MSH6 staining showed loss of protein expression. A screening colonoscopy showed numerous colon and rectal tumors, prompting concerns about the likelihood of MTS. Surgical intervention was pursued for complete resection. Histology revealed a diagnosis of mucinous adenocarcinoma/adenocarcinoma with mucinous features of the colon. The diagnosis of MTS was supported by molecular testing that revealed MSH2 germline mutation. The increased likelihood of MTS was attributed to the occurrence of SAs in unusual locations of the head and neck regions, unlike typical cases.ConclusionMTS is a rare clinical condition that necessitates prompt thorough evaluation and periodic surveillance. When SA is encountered in atypical locations, it is important to consider additional testing supported by immunohistochemical staining, molecular testing, and regular screening to exclude the likelihood of MTS.

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“…Rzadko, głównie u biorców przeszczepów, opisywano również odmianę sporadyczną zespołu. Nie współistnieje polipowatość jelit i raki nie rozwijają się z polipów [22,23].…”

Section: Zespół Cowdenunclassified

Dermatologic symptoms associated with gastrointestinal neoplasia

Młynarczyk-Bonikowska¹,

Muszyński²,

Majewski³

2017

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StreSzczenieNowotwory układu pokarmowego należą do najczęściej występujących chorób i są również jedną z najczęstszych nowotworowych przyczyn zgonów na świecie. Obecność charakterystycznych zmian skórnych pozwala na szybsze rozpoznanie i leczenie, a tym samym zwiększenie prawdopodobieństwa wyleczenia. W artykule przedstawiono najważ-niejsze skórne zespoły paraneoplastyczne, które mogą współistnieć z nowotworami przewodu pokarmowego, w tym rakiem jelita grubego, żołądka i przełyku oraz trzustki. Uwzględniono zespoły uwarunkowane genetycznie, takie jak zespół Cowden, zespół rodzinnie występu-jących licznych znamion atypowych -czerniak lub rak trzustki, zespoły Clarke Howela-Evansa, Peutza-Jeghersa, Muira-Torrego, Gardnera, zespoły nabyte, takie jak rogowacenie ciemne złośliwe, zespół tripe palms, Lesera-Trelat, Bazexa, hypertrichosis lanuginosa, erythema gyratum repens, zespół rakowiaka, zespół glukagonoma, a także przerzuty nowotworowe do skóry oraz nowotwory w niektórych przypadkach zapalenia skórno-mięśniowego. AbStrActGastrointestinal tumors are among the most common neoplastic causes of death worldwide. Presence of characteristic skin lesions can allow faster diagnosis and therapy and this way can increase the probability of a cure. In the paper we present the most important paraneoplastic syndromes that can coexist with gastrointestinal malignancy including colon, gastric, esophagus and pancreatic cancers. We take into account genetic syndromes such as Cowden syndrome, familial atypical multiple mole melanoma syndrome (FAMMM) (melanoma/pancreatic cancer), Clarke Howel-Evans, Peutz-Jeghers, Muir-Torre, Gardner syndromes and acquired syndromes such as acantosis nigricans maligna, tripe palms, Leser-Trelat, Bazex, hypertrichosis languinosa, erythema gyratum repens, carcinoid and glucagonoma syndrome. We also include cutaneous metastases and coexistence of neoplasia in some cases of dermatomyositis.

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Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome

Cited by 8 publications

References 43 publications

Myosins as fundamental components during tumorigenesis: diverse and indispensable

Myosins as fundamental components during tumorigenesis: diverse and indispensable

Muir–Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations

Dermatologic symptoms associated with gastrointestinal neoplasia

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