Conjunctival Myxoid Lesions: Clinical-Pathologic Multiparametric Analysis, Including Molecular Genetics (An American Ophthalmological Society Thesis)

Milman, Tatyana; Salomão, Diva R.; Ida, Cristiane M.; Correa, Daniel R. Capiz; Grossniklaus, Hans E.; Zhang, Qiang; Hamershock, Rose; Shields, Carol L.; Shields, Jerry A.; Raber, Irving M.; Rapuano, Christopher J.; Patel, Riddhi; Eagle, Ralph C.

doi:10.1016/j.ajo.2019.04.027

Cited by 14 publications

(32 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A few case reports followed confirming those associations [19, 20]. Other ocular lesions seen in patients with CNC are conjunctival myxomas [7, 21, 22] and rarely uveal melanotic schwannomas [23].…”

Section: Discussionmentioning

confidence: 86%

“…A summary of the chromosomal changes is shown in Table 1. The known and poten- tially relevant genes for a case of uveal melanoma are listed in parentheses: chromosomes 1, 2 (including the CNC2 and SF3B1 genes), 14 (including the KTN1 gene), 17 (including the PRKAR1A gene), 18,19,21,22 (including the TTC28 gene), and X (including the EI-F1AX gene). Low-level monosomy 7 and trisomy 8 (including the MYC gene) were also noted, suggesting the presence of a subclonal cell population.…”

Section: Molecular Studiesmentioning

confidence: 99%

“…The tumor did not recur or metastasize after almost 10 years of follow-up, and the patient died of unrelated causes. Molecular studies revealed a complex genome with multiple whole-chromosome losses including monosomy of chromosomes 1, 2 (including loss of CNC2 at 2p16), 14, 17 (including loss of a copy of PRAKA1 at 17q24.2), 18,19,21,22, and X. No monosomy 3 was observed.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex – Another Rare Component of the Syndrome?

et al. 2020

View full text Add to dashboard Cite

• Carney complex (CNC) is a rare autosomal dominant syndrome characterized by pigmented lesions of the skin, mucosa, myxomatous tumors and multiple other endocrine and non-endocrine neoplasms. • A number of ocular lesions have been described in patients with CNC. Novel Insights • This is the second reported case of uveal melanoma arising in a patient with CNC. • This case should raise awareness for the possibility of another tumor associated with Carney syndrome.

show abstract

Section: Discussionmentioning

confidence: 86%

Section: Molecular Studiesmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex – Another Rare Component of the Syndrome?

et al. 2020

View full text Add to dashboard Cite

show abstract

“…42 CFM and OFM, in particular, share notable morphological and immunohistochemical overlap with neoplastic myxoma. 38,42,43 Both lesions present with fusiform fibroblasts dispersed in a myxomatous stroma containing mast cells, collagen fibers, and delicate blood vessels. The helpful morphological findings that differentiate CFM/OFM from myxoma include non-infiltrative growth patterns, superficial location, lesion size, and the presence of fragmented and randomly arranged ropey collagen fibers, 38,42 similar to the lesions in our series.…”

Section: F I G U R E 2 Macroscopic Appearance Of Oral Focal Mucinosismentioning

confidence: 97%

Oral focal mucinosis: A multi‐institutional study and literature review

et al. 2020

View full text Add to dashboard Cite

Background: Oral focal mucinosis (OFM) is a rare benign condition of unknown etiology, considered the oral counterpart of cutaneous focal mucinosis. We report the clinicopathologic features of 21 cases of OFM in conjunction with a review of the literature. Methods: Clinical data were collected from the records of five oral and maxillofacial pathology services. All cases were evaluated by hematoxylin and eosin staining, histochemistry, and immunohistochemistry (vimentin, S-100, α-SMA, CD34, and mast cell). Results: The series comprised 14 females (66.7%) and seven males (33.3%), with a mean age of 48.2 ± 20.7 years (range: 8-77 years) and a 2:1 female-to-male ratio. Most of the lesions affected the gingiva (n = 6, 28.6%) and presented clinically as asymptomatic sessile or pedunculated nodules with fibrous or hyperplasic appearance. All cases were negative for S-100 protein, CD34, and α-SMA and positive for Alcian blue staining. Conservative surgical excision was the treatment in all cases, and there was only one recurrence. Conclusion: OFM is a rare benign disorder that is often clinically misdiagnosed as reactive lesions or benign proliferative processes. Dermatologists and pathologists should consider OFM in the differential diagnosis of soft tissue lesions in the oral cavity, mainly located in the gingiva. K E Y W O R D S connective tissue diseases, diagnosis, oral focal mucinosis, oral pathology 1 | INTRODUCTION Oral focal mucinosis (OFM) is considered to be the oral counterpart of cutaneous focal mucinosis (CFM) that likely develops due to an overproduction of hyaluronic acid by fibroblasts. 1-3 As a result, a well-demarcated myxomatous tissue positive for Alcian blue (pH 2.5) is observed microscopically; which may mimic other oral myxoid lesions, such as soft-tissue myxoma, fibrous hyperplasia with myxoid degeneration, nerve sheath myxoma (NSM), myxoid neurofibroma, and mucocele. 1

show abstract

“…However, there is controversy concerning some histopathological and immunohistochemical features of CM and COST. Milman and colleagues 5 performed a clinical-pathological multiparametric analysis in patients with CM, COST, and reactive fibromyxoid proliferation and found that all the specimens studied showed strong and diffuse immunoreactivity for CD34; concluding that there were no significant histopathologic and immunohistochemical differences between lesions diagnosed with CM and COST.…”

mentioning

confidence: 99%

Conjunctival Stromal Tumor: Is It a New Entity or a Part of the Myxoid Spectrum?

2021

View full text Add to dashboard Cite

Conjunctival Myxoid Lesions: Clinical-Pathologic Multiparametric Analysis, Including Molecular Genetics (An American Ophthalmological Society Thesis)

Cited by 14 publications

References 27 publications

Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex – Another Rare Component of the Syndrome?

Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex – Another Rare Component of the Syndrome?

Oral focal mucinosis: A multi‐institutional study and literature review

Conjunctival Stromal Tumor: Is It a New Entity or a Part of the Myxoid Spectrum?

Contact Info

Product

Resources

About