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1.
Case Rep Womens Health ; 29: e00269, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33294388

ABSTRACT

Glomus tumor is an uncommon, benign, soft-tissue lesion in which the cells recapitulate the structure of the normal modified smooth muscle cells of the glomus body. Glomus tumors usually occur in tissues that normally contain glomus bodies; only rarely can they develop in sites where glomus bodies are normally sparse or absent. There are three subtypes of glomus tumor, with glomangiomyoma being the rarest. No more than 10 cases of glomus tumor in female genitalia have previously been reported, involving the vulva, vaginal area, periurethral area and clitoris. A clitoral glomangiomyoma is extremely rare. This is a case report of a glomangiomyoma in the clitoral area. Published reports of glomus tumor in the female external genitalia are reviewed.

2.
J Surg Oncol ; 122(8): 1755-1760, 2020 Dec.
Article in English | MEDLINE | ID: mdl-32926758

ABSTRACT

BACKGROUND: The treatment of advanced cutaneous head and neck cutaneous squamous cell carcinomas (HNcSCC) results in significant morbidity. Recently, immune checkpoint inhibitor treatment has been approved for DNA mismatch repair (MMR) deficient patients in a histology-agnostic manner. This study aims to evaluate the incidence of MMR deficiency in advanced HNcSCC and its association with clinicopathologic factors. METHODS: The cohort included 176 consecutive HNcSCC cases treated with curative intent. Immunohistochemistry for MMR proteins (hMLH1, hMSH2, hMSH6, and hPMS2) was performed. Clinicopathological and survival data was collected prospectively. RESULTS: The incidence of MMR protein deficiency was 9.1%. There was no association between age, incidence of metachronous malignancies, clinicopathological factors, or survival outcomes. CONCLUSION: A higher incidence of MMR deficiency was observed in this cohort of advanced HNcSCC. The lack of association with young age at onset or increased incidence of metachronous malignancies suggests that MMR deficiency is likely to be sporadic in HNcSCC.


Subject(s)
Biomarkers, Tumor/metabolism , Brain Neoplasms/epidemiology , Colorectal Neoplasms/epidemiology , DNA Mismatch Repair , DNA Repair Enzymes/metabolism , Neoplastic Syndromes, Hereditary/epidemiology , Skin Neoplasms/complications , Squamous Cell Carcinoma of Head and Neck/complications , Aged , Australia/epidemiology , Brain Neoplasms/metabolism , Brain Neoplasms/pathology , Colorectal Neoplasms/metabolism , Colorectal Neoplasms/pathology , Female , Follow-Up Studies , Humans , Incidence , Male , Neoplastic Syndromes, Hereditary/metabolism , Neoplastic Syndromes, Hereditary/pathology , Prognosis , Prospective Studies , Retrospective Studies , Survival Rate
3.
Pathology ; 51(7): 688-695, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31630878

ABSTRACT

An unexplained increase in the incidence of oral cavity squamous cell carcinoma (oSCC) has been observed despite decreasing smoking rates, particularly in younger patients. Links to defects in the DNA mismatch repair (MMR) system are well established in early onset colorectal, urothelial and gynaecological malignancies. MMR deficient patients treated with immune checkpoint inhibitors have demonstrated improved response rates. Studies exploring MMR status in head and neck squamous cell carcinoma (HNSCC) demonstrate conflicting results. This study explores the incidence of MMR protein loss and its association with clinicopathological features and outcome in oSCC. Immunohistochemical staining using tissue microarrays to assess the expression of MMR proteins (hMLH1, hMSH2, hMSH6, and hPMS2) was performed on 285 consecutive oSCC cases between 2000 and 2016. Data on smoking, alcohol and metachronous malignancies were retrospectively collected. Proportional hazards regression models were used to compare survival in MMR intact and deficient patients. MMR deficiency was seen in 21 patients (7.4%). MMR deficient tumours were associated with bone invasion (52% vs 32%, p=0.05), higher pT stage (pT4 in 57% vs 35%, p<0.001) and a higher number of metachronous malignancies (p=0.05). MMR deficiency was not associated with younger age at presentation or absence of smoking or alcohol. There was no significant association between MMR status and survival (overall survival hazard ratio 1.36; p=0.32). The incidence of MMR loss in oSCC is low and is not associated with young age at presentation. MMR deficiency in oSCC is associated with an increase in the number of metachronous malignancies and more advanced primary tumours.


Subject(s)
Biomarkers, Tumor/analysis , Brain Neoplasms/diagnosis , Carcinoma, Squamous Cell/diagnosis , Colorectal Neoplasms/diagnosis , Head and Neck Neoplasms/diagnosis , Mouth Neoplasms/diagnosis , Neoplastic Syndromes, Hereditary/diagnosis , Squamous Cell Carcinoma of Head and Neck/diagnosis , Aged , Brain Neoplasms/pathology , Carcinoma, Squamous Cell/pathology , Colorectal Neoplasms/pathology , DNA Mismatch Repair/genetics , DNA-Binding Proteins/analysis , Female , Head and Neck Neoplasms/pathology , Humans , Immunohistochemistry , Male , Middle Aged , Mismatch Repair Endonuclease PMS2/analysis , Mouth Neoplasms/pathology , MutL Protein Homolog 1/analysis , MutL Proteins/analysis , Neoplasm Proteins/analysis , Neoplasms , Neoplastic Syndromes, Hereditary/pathology , New South Wales , Prognosis , Retrospective Studies , Squamous Cell Carcinoma of Head and Neck/pathology
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