The potential of using artificial intelligence to improve skin cancer diagnoses in Hawai'i's multiethnic population.

Skin cancer remains the most commonly diagnosed cancer in the USA with more than 1 million new cases each year. Melanomas account for about 1% of all skin cancers and most skin cancer deaths. Multiethnic individuals whose skin is pigmented underestimate their risk for skin cancers and melanomas and may delay seeking a diagnosis. The use of artificial intelligence may help improve the diagnostic precision of dermatologists/physicians to identify malignant lesions. To validate our artificial intelligence's efficiency in distinguishing between images, we utilized 50 images obtained from our International Skin Imaging Collaboration dataset (n = 25) and pathologically confirmed lesions (n = 25). We compared the ability of our artificial intelligence to visually diagnose these 50 skin cancer lesions with a panel of three dermatologists. The artificial intelligence model better differentiated between melanoma vs. nonmelanoma with an area under the curve of 0.948. The three-panel member dermatologists correctly diagnosed a similar number of images (n = 35) as the artificial intelligence program (n = 34). Fleiss' kappa (ĸ) score for the raters and artificial intelligence indicated fair (0.247) agreement. However, the combined result of the dermatologists panel with the artificial intelligence assessments correctly identified 100% of the images from the test data set. Our artificial intelligence platform was able to utilize visual images to discriminate melanoma from nonmelanoma, using de-identified images. The combined results of the artificial intelligence with those of the dermatologists support the use of artificial intelligence as an efficient lesion assessment strategy to reduce time and expense in diagnoses to reduce delays in treatment.

Recurrent papillary thyroid carcinoma with pleural metastasis diagnosed by effusion cytology: a report of cases with clinicopathologic correlation.

Papillary thyroid carcinoma (PTC) is typically an indolent disease characterized by slow growth and a favorable prognosis. In rare instances, this disease may metastasize to the pleura and manifest as a malignant pleural effusion. We report 3 female patients of Japanese/Okinawan ancestry with a history of PTC who presented with hydrothorax. Cytologic examination in conjunction with immunohistochemical staining enabled a definitive diagnosis of metastatic PTC. Molecular analysis of the mitogen activated protein kinase (MAPK) and phosphatidylinositol 3-kinase (PI3K) pathways demonstrated the presence of the v-raf murine sarcoma viral oncogene homolog B (BRAF)(V600E) mutation in 2 of our 3 patients, with the absence of any other clinically significant mutations in all cases. Further investigation is necessary to elucidate the molecular and environmental mechanisms involved in this aggressive manifestation of PTC.

A cutaneous interstitial granulomatous dermatitis-like eruption arising in myelodysplasia with leukemic progression.

Cutaneous manifestations associated with myelodysplastic syndromes (MDS) are uncommon and can occur as specific or nonspecific lesions. Recognizing these cutaneous manifestations is important as they can precede blood or bone marrow transformation to leukemia. Granulomatous reactions have rarely been described as nonspecific lesions of MDS. These rare cases histologically resembled granuloma annulare, sarcoid, and a generalized dermal interstitial granulomatous dermatitis (IGD) which were not associated with leukemic infiltration. The authors report an interesting case of an IGD-like eruption evolving over the course of MDS with eventual progression to systemic leukemia. IGD is an inflammatory reaction that refers to a varied spectrum of histologic patterns and is associated with a variety of systemic illnesses and hypersensitivity reactions, including lymphoma and leukemia. In patients with MDS, surveillance for leukemia is a critical component of their follow-up care. Normally, this surveillance occurs through serial peripheral blood smears and bone marrow studies. IGD-like eruptions are a cutaneous reaction pattern that may serve as an additional clinical indicator of leukemic progression in patients with MDS. Although primarily a reactive pattern, this entity can rarely harbor leukemic blasts.

BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs.

BACKGROUND: BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21. Germline BAP1 mutations have been recently associated with an increased risk of malignant mesothelioma, atypical melanocytic tumors and other neoplasms. To answer the question if different germline BAP1 mutations may predispose to a single syndrome with a wide phenotypic range or to distinct syndromes, we investigated the presence of melanocytic tumors in two unrelated families (L and W) with germline BAP1 mutations and increased risk of malignant mesothelioma. METHODS: Suspicious cutaneous lesions were clinically and pathologically characterized and compared to those present in other families carrying BAP1 mutations. We then conducted a meta-analysis of all the studies reporting BAP1-mutated families to survey cancer risk related to the germline BAP1 mutation (means were compared using t-test and proportions were compared with Pearson χ2 test or two-tailed Fisher's exact test). RESULTS: Melanocytic tumors: of the five members of the L family studied, four (80%) carried a germline BAP1 mutation (p.Gln684*) and also presented one or more atypical melanocytic tumors; of the seven members of W family studied, all carried a germline BAP1 mutation (p.Pro147fs*48) and four of them (57%) presented one or more atypical melanocytic tumors, that we propose to call "melanocytic BAP1-mutated atypical intradermal tumors" (MBAITs). Meta-analysis: 118 individuals from seven unrelated families were selected and divided into a BAP1-mutated cohort and a BAP1-non-mutated cohort. Malignant mesothelioma, uveal melanoma, cutaneous melanoma, and MBAITs prevalence was significantly higher in the BAP1-mutated cohort (p ≤ 0.001). CONCLUSIONS: Germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and MBAITs, and possibly by other cancers. MBAITs provide physicians with a marker to identify individuals who may carry germline BAP1 mutations and thus are at high risk of developing associated cancers.

Immunohistochemical expression of cyclooxygenage-2 in melanocytic skin lesions.

BACKGROUND: Several reports have shown expression of cyclooxygenase-2 (COX-2) in malignant skin tumors. COX-2 has also recently been reported as a marker of malignant melanoma (MM). OBJECTIVE: Our aim was to investigate whether there is a difference in the immunohistochemical expression of COX-2 between malignant and benign melanocytic lesions of the skin. METHODS: We selected 40 archival cases of MM including 10 cases of superficial spreading melanoma, 10 of lentigo maligna melanoma, 10 of nodular melanoma, and 10 of acral lentiginous melanoma. For comparison, we also selected 35 benign melanocytic lesions, which included 15 nonatypical nevi and 10 atypical nevi. The remaining 10 cases were Spitz nevi. COX-2 immunohistochemical staining was performed, and intensities were assessed quantitatively. RESULTS: The MM group and the benign melanocytic nevi group showed a highly statistically significant difference in the intensity of COX-2 expression (P < 0.0001). Staining intensity in the dermal component of MM cases also showed a tendency to increase with increasing tumor depth. By contrast, the intensity of the dermal component in the melanocytic nevi group decreased with increasing depth as the nevus cells matured from type A to type C cells. No statistical difference was noted between the MM and Spitz nevi cases (P = 0.20). CONCLUSIONS: Malignant melanoma shows stronger immunohistochemical expression of COX-2 than benign melanocytic nevi. Although COX-2 cannot be used alone to differentiate MM from melanocytic nevi, it may serve as an aid in the differential diagnosis of melanocytic skin lesions.

The association of dermatitis herpetiformis and systemic lupus erythematosus.

Dermatitis herpetiformis (DH) is an immune-mediated cutaneous disease occasionally associated with celiac disease, but rarely associated with systemic lupus erythematosus (SLE). The combination of DH and SLE is immunologically mediated and suggests a relationship between the two conditions. We describe a woman with DH and SLE with a novel HLA phenotype.

Primary cutaneous Richter syndrome: prognostic implications and review of the literature.

The term Richter syndrome (RS) describes the transformation of chronic lymphocytic leukemia into a high-grade lymphoma. RS occurs in 3% to 10% of chronic lymphocytic leukemia cases, and its onset is often characterized by the abrupt development of systemic symptoms (eg, fever in the absence of infection, night sweats, and weight loss), progressive lymphadenopathy, and hepatosplenomegaly. RS frequently arises in the lymph nodes or bone marrow, and rarely presents with extranodal involvement, which includes the gastrointestinal tract, eye, testis, central nervous system, lung, kidney, and skin. We review the literature regarding the clinical course and treatment of RS, present a patient with primary cutaneous RS, and discuss the prognostic implications.

Proliferative characterization of basal-cell carcinoma and trichoepithelioma in small biopsy specimens.

We examined the proliferative characteristics of 20 basal-cell carcinomas (BCCs) and 16 trichoepitheliomas (TEps) in an effort to understand and explore possible differences in their tumorigenic cell-cycle properties. These tumors were first compared for their expression of the nuclear proliferative protein Ki-67 and the tumor suppressor protein p53. We also compared the p53 downstream effector, p21(waf-1/cip-1), an inhibitor of cyclin-dependent kinases. The other p53-dependent, cyclin-dependent kinase inhibitor, p27(kip-1), has shown to be increased in TEps, which is consistent with this benign neoplasm's better-differentiated state. In our findings, we confirmed through immunohistochemical staining for Ki-67 that BCCs qualitatively showed a greater proliferative fraction compared to TEps (50.0 vs. 13.0%, p < 0.00001) as well as over-expression of p53 (2+ vs. 1+, p < 0.0008). BCCs marked by p21 demonstrated scattered nuclear positivity compared to the virtual absence of staining in the TEps (p < 0.019). In studying their cell-cycle properties, our findings suggest that abnormalities in the p53 pathway allow BCCs to obtain a growth advantage. We show that Ki-67 and p53 staining both appear useful in resolving challenging differential diagnoses and thereby help in directing appropriate treatment strategies.

Case report: Nocardia asteroides mycetoma.

Primary cutaneous infections with Nocardia asteroides are rare and have been reported in immunocompromised patients. Herein, we report a case of primary cutaneous Nocardia asteroides mycetoma of the skin in an immunocompetent individual. The infection was treated successfully with trimethoprim-sulfamethoxazole. Because a prolonged incubation time is required for the cultures and since additional biochemical tests are necessary for identification of this species, the clinician should alert the microbiology laboratory when such an infection is suspected clinically.

Inflammatory arthritis secondary to metastatic gastric cancer.

Metastatic spread of malignancy to the joints is rare and only a few cases of solid tumors have been reported. We describe a patient with inflammatory arthritis of the knee and ankle secondary to metastatic gastric adenocarcinoma to the joints and bone diagnosed by synovianalysis. Arthritis secondary to metastatic cancer is a poor prognostic sign. The diagnosis is based on a strong clinical suspicion, magnetic resonance imaging, and joint fluid cytology or synovial biopsy.