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Clinical application of fluorescence in situ hybridization in the diagnosis and management of melanocytic lesions
P6825
P6105
Bilateral nevus of Ota and nevus of Ito Mariana Spedo, MD, Mariana Abrahao Spedo, S~ao Paulo, Brazil; Cristiane Otani, MD, Cristiane Volpe Otani, S~ao Paulo, Brazil; Daniel Amaral, MD, Daniel Lauer Spinola do Amaral, S~ao Paulo, Brazil; Leonidas Junior, MD, Leonidas Santos de Lara Junior, S~ao Paulo, Brazil; Natacha Vasconcellos, MD, Natacha Rivas Vasconcellos, S~ao Paulo, Brazil; Ricardo Villa, MD, Ricardo Tadeu Villa, S~ao Paulo, Brazil; Valcinir Bedin, MD, PhD, Valcinir Bedin, S~ao Paulo, Brazil
Clinical and dermatoscopic characteristics of desmoplastic melanomas Lucy Chen, Memorial Sloan-Kettering Cancer Center, New York, NY, United States; Ashfaq Marghoob, MD, Memorial Sloan-Kettering Cancer Center, New York, NY, United States; Klaus Busam, MD, Memorial Sloan Kettering Cancer Center, New York, NY, United States; Natalia Jaimes, MD, Memorial SloanKettering Cancer Center, New York, NY, United States; Stephen Dusza, Memorial Sloan-Kettering Cancer Center, New York, NY, United States
Background: Nevus of Ota is a brown blue melanocytic macule that appears on the first 2 branches of the trigeminal innervated part of the face and on the sclera. In 60% of cases, it appears during childhood, in the first year, and is more prevalent in asian women. It may be classified in 4 four types and bilateral case is known as type 4. Nevus of Ito is a brownish melanocytic macule usually located in the scapular, deltoid, supraclavicular and neck regions. Case report: A 47-year-old woman reports asymptomatic grayish brown macule on malar, periorbital and frontal regions bilaterally distributed for 25 years. She also reports light brown macules on bilateral scapular and retroauricular areas that appeared several years ago. Patient is under treatment for glaucoma. Dermatologic examination also revealed bilateral ocular grayish brown pigmentation. Histopathologic examination of both lesions revealed dendritic melanocytes in reticular dermis. Conclusion: Association of bilateral nevus of Ota and bilateral nevus of Ito is extremely rare and there are still no accurate data of its real incidence. Dermatologic and ophthalmologic follow-up is needed since there is a higher risk of glaucoma and melanoma development. The recommended treatment is Q-switched ruby or Q-switched Nd-Yag laser.
Background: The recognition of desmoplastic melanoma (DM) remains a diagnostic challenge for clinicians and pathologists.
Commercial support: None identified.
Objective: To describe and analyze the clinical and dermatoscopic characteristics of desmoplastic melanoma (DM) as a function of pathology subtype and phenotypic traits. Methods: DM cases confirmed by histopathology were included based on availability of a high-quality dermatoscopic image. Cases were selected from 8 high-risk dermatology clinics. Demographics, clinical, dermatoscopic, and histopathologic information were analyzed. Descriptive frequencies were calculated for clinical characteristics and dermatoscopic features that were present in the clinical and dermatoscopic images. Results: A total of 37 DM cases were identified. The majority of patients had fair skin, few nevi and no personal or family history of melanoma. Lentigo maligna (LM) was the most frequent subtype of melanoma associated with DM, followed by superficial spreading melanoma (SSM). The most frequent clinical presentation of DMs was a palpable and/or indurated lesion, with irregular and ill-defined borders, located on sun-exposed skin. Dermatoscopically, 43% revealed network or globules; however, all DMs had at least 1 melanoma-specific structure, the most frequent being atypical vascular structures. Forty-three percent of cases were classified as pure DM (PDM) and 57% as mixed DM (mDM). pDM were thicker than mDM (4.10 mm vs 2.83 mm; P ¼ .22), and were less likely to have an associated epidermal non-DM component (63% vs 100%; P ¼ .004). Patients with pDM were less likely to have a history of nonmelanoma skin cancer than patients with mDM. The presence of granularity was more frequent in pDM (44% pDM vs 24% mDM; P ¼ .29). Crystalline structures, polymorphous vessels, and vascular blush were more commonly seen in mDM than in pDM. Conclusion: Though DM can be difficult to diagnose based on clinical morphology alone, dermatoscopy has proved to be a useful aid during the evaluation of clinically equivocal DMs or those DMs displaying a banal appearance. The most common dermatoscopic clues observed in DMs include atypical vascular structures, peppering, and occasionally other melanoma-specific structures. Commercial support: None identified.
P6484 P5919 BRAF-positive folliculotropic metastatic melanoma Katherine Brick, MD, Mayo Clinic, Rochester, MN, United States; Kevin Halling, MD, PhD, Mayo Clinic, Rochester, MN, United States; Margot Peters, MD, Mayo Clinic, Rochester, MN, United States; Yulia Khan, MD, Mayo Clinic, Rochester, MN, United States Primary cutaneous folliculotropic melanoma has been described in fewer than 10 patients, and there are only 3 published cases of folliculotropic metastases. We report a 54-year-old man with history of primary cutaneous nodular melanoma at the right posterior shoulder, Breslow depth 3.4 mm, stage IIIA (T3b, N1a, M0) with one positive sentinel lymph node, negative full axillary dissection, and no metastases at initial staging. Two years later he presented with an asymptomatic, isolated 2-mm blue-black papule on the scalp, and was found to have widespread metastatic melanoma to lymph node, liver, adrenal glands, subcutaneous tissue, skeleton, and lung. Histopathologic examination of the skin biopsy demonstrated a dermal nodule composed of sheets and nests of large round to polygonal cells centered about a hair follicle, with tumor cells within follicular epithelium. BRAF V600E gene mutation was documented in this lesion, and the patient was treated with vemurafenib. Dramatic improvement was noted on PET scan 2 months later. However, follow-up evaluation also revealed multiple new proliferative keratotic skin lesions with verrucal features, likely associated with BRAF inhibitor therapy. In addition to primary cutaneous melanoma and metastatic melanoma involving the skin, BRAF mutation has been found in metastatic melanoma of extracutaneous sites as well as in other types of malignancy such as papillary thyroid and colorectal carcinoma hairy cell leukemia, and Langerhans cell histiocytosis. To our knowledge, this is the first case of BRAF mutation documented in folliculotropic metastatic melanoma. Commercial support: None identified.
AB150
J AM ACAD DERMATOL
Clinical application of fluorescence in situ hybridization in the diagnosis and management of melanocytic lesions Rajiv I. Nijhawan, MD, St. Luke’s-Roosevelt Hospital Centers and Beth Israel Medical Center, New York, NY, United States; Henry J. Votava, MD, St. Luke’sRoosevelt Hospital Centers and Beth Israel Medical Center, New York, NY, United States; Kavita Mariwalla, MD, St. Luke’s-Roosevelt Hospital Centers and Beth Israel Medical Center, New York, NY, United States Currently, the criterion standard for the diagnosis of melanocytic lesions including melanoma is histopathologic examination, which also guides management options and disease prognosis based on depth of invasion. While most melanomas can be readily distinguished from benign nevi, some pigmented lesions can be challenging to interpret as being truly benign or truly malignant and can appear completely ambiguous. Unfortunately, misclassification can render severe consequences, which is why additional analysis is imperative to determine the true nature of the lesion. Fluorescence in situ hybridization (FISH) has been examined as an assay to aide in the diagnosis of melanoma in ambiguous melanocytic lesions where misclassification can render severe consequences. To date, this technology has been confined mainly to the research arena. We present 3 patients in whom FISH assisted us in the diagnosis and management of their respective ambiguous pigmented lesions. While the FISH assay is a new technology with limited use in the clinical arena, we provide a review on the current literature in dermatology, pathology, and molecular biology to better understand its limits and potential applications. While the FISH assay can be used as an adjunctive tool in diagnosing and managing difficult to interpret melanocytic lesions, true emphasis must be placed on clinical-molecular-pathologic correlation as was done in these cases. Future studies will better elucidate its full utility for diagnostic, prognostic, and management purposes. Commercial support: None identified.
APRIL 2013
P6105
Bilateral nevus of Ota and nevus of Ito Mariana Spedo, MD, Mariana Abrahao Spedo, S~ao Paulo, Brazil; Cristiane Otani, MD, Cristiane Volpe Otani, S~ao Paulo, Brazil; Daniel Amaral, MD, Daniel Lauer Spinola do Amaral, S~ao Paulo, Brazil; Leonidas Junior, MD, Leonidas Santos de Lara Junior, S~ao Paulo, Brazil; Natacha Vasconcellos, MD, Natacha Rivas Vasconcellos, S~ao Paulo, Brazil; Ricardo Villa, MD, Ricardo Tadeu Villa, S~ao Paulo, Brazil; Valcinir Bedin, MD, PhD, Valcinir Bedin, S~ao Paulo, Brazil
Clinical and dermatoscopic characteristics of desmoplastic melanomas Lucy Chen, Memorial Sloan-Kettering Cancer Center, New York, NY, United States; Ashfaq Marghoob, MD, Memorial Sloan-Kettering Cancer Center, New York, NY, United States; Klaus Busam, MD, Memorial Sloan Kettering Cancer Center, New York, NY, United States; Natalia Jaimes, MD, Memorial SloanKettering Cancer Center, New York, NY, United States; Stephen Dusza, Memorial Sloan-Kettering Cancer Center, New York, NY, United States
Background: Nevus of Ota is a brown blue melanocytic macule that appears on the first 2 branches of the trigeminal innervated part of the face and on the sclera. In 60% of cases, it appears during childhood, in the first year, and is more prevalent in asian women. It may be classified in 4 four types and bilateral case is known as type 4. Nevus of Ito is a brownish melanocytic macule usually located in the scapular, deltoid, supraclavicular and neck regions. Case report: A 47-year-old woman reports asymptomatic grayish brown macule on malar, periorbital and frontal regions bilaterally distributed for 25 years. She also reports light brown macules on bilateral scapular and retroauricular areas that appeared several years ago. Patient is under treatment for glaucoma. Dermatologic examination also revealed bilateral ocular grayish brown pigmentation. Histopathologic examination of both lesions revealed dendritic melanocytes in reticular dermis. Conclusion: Association of bilateral nevus of Ota and bilateral nevus of Ito is extremely rare and there are still no accurate data of its real incidence. Dermatologic and ophthalmologic follow-up is needed since there is a higher risk of glaucoma and melanoma development. The recommended treatment is Q-switched ruby or Q-switched Nd-Yag laser.
Background: The recognition of desmoplastic melanoma (DM) remains a diagnostic challenge for clinicians and pathologists.
Commercial support: None identified.
Objective: To describe and analyze the clinical and dermatoscopic characteristics of desmoplastic melanoma (DM) as a function of pathology subtype and phenotypic traits. Methods: DM cases confirmed by histopathology were included based on availability of a high-quality dermatoscopic image. Cases were selected from 8 high-risk dermatology clinics. Demographics, clinical, dermatoscopic, and histopathologic information were analyzed. Descriptive frequencies were calculated for clinical characteristics and dermatoscopic features that were present in the clinical and dermatoscopic images. Results: A total of 37 DM cases were identified. The majority of patients had fair skin, few nevi and no personal or family history of melanoma. Lentigo maligna (LM) was the most frequent subtype of melanoma associated with DM, followed by superficial spreading melanoma (SSM). The most frequent clinical presentation of DMs was a palpable and/or indurated lesion, with irregular and ill-defined borders, located on sun-exposed skin. Dermatoscopically, 43% revealed network or globules; however, all DMs had at least 1 melanoma-specific structure, the most frequent being atypical vascular structures. Forty-three percent of cases were classified as pure DM (PDM) and 57% as mixed DM (mDM). pDM were thicker than mDM (4.10 mm vs 2.83 mm; P ¼ .22), and were less likely to have an associated epidermal non-DM component (63% vs 100%; P ¼ .004). Patients with pDM were less likely to have a history of nonmelanoma skin cancer than patients with mDM. The presence of granularity was more frequent in pDM (44% pDM vs 24% mDM; P ¼ .29). Crystalline structures, polymorphous vessels, and vascular blush were more commonly seen in mDM than in pDM. Conclusion: Though DM can be difficult to diagnose based on clinical morphology alone, dermatoscopy has proved to be a useful aid during the evaluation of clinically equivocal DMs or those DMs displaying a banal appearance. The most common dermatoscopic clues observed in DMs include atypical vascular structures, peppering, and occasionally other melanoma-specific structures. Commercial support: None identified.
P6484 P5919 BRAF-positive folliculotropic metastatic melanoma Katherine Brick, MD, Mayo Clinic, Rochester, MN, United States; Kevin Halling, MD, PhD, Mayo Clinic, Rochester, MN, United States; Margot Peters, MD, Mayo Clinic, Rochester, MN, United States; Yulia Khan, MD, Mayo Clinic, Rochester, MN, United States Primary cutaneous folliculotropic melanoma has been described in fewer than 10 patients, and there are only 3 published cases of folliculotropic metastases. We report a 54-year-old man with history of primary cutaneous nodular melanoma at the right posterior shoulder, Breslow depth 3.4 mm, stage IIIA (T3b, N1a, M0) with one positive sentinel lymph node, negative full axillary dissection, and no metastases at initial staging. Two years later he presented with an asymptomatic, isolated 2-mm blue-black papule on the scalp, and was found to have widespread metastatic melanoma to lymph node, liver, adrenal glands, subcutaneous tissue, skeleton, and lung. Histopathologic examination of the skin biopsy demonstrated a dermal nodule composed of sheets and nests of large round to polygonal cells centered about a hair follicle, with tumor cells within follicular epithelium. BRAF V600E gene mutation was documented in this lesion, and the patient was treated with vemurafenib. Dramatic improvement was noted on PET scan 2 months later. However, follow-up evaluation also revealed multiple new proliferative keratotic skin lesions with verrucal features, likely associated with BRAF inhibitor therapy. In addition to primary cutaneous melanoma and metastatic melanoma involving the skin, BRAF mutation has been found in metastatic melanoma of extracutaneous sites as well as in other types of malignancy such as papillary thyroid and colorectal carcinoma hairy cell leukemia, and Langerhans cell histiocytosis. To our knowledge, this is the first case of BRAF mutation documented in folliculotropic metastatic melanoma. Commercial support: None identified.
AB150
J AM ACAD DERMATOL
Clinical application of fluorescence in situ hybridization in the diagnosis and management of melanocytic lesions Rajiv I. Nijhawan, MD, St. Luke’s-Roosevelt Hospital Centers and Beth Israel Medical Center, New York, NY, United States; Henry J. Votava, MD, St. Luke’sRoosevelt Hospital Centers and Beth Israel Medical Center, New York, NY, United States; Kavita Mariwalla, MD, St. Luke’s-Roosevelt Hospital Centers and Beth Israel Medical Center, New York, NY, United States Currently, the criterion standard for the diagnosis of melanocytic lesions including melanoma is histopathologic examination, which also guides management options and disease prognosis based on depth of invasion. While most melanomas can be readily distinguished from benign nevi, some pigmented lesions can be challenging to interpret as being truly benign or truly malignant and can appear completely ambiguous. Unfortunately, misclassification can render severe consequences, which is why additional analysis is imperative to determine the true nature of the lesion. Fluorescence in situ hybridization (FISH) has been examined as an assay to aide in the diagnosis of melanoma in ambiguous melanocytic lesions where misclassification can render severe consequences. To date, this technology has been confined mainly to the research arena. We present 3 patients in whom FISH assisted us in the diagnosis and management of their respective ambiguous pigmented lesions. While the FISH assay is a new technology with limited use in the clinical arena, we provide a review on the current literature in dermatology, pathology, and molecular biology to better understand its limits and potential applications. While the FISH assay can be used as an adjunctive tool in diagnosing and managing difficult to interpret melanocytic lesions, true emphasis must be placed on clinical-molecular-pathologic correlation as was done in these cases. Future studies will better elucidate its full utility for diagnostic, prognostic, and management purposes. Commercial support: None identified.
APRIL 2013