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Ahmad A Tarhini - One of the best experts on this subject based on the ideXlab platform.

  • intermediate grade meningeal melanocytoma associated with Nevus of ota a case report and review of the literature
    Melanoma Research, 2015
    Co-Authors: Donghoon Shin, Milind Sinha, Douglas Kondziolka, John M Kirkwood, Ahmad A Tarhini
    Abstract:

    : Meningeal melanocytomas are rare melanin-producing tumors that are often found to be benign. However, a small subset of these tumors can present as intermediate-grade melanocytomas (IGMs) that have histopathological features that are between those of benign melanocytomas and malignant melanomas. IGMs have the potential to recur and metastasize or progress to a more histologically high grade melanoma. Melanocytomas appear to differ from primary and metastatic melanoma by their prolonged clinical course and they appear to have different driver mutations (i.e. mutation of GNAQ gene). The association of a meningeal melanocytoma with Nevus of Ota is extremely rare. To our knowledge, there have been only 10 reported cases of synchronous occurrence and only one of the cases involved an IGM. We report the second case of intermediate-grade meningeal melanocytoma that is associated with Congenital Nevus of Ota. Histopathological work-up confirmed the intermediate grade of the lesion and a driver GNAQ mutation was identified consistent with previous reports.

Arthur J Sober - One of the best experts on this subject based on the ideXlab platform.

  • a nonepidermal primary malignant melanoma arising in a giant Congenital melanocytic Nevus 40 years after partial surgical removal
    Journal of The American Academy of Dermatology, 2004
    Co-Authors: Brian N Streams, Martin C Mihm, Peter A Lio, Arthur J Sober
    Abstract:

    G iant Congenital melanocytic nevi (GCMN) are defined by their size, measuring at least 20 cm in diameter in adulthood.1 These lesions are extremely rare and have an estimated incidence of 1 in 20,000 newborns.2 The most common anatomic site of a GCMN is the trunk, followed by the extremities and head/neck areas.3 Many GCMN can be associated with smaller satellite Congenital nevi involving a variety of anatomic locations. Patients with GCMN have an increased risk of developing melanoma, and malignant transformation is most likely to occur during the first decade of life.4 The lifetime risk of developing melanoma in a large Congenital Nevus is approximately 3% to 6%.3 Although melanomas arising in large Congenital nevi are usually of cutaneous origin (epidermal or nonepidermal), reports have also shown that transformation can occur in extracutaneous sites, such as in neurocutaneous melanocytosis.5 The management of GCMN presents a challenge because of their size and the potential for increased morbidity from operation in the pediatric population. Although routine clinical observation to detect morphologic changes in these lesions is commonly recommended, malignant transformation can go undetected in cases of melanoma arising in nonepidermal sites.6 Another approach to the treatment of these lesions is prophylactic excision to the fascial plane. This procedure is often performed in the first year of life, because the period of greatest risk of developing melanoma occurs during the first decade. In addition, surgical removal might become more difficult as the patient grows and the Nevus increases in size. Unfortunately, complete excision can rarely be achieved because Nevus cells in GCMN can reside in deep subcutaneous structures, such as appendages, nerves, vessels, and muscles. In addition, the morbidity of a large surgical excision, along with the cosmetic and functional outcome, must be considered for patients with these types of lesions. We describe a 44-year-old woman who developed a subcutaneous, primary malignant melanoma underneath an intact skin graft 40 years after having had a partial excision and grafting of her GCMN. Although the late development of malignant melanoma is uncommon, this case clearly demonstrates the problematic nature of treating patients with GCMN.

  • very late metastasis 27 years of cutaneous malignant melanoma arising in a halo giant Congenital Nevus
    Dermatology, 1994
    Co-Authors: D Bouffard, R L Barnhill, Martin C Mihm, Arthur J Sober
    Abstract:

    We report a case of primary cutaneous melanoma with the incidental finding of a lung metastasis 27 years following the original diagnosis. The case is exceptional in that it is a late metastasis of a

Donghoon Shin - One of the best experts on this subject based on the ideXlab platform.

  • intermediate grade meningeal melanocytoma associated with Nevus of ota a case report and review of the literature
    Melanoma Research, 2015
    Co-Authors: Donghoon Shin, Milind Sinha, Douglas Kondziolka, John M Kirkwood, Ahmad A Tarhini
    Abstract:

    : Meningeal melanocytomas are rare melanin-producing tumors that are often found to be benign. However, a small subset of these tumors can present as intermediate-grade melanocytomas (IGMs) that have histopathological features that are between those of benign melanocytomas and malignant melanomas. IGMs have the potential to recur and metastasize or progress to a more histologically high grade melanoma. Melanocytomas appear to differ from primary and metastatic melanoma by their prolonged clinical course and they appear to have different driver mutations (i.e. mutation of GNAQ gene). The association of a meningeal melanocytoma with Nevus of Ota is extremely rare. To our knowledge, there have been only 10 reported cases of synchronous occurrence and only one of the cases involved an IGM. We report the second case of intermediate-grade meningeal melanocytoma that is associated with Congenital Nevus of Ota. Histopathological work-up confirmed the intermediate grade of the lesion and a driver GNAQ mutation was identified consistent with previous reports.

Lev V. Demidov - One of the best experts on this subject based on the ideXlab platform.

  • melanoma arising in a giant Congenital melanocytic Nevus two case reports
    Diagnostic Pathology, 2019
    Co-Authors: Tatiana S. Belysheva, Yana V. Vishnevskaya, Tatiana V. Nasedkina, Marina A. Emelyanova, Ivan S. Abramov, Kristina V. Orlova, Ludmila N. Lubchenko, Igor A. Utyashev, Marina B. Doroshenko, Lev V. Demidov
    Abstract:

    A giant Congenital melanocytic Nevus (GCMN) is found in 0.1% of live-born infants. If present, the lesion has a chance of about 6% to develop into malignant melanoma. Both children and adults can be affected by malignant melanoma arising in a giant Congenital Nevus. Up to 95% of GCMNs harbor NRAS mutations, and mutations in the BRAF, MC1R, TP53, and GNAQ genes have also been described. The individualization of therapy is required, but diagnostic and prognostic criteria remain controversial. We report two cases: 1) melanoma arising in a giant Congenital Nevus during the first month of life complicated with neurocutaneous melanosis (NCM), and 2) melanoma arising in a giant Congenital Nevus during the first 6 months of life. Pathology, immunohistochemistry, and genetic analyses of tumor tissue were performed. The first case revealed only a non-pathogenic P72R polymorphism of the TP53 gene in the homozygote condition. For the second case, a Q61K mutation was detected in the NRAS gene. Malignant melanoma associated with GCMN is rare and therefore poorly understood. Outcomes have been linked to the stage at diagnosis, but no additional pathological prognostic factors have been identified. The most frequent genetic event in giant CMNs is NRAS mutations, which was discovered in one of our cases. To accumulate evidence to improve disease prognosis and outcomes, children with Congenital melanocytic Nevus should be included in a systemic follow-up study from birth.

  • Melanoma arising in a Giant Congenital melanocytic Nevus: two case reports
    BMC, 2019
    Co-Authors: Tatiana S. Belysheva, Yana V. Vishnevskaya, Tatiana V. Nasedkina, Marina A. Emelyanova, Ivan S. Abramov, Kristina V. Orlova, Ludmila N. Lubchenko, Igor A. Utyashev, Marina B. Doroshenko, Lev V. Demidov
    Abstract:

    Abstract Background A giant Congenital melanocytic Nevus (GCMN) is found in 0.1% of live-born infants. If present, the lesion has a chance of about 6% to develop into malignant melanoma. Both children and adults can be affected by malignant melanoma arising in a giant Congenital Nevus. Up to 95% of GCMNs harbor NRAS mutations, and mutations in the BRAF, MC1R, TP53, and GNAQ genes have also been described. The individualization of therapy is required, but diagnostic and prognostic criteria remain controversial. Case presentations We report two cases: 1) melanoma arising in a giant Congenital Nevus during the first month of life complicated with neurocutaneous melanosis (NCM), and 2) melanoma arising in a giant Congenital Nevus during the first 6 months of life. Pathology, immunohistochemistry, and genetic analyses of tumor tissue were performed. The first case revealed only a non-pathogenic P72R polymorphism of the TP53 gene in the homozygote condition. For the second case, a Q61K mutation was detected in the NRAS gene. Conclusion Malignant melanoma associated with GCMN is rare and therefore poorly understood. Outcomes have been linked to the stage at diagnosis, but no additional pathological prognostic factors have been identified. The most frequent genetic event in giant CMNs is NRAS mutations, which was discovered in one of our cases. To accumulate evidence to improve disease prognosis and outcomes, children with Congenital melanocytic Nevus should be included in a systemic follow-up study from birth

Martin C Mihm - One of the best experts on this subject based on the ideXlab platform.

  • bap1 and brafv600e expression in benign and malignant melanocytic proliferations
    Human Pathology, 2015
    Co-Authors: Adriano Piris, Martin C Mihm, Mai P. Hoang
    Abstract:

    Summary BAP1 (BRCA1-associated protein 1) is a tumor suppressor gene whose mutations have recently been reported to increase susceptibility for the development of uveal melanoma, cutaneous atypical and epithelioid melanocytic lesions, clear cell renal cell carcinoma, and other tumors. Screening for BAP1 mutation/loss/inactivation and BRAF V600E mutation can be done by immunohistochemistry. We investigated BAP1 and BRAFV600E expression in 193 sporadic melanocytic lesions (11 dermal nevi, 20 Congenital nevi, 40 primary and nondesmoplastic melanomas, 40 desmoplastic melanomas, 23 metastatic melanomas, 17 Spitz nevi, 19 atypical Spitz nevi, 8 atypical Spitz tumors, 14 proliferative nodules arising in Congenital nevi, 1 Nevus during pregnancy) and 30 melanocytic lesions from 3 patients with family history of uveal melanoma and BAP1 germline mutation. Most sporadic melanocytic lesions exhibited positive BAP1 nuclear staining, except for 1 proliferative nodule arising in Congenital Nevus, 1 desmoplastic, 1 nevoid, and 2 metastatic melanomas. BRAFV600E positivity was demonstrated in 80% of dermal, 5% of Congenital, 6% of Spitz, and 5.5% of atypical Spitz nevi; 29% of proliferative nodules arising in Congenital nevi; and 24% of primary and nondesmoplastic and 35% of metastatic melanomas. Combined BAP1 loss and BRAFV600E staining was seen in 67% of BAP1 tumor syndrome–associated lesions and in none of the sporadic melanocytic proliferations including Spitz and atypical Spitz nevi and atypical Spitz tumors, with the exception of 1 primary melanoma. The combined BAP1-BRAFV600E+ immunoprofile appears to be a constant feature of BAP1 tumor syndrome–associated melanocytic lesions, and the designation of Spitz nevi or variants thereof appears to be inaccurate for this group of lesions.

  • a nonepidermal primary malignant melanoma arising in a giant Congenital melanocytic Nevus 40 years after partial surgical removal
    Journal of The American Academy of Dermatology, 2004
    Co-Authors: Brian N Streams, Martin C Mihm, Peter A Lio, Arthur J Sober
    Abstract:

    G iant Congenital melanocytic nevi (GCMN) are defined by their size, measuring at least 20 cm in diameter in adulthood.1 These lesions are extremely rare and have an estimated incidence of 1 in 20,000 newborns.2 The most common anatomic site of a GCMN is the trunk, followed by the extremities and head/neck areas.3 Many GCMN can be associated with smaller satellite Congenital nevi involving a variety of anatomic locations. Patients with GCMN have an increased risk of developing melanoma, and malignant transformation is most likely to occur during the first decade of life.4 The lifetime risk of developing melanoma in a large Congenital Nevus is approximately 3% to 6%.3 Although melanomas arising in large Congenital nevi are usually of cutaneous origin (epidermal or nonepidermal), reports have also shown that transformation can occur in extracutaneous sites, such as in neurocutaneous melanocytosis.5 The management of GCMN presents a challenge because of their size and the potential for increased morbidity from operation in the pediatric population. Although routine clinical observation to detect morphologic changes in these lesions is commonly recommended, malignant transformation can go undetected in cases of melanoma arising in nonepidermal sites.6 Another approach to the treatment of these lesions is prophylactic excision to the fascial plane. This procedure is often performed in the first year of life, because the period of greatest risk of developing melanoma occurs during the first decade. In addition, surgical removal might become more difficult as the patient grows and the Nevus increases in size. Unfortunately, complete excision can rarely be achieved because Nevus cells in GCMN can reside in deep subcutaneous structures, such as appendages, nerves, vessels, and muscles. In addition, the morbidity of a large surgical excision, along with the cosmetic and functional outcome, must be considered for patients with these types of lesions. We describe a 44-year-old woman who developed a subcutaneous, primary malignant melanoma underneath an intact skin graft 40 years after having had a partial excision and grafting of her GCMN. Although the late development of malignant melanoma is uncommon, this case clearly demonstrates the problematic nature of treating patients with GCMN.

  • very late metastasis 27 years of cutaneous malignant melanoma arising in a halo giant Congenital Nevus
    Dermatology, 1994
    Co-Authors: D Bouffard, R L Barnhill, Martin C Mihm, Arthur J Sober
    Abstract:

    We report a case of primary cutaneous melanoma with the incidental finding of a lung metastasis 27 years following the original diagnosis. The case is exceptional in that it is a late metastasis of a