title: Congenital nevi versus metastatic melanoma in a newborn to a mother with malignant melanoma - diagnosis supported by sex chromosome analysis and Imaging Mass Spectrometry.
abstract: A 37-year-old pregnant woman presented with a 2-cm irregular reddish nodule on her left upper arm during pregnancy. A biopsy from the lesion showed a 2.2-mm thick malignant melanoma with intravascular invasion, 25 mitosis/mm(2) and no ulceration. Following induction of labor, the patient underwent re-excision with sentinel lymph node biopsy. This showed no residual melanoma and no lymph node metastasis. The newborn boy had multiple pigmented lesions on the trunk, some of which were large and irregular. Two were biopsied and histologic examination showed dense dermal proliferation of medium sized melanocytes with multiple mitotic figures and no maturation with their descent into the dermis, raising suspicion of transplacental metastases. Examination of the placenta failed to show metastatic lesions. Multiplex polymerase chain reaction (PCR)-based genotyping, including testing for amelogenin locus for sex chromosome determination, demonstrated the presence of Y chromosome material in the melanocytes of the newborn's lesions excluding maternal origin. A diagnosis of congenital nevi was rendered. Subsequently, Imaging Mass Spectrometric analysis of the mother's lesion showed proteomic signature expression indicative of malignant melanoma, whereas the two lesions in the newborn showed changes indicative of nevi. This case demonstrates the utility of genotyping and Mass Spectrometry analysis in this challenging clinical scenario.
authors.affiliation: Department of Pathology, Yale School of Medicine, New Haven, CT, USA.
authors.forename: Ahmed K
authors.identifier: http://orcid.org/0000-0002-3776-5053
authors.initials: AK
authors.lastname: Alomari
authors.affiliation: Department of Pathology, Yale School of Medicine, New Haven, CT, USA.|Department of Dermatology, Yale School of Medicine, New Haven, CT, USA.
authors.forename: Earl J
authors.initials: EJ
authors.lastname: Glusac
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, CT, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Choi
authors.affiliation: Department of Pathology, Yale School of Medicine, New Haven, CT, USA.
authors.forename: Pei
authors.initials: P
authors.lastname: Hui
authors.affiliation: Mass Spectrometry Research Center, Vanderbilt University, Nashville, TN, USA.
authors.forename: Erin H
authors.initials: EH
authors.lastname: Seeley
authors.affiliation: Mass Spectrometry Research Center, Vanderbilt University, Nashville, TN, USA.
authors.forename: Richard M
authors.initials: RM
authors.lastname: Caprioli
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, CT, USA.
authors.forename: Kalman L
authors.initials: KL
authors.lastname: Watsky
authors.affiliation: Stony Brook University School of Medicine, Stony Brook, NY, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Urban
authors.affiliation: Department of Pathology, Yale School of Medicine, New Haven, CT, USA.|Department of Dermatology, Yale School of Medicine, New Haven, CT, USA.
authors.forename: Rossitza
authors.initials: R
authors.lastname: Lazova
mesh_terms: D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013058:Mass Spectrometry / Q000379:methods; D008545:Melanoma / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D009362:Neoplasm Metastasis; D009508:Nevus, Pigmented / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D010920:Placenta / Q000473:pathology; D011247:Pregnancy; D011252:Pregnancy Complications, Neoplastic / Q000473:pathology*; D021701:Sentinel Lymph Node Biopsy; D012730:Sex Chromosomes; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D000096142:Cutaneous Malignant Melanoma
keywords: Imaging Mass Spectrometry; PCR; congenital nevus; malignant melanoma; melanocytic neoplasm; molecular pathology