Search Our Scientific Publications & Authors

FEBS Open Bio 2020 May 19. Epub 2020 May 19.

Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.

Spitzoid neoplasms are a challenging group of cutaneous melanocytic proliferations. They are characterized by epithelioid and/ or spindle-shaped melanocytes and classified as benign Spitz nevi (SN), atypical Spitz tumors (AST) or malignant Spitz tumors (MST). The intermediate AST category represents a diagnostically challenging group since on purely histopathological grounds, their benign or malignant character remains unpredictable. Read More

Pigment Cell Melanoma Res 2020 May 9. Epub 2020 May 9.

Department of Biopathology, Center Léon Bérard, Lyon, France.

The genetic anomalies associated with the agminated variant of Spitz nevus have so far been limited to HRAS G13R mutations, especially when arising within a nevus spilus. A previous report exposed the case of a man with a giant pigmented macule involving his upper right limb and trunk. Since childhood, Spitz nevi have been periodically arising, within the pigmented area. Read More

J Cutan Pathol 2020 Apr 24. Epub 2020 Apr 24.

Department of Pathology, Cleveland Clinic, Cleveland, OH, USA.

Background: Screening borderline Spitz tumors with p16 immunohistochemistry has known utility. The applicability to other melanocytic neoplasms is not well defined.

Methods: Cases (N = 104) of blue, cellular blue, epithelioid blue, congenital pattern, deep penetrating, desmoplastic, desmoplastic Spitz, acral, "epithelioid" nevi, nevoid melanoma, melanoma with a precursor nevus, and non-nevoid melanoma with Breslow thickness > 0. Read More

J Dermatol 2020 May 24;47(5):538-541. Epub 2020 Feb 24.

Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

Angiomatoid Spitz nevus (ASN) is a rare histological variant of Spitz nevus (SN) that is characterized by prominent blood vessel proliferation around the intradermal melanocytes of SN. In contrast, SN may have pagetoid components, which are characterized by epidermal proliferation of single melanocytes. However, cases of ASN with predominant pagetoid melanocytic proliferation in the epidermis have not been reported. Read More

Mod Pathol 2020 Jan 3. Epub 2020 Jan 3.

Departments of Pathology and Dermatology, University of California San Francisco, San Francisco, CA, USA.

Melanomas that have histopathologic features that overlap with those of Spitz nevus are referred to as spitzoid melanomas. However, the diagnostic concept is used inconsistently and genomic analyses suggest it is a heterogeneous category. Spitz tumors, the spectrum of melanocytic neoplasms extending from Spitz nevi to their malignant counterpart Spitz melanoma, are defined in the 2018 WHO classification of skin tumors by the presence of specific genetic alterations, such as kinase fusions or HRAS mutations. Read More

An Bras Dermatol 2020 Jan - Feb;95(1):71-74. Epub 2019 Dec 12.

Dermatology Service, University of Chile Clinical Hospital, University of Chile, Santiago, Chile.

Spitz nevus is a benign melanocytic lesion, which presents in several ways: solitary, agminated, or disseminated. The disseminated variant is uncommon; it may have a rapid evolution (the eruptive form) and be difficult to manage. This report presents the case of a 24-year-old patient with multiple papules on his limbs, which had appeared four years previously. Read More

Postepy Dermatol Alergol 2019 Oct 12;36(5):572-580. Epub 2019 Nov 12.

Chair and Department of Dermatology, Venerology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.

Introduction: Ultrasonographic examination is commonly used in an outpatient setting, possibly due to its low cost, low risk for patients and the possibility to obtain real time images. Typically used heads have the frequency ranging from 7.5 to 12 MHz. Read More

Actas Dermosifiliogr 2020 Jan 28;111(1):7-19. Epub 2019 Nov 28.

Servicio de Dermatología, Hospital Infantil Universitario del Niño Jesús, Madrid, España. Electronic address:

A Spitz nevus is a melanocytic neoplasm of epithelioid and/or spindle cells that usually appears in childhood. These lesions are by nature benign, but their features can sometimes make them difficult to distinguish from melanomas. Spitzoid melanocytic lesions have been grouped into 3 types in recent decades: Spitz nevi, atypical Spitz tumors, and spitzoid melanomas. Read More

Actas Dermosifiliogr 2020 Jan 15;111(1):20-25. Epub 2019 Nov 15.

Servicio de Dermatología y Anatomía Patológica, Hospital Infantil Universitario del Niño Jesús, Madrid, España. Electronic address:

Melanocytic neoplasms with spitzoid morphology (Spitz nevi, atypical Spitz tumors, and spitzoid melanomas) may be benign or malignant. Because the malignant potential of atypical Spitz tumors is uncertain, the proper therapeutic approach has been much debated over the years. Promising new techniques for molecular analysis have enabled better predictions of the biological behavior of these tumors. Read More

Mod Pathol 2020 May 12;33(5):846-857. Epub 2019 Nov 12.

Department of Biopathology, Centre Léon Bérard, Lyon, France.

We report a series of 33 skin tumors harboring a gene fusion of the MAP3K8 gene, which encodes a serine/threonine kinase. The MAP3K8 fusions were identified by RNA sequencing in 28 cases and by break-apart FISH in five cases. Cases in which fusion genes were fully characterized demonstrated a fusion of the 5' part of MAP3K8 comprising exons 1-8 in frame to one of several partner genes at the 3' end. Read More

JAAD Case Rep 2019 Nov 24;5(11):970-972. Epub 2019 Oct 24.

Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.

Cutis 2019 Sep;104(3):173;187-188

Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, USA.

JAMA Netw Open 2019 10 2;2(10):e1912597. Epub 2019 Oct 2.

Department of Translational Research, Institut Curie, Paris, France.

Importance: Histopathologic criteria have limited diagnostic reliability for a range of cutaneous melanocytic lesions.

Objective: To evaluate the association of second-opinion strategies by general pathologists and dermatopathologists with the overall reliability of diagnosis of difficult melanocytic lesions.

Design, Setting, And Participants: This diagnostic study used samples from the Melanoma Pathology Study, which comprises 240 melanocytic lesion samples selected from a dermatopathology laboratory in Bellevue, Washington, and represents the full spectrum of lesions from common nevi to invasive melanoma. Read More

Indian J Dermatol Venereol Leprol 2019 Nov-Dec;85(6):629-632

Department of Dermatology, Seoul National University College of Medicine; Institute of Human-Environment Interface Biology, Seoul National University, Seoul, South Korea.

Pol J Pathol 2019 ;70(1):26-32

Pathology Unit, CRO Aviano IRCCS National Cancer Institute and University of Trieste, Trieste, Italy.

The distinction between atypical Spitz lesions, conventional melanocytic nevi including Spitz nevi, and malignant melanomas may be difficult in some cases or may even be impossible. The histological assessment of these lesions is necessary to ensure correct diagnosis and treatment. Nevertheless, pathologists may be subject to suboptimal concordance in the diagnosis of some atypical lesions. Read More

Am J Dermatopathol 2020 Mar;42(3):165-172

Department of Pathology, Western General Hospital and The University of Edinburgh, Edinburgh, United Kingdom.

Aims: Neurofibromas (NFs) and melanocytic nevi share a common neuroectodermal origin and may occasionally show overlapping morphological features. The objective of this study was to assess the prevalence and spectrum of melanocytic proliferation/differentiation in NFs and also to test the hypothesis whether detection of this feature could be used as a potential clue for neurofibromatosis type 1 (NF-1).

Methods: This was a retrospective study of 229 syndromic and 239 sporadic cutaneous NFs. Read More

Am J Dermatopathol 2019 Sep;41(9):623-629

Scientific Director, Dermatopathology Study Center of Florence, Florence, Italy.

Studies on the genomic aberrations in melanocytic neoplasms have shown a complex genomic landscape. In nevi and melanomas, a MAP-kinase pathway activation was generally found, produced by different chromosomal aberrations, including BRAF, NRAS, HRAS, GNAQ, GNA11, BAP1, CTNNB1, MAP2K1, PRKAR1A, and NF1 mutations, and ALK, ROS1, NTRK1, RET, MET, BRAF, NTRK3, and PRKCA fusions. Melanomas also showed a variable number of additional mutations ablating tumor-suppression mechanisms and activating other oncogenic pathways, including CDKN2A loss, PTEN loss, as well as TP53 and TERT-promoter mutations. Read More

Br J Dermatol 2019 08;181(2):235

Institut Curie, 26 rue d'Ulm, 75005, Paris, France.

Am J Dermatopathol 2020 Feb;42(2):92-102

Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Pilsen, Czech Republic.

Spitz tumors represent a heterogeneous group of melanocytic neoplasms with a spectrum of biological behavior ranging from benign (Spitz nevus) to malignant (spitzoid melanoma). Prediction of the behavior of these lesions based on their histological presentation is not always possible. Recently, mutually exclusive activating kinase fusions, involving ALK, NTRK1, NTRK3, RET, MET, ROS1, and BRAF, have been found in a subset of spitzoid lesions. Read More

Int J Womens Dermatol 2019 Jul 11;5(3):190-191. Epub 2019 Mar 11.

Northeast Ohio Medical University, 4209 OH-44, Rootstown, OH, 44272.

Pathol Res Pract 2019 Oct 22;215(10):152550. Epub 2019 Jul 22.

Department of Pathology and Laboratory Medicine Children's Mercy Hospital, 2401, Gillham Road, 64108, Kansas City, MO, United States. Electronic address:

When Spitz nevi have increased vertical thickness (>1.0 mm), show ulceration and deep seated mitoses, the differential diagnostic considerations of atypical Spitz tumor (AST) or a Spitzoid melanoma (SM) enter into consideration. While molecular genetic testing could be employed in the work up of atypical melanocytic proliferations, they are expensive and not available at all institutions. Read More

Obstet Gynecol Sci 2019 Jul 30;62(4):290-293. Epub 2019 May 30.

Department of Obstetrics and Gynecology, Inje University Busan Paik Hospital, Busan, Korea.

Angiomatoid Spitz nevus is a variant of melanocytic nevus with prominent vasculature. Due to its pathologic features, angiomatoid Spitz nevus in the vaginal wall is extremely rare. A 42-year-old woman presented to the hospital with abnormal vaginal bleeding. Read More

Am J Dermatopathol 2019 Aug;41(8):614

Departments of Dermatology, and.

Am J Dermatopathol 2020 Jan;42(1):e7-e10

Dermatology, University of Michigan Medical School, Ann Arbor, MI.

Atypical Spitz tumor (AST) is a melanocytic proliferation that shares histopathologic features of Spitz nevus and spitzoid melanoma. Distinction of AST from spitzoid melanoma is critical because the majority of ASTs will follow an indolent course. Array-based comparative genomic hybridization (aCGH) has been suggested as a potential tool for evaluating malignant potential in spitzoid tumors. Read More

Am J Dermatopathol 2019 Jul;41(7):488-491

Department of Dermatology, Yale University School of Medicine, New Haven, CT.

Background: Dermatopathologists routinely use Ki67 immunostaining to assess atypical melanocytic lesions with a dermal component to determine whether an ambiguous tumor is melanoma. However, there is no universal standard of use for Ki67 in melanocytic neoplasms. We sought to observe the real-world use of Ki67 in the diagnosis of melanocytic lesions and establish a best practice recommendation. Read More

J Cutan Pathol 2019 Dec 11;46(12):965-972. Epub 2019 Jul 11.

Pathology Service, Massachusetts General Hospital, Boston, Massachusetts.

Although discussed using variable terminology, cutaneous BRCA1-associated protein (BAP1)-inactivated melanocytic tumor (BIMT) has been considered a discrete diagnostic entity since 2011. Here, we review the initial genomic studies that identified these distinct melanocytic tumors and the clinical and histopathological features that define these tumors. These epithelioid, predominantly dermal, and melanocytic tumors present as erythematous nodules and histopathologically have features that may overlap with Spitz nevi and nevoid melanoma. Read More

Rev Esp Patol 2019 Jul - Sep;52(3):190-193. Epub 2019 Apr 9.

Los Angeles Medical Center (LAMC), Southern California Kaiser Permanente, Department of Dermatology, Los Angeles, CA, USA.

Chondroid stromal change is very rare in melanocytic nevi. We present a severely atypical symmetrical Spitz tumor on the right arm of a 24-years-old man. It showed maturation and occasional mitotic figures. Read More

J Cutan Pathol 2019 Nov 4;46(11):852-857. Epub 2019 Jul 4.

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana.

Germline mutations in BRCA1-associated protein 1 (BAP1) are associated with several neoplasms, including BAP1-inactivated melanocytic tumors (BIMTs). BIMTs are classically described as biphenotypic melanocytic proliferations with BAP1-deficient large epithelioid and rhabdoid melanocytes showing various degrees of cytologic atypia. This morphology has been traditionally classified as "spitzoid" despite the various differences between these lesions and the more classic Spitz nevi. Read More

J Cutan Pathol 2019 Nov 20;46(11):878-887. Epub 2019 Jun 20.

Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.

Recent advances in next generation sequencing (NGS) have allowed for efficient whole transcriptome sequencing, leading to the identification of important kinase fusions as the primary driver in some melanocytic neoplasms. These fusions typically occur mutually exclusively of one another and other well-known initiating mutations such as BRAF, NRAS, NF1, KIT, and GNAQ. Fusions are found in over 50% of Spitz neoplasms, including ALK, BRAF, NTRK1, NTRK3, ROS1, MET, MAP3K8, and RET. Read More

Pediatr Dermatol 2019 Jul 16;36(4):448-454. Epub 2019 Apr 16.

Department of Dermatology, Stanford University Medical Center, Pigmented Lesion and Melanoma Program, Stanford University Medical Center and Cancer Institute, Lucile Packard Children's Hospital, Stanford, California.

Objectives: To characterize clinical differences among nonwhite/multiethnic vs white children, adolescents, and young adults with melanoma or atypical melanocytic neoplasms, including atypical Spitz tumors.

Patients And Methods: A cohort of 55 patients (< 25 years of age) prospectively followed from 1995 to 2018 in the Stanford Pigmented Lesion and Melanoma Program was analyzed for differences in clinical presentation, including skin phototype, race/ethnicity, age, sex, tumor/melanoma characteristics, and outcome.

Results: Seventeen patients (9 males and 8 females) were classified as nonwhite (predominantly skin phototype IV) and of Hispanic, Asian, or Black/African American ethnicity, and 38 patients (21 males and 17 females) were classified as white (predominantly phototypes I/II). Read More

Am J Surg Pathol 2019 05;43(5):581-590

Division of Anatomic Pathology, Mayo Clinic, Rochester, MN.

Angiosarcoma is a rare malignant neoplasm of the liver. The various morphologic patterns seen with angiosarcomas of the liver have not been systematically studied and their recognition remains a major diagnostic challenge. In order to provide more comprehensive data on the morphologic patterns, angiosarcomas that had been diagnosed between 1996 and 2016 at a large medical referral center were reviewed. Read More

J Eur Acad Dermatol Venereol 2019 Aug 2;33(8):1541-1546. Epub 2019 May 2.

Centro Oncologico ad Alta Tecnologia Diagnostica, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Background: In vivo reflectance confocal microscopy significantly improves melanoma diagnosis as compared to clinical/dermoscopic examination alone. Several confocal criteria have been described allowing to differentiate melanoma from nevi; by combining different criteria, three pure confocal scores (Pellacani 2005, Segura 2009 and Pellacani 2012) and one mixed dermoscopic/confocal score (Borsari 2018) were constructed.

Objective: Our aim was to externally validate and compare the performance of these confocal scores. Read More

Hum Pathol 2019 05 8;87:57-64. Epub 2019 Mar 8.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, M5S 1A8 Canada.

Spitzoid neoplasms typically affect young individuals and include Spitz nevus, atypical Spitz tumor, and Spitzoid melanoma. Spitz tumors can exhibit gene fusions involving the receptor tyrosine kinases NTRK1, NTRK3, ALK, ROS1, RET, or MET, or the serine-threonine kinase BRAF. Because most studies have been based on adult cases, we studied ALK fusions in Spitz nevi occurring in pediatric patients. Read More

Am J Surg Pathol 2019 06;43(6):737-746

Departments of Dermatology and Pathology, UCSF, San Francisco, CA.

Activating NTRK1 fusions have been described as oncogenic events across the spectrum of Spitz tumors. Herein we report a series of 38 Spitz tumors with NTRK1 fusion. These Spitz tumors have distinctive histopathologic features characterized by filigree-like rete ridges which are elongated, thin and branched, dermal melanocytes arranged in a rosette-like configuration, and marked diminishment of melanocyte size with descent into the dermis. Read More

Zhonghua Bing Li Xue Za Zhi 2019 Mar;48(3):215-219

Clinical Pathological Diagnosis Center of Fudan University, Shanghai 200032, China.

To investigate the clinicopathologic features and prognosis of ALK-positive Spitz tumors. Thirteen patients with ALK-positive Spitz tumors diagnosed at Shanghai Cancer Center, Fudan University from October 2016 to December 2017 were collected. All cases were routinely evaluated histopathological features in HE staining and detected ALK protein expression by immunohistochemistry. Read More

SAGE Open Med Case Rep 2019 18;7:2050313X19829630. Epub 2019 Feb 18.

Division of Dermatology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Atypical Spitzoid lesions pose a distinct challenge in classification as they may comprise a mixture of both classic benign nevus and cutaneous melanoma characteristics. Immunostaining and molecular analysis, such as comparative genomic hybridization, can assist in narrowing the differential diagnosis. We present a case of a 5-year-old male with an atypical Spitzoid lesion on his back. Read More

Acta Derm Venereol 2019 Jul;99(9):824-825

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, IT-00165 Rome, Italy.

G Ital Dermatol Venereol 2019 Aug 14;154(4):457-465. Epub 2019 Feb 14.

First Department of Dermatology, Aristotle University, Thessaloniki, Greece -

Since their first description by Sophie Spitz, Spitz nevi have been a subject of controversy among clinicians for many decades, and remain a clinical conundrum until today as their etiology, morphology, biological behavior and natural evolution is still not totally clear. This is because their clinical, dermoscopic and histopathologic features sometimes overlap with those of melanoma, rendering the management of spitzoid lesions particularly difficult. In addition, cases of histopatologically equivocal lesions do exist and their classification might sometimes be very challenging. Read More

Virchows Arch 2019 May 12;474(5):539-550. Epub 2019 Feb 12.

Departement de Biopathologie, Centre Léon Bérard, 28, rue Laennec, 69008, Lyon, France.

Recent advances in genomics have improved the molecular classification of cutaneous melanocytic tumors. Among them, deep penetrating nevi (DPN) and plexiform nevi have been linked to joint activation of the MAP kinase and dysregulation of the β-catenin pathways. Immunohistochemical studies have confirmed cytoplasmic and nuclear expression of β-catenin and its downstream effector cyclin D1 in these tumors. Read More

Br J Dermatol 2019 02;180(2):262

Departments of Pathology and Dermatology, University of Michigan, Ann Arbor, MI, U.S.A.

Dermatol Online J 2018 Nov 15;24(11). Epub 2018 Nov 15.

Department of Dermatology, University of California Davis, School of Medicine, Sacramento, California.

Tattoos present a diagnostic challenge for dermatologists. Various reactions to tattoo have been identified in the literature ranging from allergic, to infectious, to neoplastic. Of the neoplastic cases identified, it is unclear whether the tattoo ink was directly causative, or if the cases were merely coincidence, as the number of cutaneous malignancies has also been on the rise. Read More

J Cutan Pathol 2019 May 14;46(5):310-316. Epub 2019 Feb 14.

Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Background: Accurate classification of spitzoid melanocytic lesions is difficult due to overlapping clinical and histopathologic features between Spitz nevi, atypical Spitz tumors (ASTs), and spitzoid melanomas. Expression of p16 (CDKN2A) has been used as a marker of spitzoid lesions. However, its expression may be variable. Read More

Am J Surg Pathol 2019 04;43(4):538-548

Departments of Dermatology.

Recent studies have described kinase fusions as the most common initiating genomic events in Spitzoid neoplasms. Each rearrangement generates a chimeric protein with constitutive activation of the tyrosine kinase domain, resulting in the development of a Spitzoid neoplasm. Identifying key initiating genomic events and drivers may assist in diagnosis, prognostication, and management. Read More

Dermatol Pract Concept 2018 Oct 31;8(4):320-321. Epub 2018 Oct 31.

Department of Dermatology, Hospital Clínico San Carlos, Madrid, Spain.

Eur J Cancer 2018 11 25;104:239-242. Epub 2018 Oct 25.

Department of Dermatology, Section of DermatoOncology, National Center for Tumor Diseases (NCT), University of Heidelberg, Germany. Electronic address:

Pediatr Dermatol 2018 Nov;35(6):821-822

J Am Acad Dermatol 2019 Jun 20;80(6):1585-1593. Epub 2018 Sep 20.

Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.

Background: Multiple BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors (BIMTs) have been associated with a familial cancer syndrome involving germline mutations in BAP1.

Objectives: We sought to describe the clinical and dermoscopic features of BIMTs.

Methods: This was a retrospective, multicenter, case-control study. Read More

Appl Immunohistochem Mol Morphol 2019 07;27(6):430-435

Department of Surgical and Transplant Physiopathology, University of Milan, Fondazione IRCCS Ca' Granda - Policlinico Hospital.

Spindle or epithelioid melanocytic (Spitz) nevi usually affect children or adolescents and growth in the face or the lower extremities. Histologically, they may show cytoarchitectural atypia and mitotic figures that could represent diagnostic pitfalls with malignant melanoma. Atypical spitzoid tumors (AST) indicate lesions that microscopically show intermediate characteristics between benign nevi and malignant melanoma. Read More

JAMA Dermatol 2018 11;154(11):1353-1354

Dermatology Unit, University of Campania, Naples, Italy.

Acta Derm Venereol 2018 11;98(10):993-994

Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan.