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Desmoplastic melanoma

Stephanie E Weissinger, Manfred Frick, Peter Möller, Basil A Horst, Jochen K Lennerz
Background Diagnostic confirmation of spindle-cell melanoma (SM) or desmoplastic melanoma (DM) as a melanoma can be challenging. In conventional melanoma (CM), a recently established fluorescence in situ hybridization (FISH) assay for RREB1, MYB, CCND1 can be helpful. Here, we determined the presence of RREB1, MYB, and CCND1 abnormalities in an SM/DM/mixed cohort. Methods We assembled 49 cases and performed 3 separate hybridizations for RREB1/MYB/CCND1 We assessed clinical utility in diagnostically challenging cases and performed a cost and turnaround time analysis...
November 29, 2016: International Journal of Surgical Pathology
Randie H Kim, Shane A Meehan
BACKGROUND: Little is known regarding the clinical practice of immunohistochemistry in the diagnosis of melanoma. We aimed to assess the incidence of immunostain usage by referring pathologists and dermatopathologists in melanoma cases sent for consultative review. As a secondary objective, associations between immunostain use and specific melanoma characteristics were also evaluated. METHODS: This is a retrospective review of consultation reports of referred melanomas at a tertiary academic center in New York, New York from 2001-2015...
November 22, 2016: Journal of Cutaneous Pathology
Julia T Chu, Michael A Liss, William W Wu, Atreya Dash, Di Lu
[This corrects the article DOI: 10.1155/2015/706572.].
2016: Case Reports in Urology
Marco Manfredini, Giovanni Pellacani, Lorena Losi, Monia Maccaferri, Aldo Tomasi, Giovanni Ponti
AIM: To evaluate clinical, pathologic and genetic features of desmoplastic melanoma (DM). MATERIALS & METHODS: Analysis of all DM records from 1991 to 2015. RESULTS: The most common location of DMs was the head and neck (69%); median age and follow-up were 60.5 and 7.3 years, respectively. A familial predisposition for DMs and others malignancies was analyzed. Thin Breslow thickness (<4.5 mm) was associated with an intraepidermal component or a previous lentigo maligna, whereas high Breslow thickness (>4...
October 12, 2016: Future Oncology
Christopher R Jackson, Eugen C Minca, Jyoti P Kapil, Steven Christopher Smith, Steven D Billings
Malignant peripheral nerve sheath tumors are rare soft tissue sarcomas with histological and immunohistochemical similarities to spindle cell melanoma. Although spindle cell melanoma is significantly more common, both tumors may express S100 and lack staining for HMB-45, Melan-A or MITF. Here we present a case of superficial malignant peripheral nerve sheath tumor with diffuse S100 positivity arising in a subtle neurofibroma in close proximity to an intradermal melanocytic nevus. This configuration had led to prior misdiagnosis as a desmoplastic melanoma arising in the nevus and to sentinel lymph node biopsy...
December 2016: Journal of Cutaneous Pathology
Uwe Wollina, Jacqueline Schönlebe, Birgit Heinig, Andreas Nowak, Anastasiya Atanasova Chokoeva, Georgi Tchernev
Non-melanoma skin cancer is the most common type of cutaneous neoplasm worldwide. While basal cell carcinoma is the most common tumor, squamous cell carcinoma (SCC) causes higher morbidity and has a risk of metastatic spread, depending on immune status, tumor size, and desmoplastic growth. We reported the case of a 77 year old male patient with retroauricular tumor, which started growing 3 years ago and was excised, buth relapsed three times. The initial diagnosis was infundibular cyst. Delayed Mohs surgery was performed, as was an additional open lymph node biopsy of the patient's right groin, on the occasion of an indolent swelling of the same which developed within 3 months...
September 8, 2016: Wiener Medizinische Wochenschrift
Nicholas F Lawrence, Marc R Hammond, Dennie T Frederick, Yuhua Su, Dora Dias-Santagata, April Deng, M Angelica Selim, Meera Mahalingam, Keith T Flaherty, Mai P Hoang
BACKGROUND: The prognostic role Ki-67, p53, and p16 immunostains and RET (rearranged during transfection) polymorphism in desmoplastic melanoma has not been evaluated. OBJECTIVE: We sought to identify potential prognostic markers. METHODS: We performed Ki-67, p53, and p16 immunostains on 66 desmoplastic melanomas, and sequenced RET G691 polymorphism and recurrent mutations of 17 cancer genes in 55 and 20 cases, respectively. RESULTS: Recurrence and metastasis were documented in 11 of 66 (17%) and 26 of 66 (39%) patients, respectively...
September 2016: Journal of the American Academy of Dermatology
C Hennequin, E Rio, M-A Mahé
The indications of radiotherapy for skin cancers are not clearly defined because of the lack of randomised trials or prospective studies. For basal cell carcinomas, radiotherapy frequently offers a good local control, but a randomized trial showed that surgery is more efficient and less toxic. Indications of radiotherapy are contra-indications of surgery for patients older than 60, non-sclerodermiform histology and occurring in non-sensitive areas. Adjuvant radiotherapy could be proposed to squamous cell carcinomas, in case of poor prognostic factors...
September 2016: Cancer Radiothérapie: Journal de la Société Française de Radiothérapie Oncologique
Sabrina N Pavri, James Clune, Stephan Ariyan, Deepak Narayan
LEARNING OBJECTIVES: After reading this article, the participant should be able to: 1. Discuss the initial management of cutaneous malignant melanoma with regard to diagnostic biopsy and currently accepted resection margins. 2. Be familiar with the management options for melanoma in specific situations such as subungual melanoma, auricular melanoma, and melanoma in the pregnant patient. 3. Discuss the differentiating characteristics of desmoplastic melanoma and its treatment options. 4...
August 2016: Plastic and Reconstructive Surgery
Yin P Hung, Christopher Dm Fletcher, Jason L Hornick
A distinct subset of round cell sarcomas harbors capicua transcriptional repressor (CIC) rearrangement. Diagnosing these sarcomas can be difficult owing to their resemblance to Ewing sarcoma and other 'small round blue cell tumors'; molecular techniques are generally required. Recent gene expression studies of CIC-rearranged sarcomas identified the upregulation of ETV4. We assessed the sensitivity and specificity of ETV4 and WT1 immunohistochemistry for CIC-rearranged sarcoma. We evaluated whole-tissue sections from 40 CIC-rearranged sarcomas, 40 Ewing sarcomas, 4 BCOR-CCNB3 sarcomas, 6 unclassified round cell sarcomas, and 150 histologic mimics...
July 22, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
William G Rule, Jacob B Allred, Barbara A Pockaj, Svetomir N Markovic, David J DiCaudo, Lori A Erickson, Richard L Deming, Steven E Schild
To examine, in a prospective fashion, the utilization and efficacy of adjuvant radiation therapy (RT) in patients with resected desmoplastic melanoma (DM). Adult patients with resected, margin-negative, and nonmetastatic DM were eligible for this single-arm prospective phase II study. Patients were to receive postoperative RT, 30 Gy in five fractions, to the operative bed with 2- to 3-cm margins (depending on the tumor location). Nodal basin RT was not allowed. The primary study endpoint was the 2-year local recurrence rate (LRR)...
August 2016: Cancer Medicine
Irena Karanetz, Sharon Stanley, Denis Knobel, Benjamin D Smith, Nicholas Bastidas, Mansoor Beg, Armen K Kasabian, Neil Tanna
BACKGROUND: The timing of reconstruction following melanoma extirpation remains controversial, with some advocating definitive reconstruction only when the results of permanent pathologic evaluation are available. The authors evaluated oncologic safety and cost benefit of single-stage neoplasm extirpation with immediate reconstruction. METHODS: The authors reviewed all patients treated with biopsy-proven melanoma followed by immediate reconstruction during a 3-year period (January of 2011 to December of 2013)...
July 2016: Plastic and Reconstructive Surgery
Konstantin Dobrenkov, Irina Ostrovnaya, Jessie Gu, Irene Y Cheung, Nai-Kong V Cheung
BACKGROUND: GD2 and GD3 are the tumor-associated glycolipid antigens found in a broad spectrum of human cancers. GD2-specific antibody is currently a standard of care for high-risk neuroblastoma therapy. In this study, the pattern of GD2 and GD3 expression among pediatric/adolescent or young adult tumors was determined, providing companion diagnostics for targeted therapy. METHODS: Ninety-two specimens of human osteosarcoma (OS), rhabdomyosarcoma (RMS), Ewing family of tumors, desmoplastic small round cell tumor (DSRCT), and melanoma were analyzed for GD2/GD3 expression by immunohistochemistry...
October 2016: Pediatric Blood & Cancer
Emily M Erstine, Hillary R Elwood, Kent C Westbrook, Timothy H McCalmont, Sara C Shalin, Jerad M Gardner
Desmoplastic melanoma is an uncommon form of melanoma characterized by atypical spindled melanocytes and abundant collagen deposition. It typically presents in sun-damaged skin of the elderly as an amelanotic, indurated lesion. It has a higher tendency for local recurrence but lower risk of lymph node metastasis vs. conventional malignant melanoma. We report two cases in women aged 59 and 66 who presented with small scalp lesions clinically suggestive of alopecia. The differential diagnosis included alopecia areata, lupus erythematosus and lichen planopilaris...
October 2016: Journal of Cutaneous Pathology
Shi Yang, Dominick Leone, Noah Frydenlund, Mai Hoang, April Deng, Marier Hernandez-Perez, Asok Biswas, Rajendra Singh, Ron Yaar, Meera Mahalingam
Estimates of the frequency of telomerase reverse transcripter (TERT) mutations in desmoplastic melanoma (DM) are limited. DM is categorized into subtypes, pure and mixed, differing in prognosis, suggesting genetic heterogeneity. Given this, our aims were to determine the incidence of TERT promoter mutations in DM subtypes and to evaluate its relationship with established histopathologic prognosticators, BRAF and RETp status, and neurofibromin protein expression. Of the archival annotated samples retrieved, 76 cases of DM (48 pure and 28 mixed) fulfilled the criteria for inclusion...
August 2016: Melanoma Research
François-Xavier Danlos, Cécile Pagès, Barouyr Baroudjian, Laetitia Vercellino, Maxime Battistella, Maurice Mimoun, Majdi Jebali, Martine Bagot, Abdellatif Tazi, Céleste Lebbé
To our knowledge, we report the first case of sarcoid-like granulomatous reaction induced by nivolumab, a fully human IgG4 anti-programmed death 1 (PD-1) immune checkpoint inhibitor antibody. A 57-year-old man was treated with nivolumab 3 mg/kg for 2 weeks for a desmoplastic melanoma stage III American Joint Commission on Cancer, with no BRAF, NRAS, and cKit mutations. At 10 months, although melanoma complete response was achieved, he developed sarcoid-like granulomatous reaction in the mediastinal lymph node and skin, which resumed after nivolumab arrest...
May 2016: Chest
Olga Andreevscaia, Ivan Theate, Cathy Goossens, Olivier Vanhooteghem
Desmoplastic melanoma (DM) is a rare variant of spindle-cell malignant melanoma. DM is easily misdiagnosed at an early stage because it can be confused with benign entities. Histological analysis, including careful attention to the presence of atypical spindle cells, as well as to lymphocytic aggregates in an abundant fibrotic stroma in the dermis, provides clues for diagnosis. The adjunction of an immunohistochemical panel, and particularly testing for S-100 protein, is needed for the final diagnosis.
March 21, 2016: Rare Tumors
Mangaladevi S Patil, Kristopher M Day, Bassam I Aswad, Jesse Hart, Thomas Ng
Desmoplastic malignant melanoma (DMM) is an extremely rare subtype of cutaneous melanoma that has diverse clinical presentations. We describe the unique case of a 57-year-old man presenting with empyema secondary to vascular occlusion from metastatic DMM. Only two other cases of DMM presenting as a lung mass have been previously reported in the literature. This report highlights potential insidious pathology of DMM, which requires a high clinical suspicion to properly diagnose and manage.
2016: Journal of Surgical Case Reports
Alexander Kadokura, Noah Frydenlund, Dominick A Leone, Shi Yang, Mai P Hoang, April Deng, Marier Hernandez-Perez, Asok Biswas, Rajendra Singh, Ron Yaar, Meera Mahalingam
Loss of the NF1 allele, coding for the protein neurofibromin, and polymorphism in the proto-oncogene RET (RETp) are purportedly common in desmoplastic melanoma (DM). DM is categorized into pure (PDM) and mixed (MDM) subtypes, which differ in prognosis. Most NF1 mutations result in a truncated/absent protein, making immunohistochemical screening for neurofibromin an ideal surrogate for NF1 allelic loss. Using antineurofibromin, our aims were to ascertain the incidence of neurofibromin loss in DM subtypes and to evaluate the relationship with RET, perineural invasion (PNI) and established histopathologic prognosticators...
July 2016: Human Pathology
Serkan Erkan, Aanand N Acharya, James Savundra, Stephen B Lewis, Gunesh P Rajan
Background Desmoplastic neurotropic melanoma (DNM) is a rare, highly malignant, and locally invasive form of cutaneous melanoma with a tendency for perineural invasion (PNI). Methods We report a case of a 61-year-old man presenting with right-sided trigeminal neuralgia and progressive facial paresis due to the PNI of the intracranial trigeminal nerve and the intraparotid facial nerve from DNM. We also present a review of the literature with six cases of DNM with PNI of the intracranial trigeminal nerve identified...
March 2016: Journal of Neurological Surgery Reports
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