Mesenchymal tumours with melanocytic expression: a potential pitfall in the differential diagnosis of malignant melanoma

Saleh, Jasmine; Whittington, Carli P.; Bresler, Scott C.

doi:10.1016/j.pathol.2022.12.340

Cited by 8 publications

(5 citation statements)

References 38 publications

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“…The distinctive histologic features of CSM can present a diagnostic challenge, often requiring differentiation from other cutaneous lesions, including ALK-negative epithelioid cell histiocytoma, epithelioid perineurioma, dermatofibrosarcoma protuberans (DFSP), malignant or nevoid melanoma, and certain types of sarcomas, including epithelioid sarcoma. 15,17,18…”

Section: Discussionmentioning

confidence: 99%

“…15,16 The distinctive histologic features of CSM can present a diagnostic challenge, often requiring differentiation from other cutaneous lesions, including ALK-negative epithelioid cell histiocytoma, epithelioid perineurioma, dermatofibrosarcoma protuberans (DFSP), malignant or nevoid melanoma, and certain types of sarcomas, including epithelioid sarcoma. 15,17,18 ALK-negative epithelioid cell histiocytoma manifests as sheets of epithelioid histiocytes, primarily affecting young adults. 19 The absence of S100 expression in ALK-negative epithelioid cell histiocytoma serves as a key distinction, facilitating its differentiation from CSM, which typically exhibits S100 positivity.…”

Section: Discussionmentioning

confidence: 99%

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Cutaneous Syncytial Myoepithelioma: An Uncommon and Distinct Variant of Cutaneous Epithelioid Neoplasm

Shaker,

Phelps,

Niedt

et al. 2024

The American Journal of Dermatopathology

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Background: Cutaneous syncytial myoepithelioma (CSM) is an uncommon and distinct variant of cutaneous myoepithelioma. We aim to present a case of CSM to enhance the recognition of this unique variant, encompassing its clinical characteristics, histopathological features, immunohistochemical staining, and therapeutic approaches. Case presentation: A 10-year-old girl presented with a dome-shaped nodule located on the skin of her left medial distal arm. Microscopic examination of the skin biopsy revealed a well-defined dermal nodular lesion, surrounded by an epidermal collarette. Tumor cells were composed of epithelioid to spindle-shaped cells with round-to-oval nuclei, small nucleoli, and abundant eosinophilic cytoplasm with a syncytial-like growth pattern. A moderate degree of nuclear pleomorphism was noted. Mitotic activity was not prominent. Immunohistochemical staining revealed positive staining for epithelial membrane antigen, GLUT1, collagen IV, and S100. Smooth muscle actin, CD10, and CD68 showed patchy positivity. CD31, CD34, p63, SOX10, anaplastic lymphoma kinase (ALK), glial fibrillary acidic protein, pankeratin (AE1/AE3/PCK26), Melan-A, and CD1a were negative. Fluorescence in situ hybridization targeting TFE3 and ALK genes was negative. The differential diagnosis included ALK-negative epithelioid cell histiocytoma, epithelioid perineurioma, and CSM. Based on the above findings, a diagnosis of CSM was rendered. Discussion: CSM is a benign cutaneous neoplasm composed of sheets of histiocytoid or short spindle cells with pale eosinophilic cytoplasm with a syncytial-like growth pattern. Clinically, CSM often presents as a painless, slow-growing nodule or plaque in a broad anatomical distribution with a preference for the distal extremities.. CSM is characteristically positive for epithelial membrane antigen (EMA) and S100 protein and negative for keratins. In challenging cases, molecular testing for EWSR1 gene rearrangement and EWSR1-PBX3 gene fusion aid in confirming the diagnosis. Conclusions: The histologic features of CSM present a unique set of challenges posing a diagnostic dilemma, as they can bear resemblance to a range of benign and malignant cutaneous neoplasms including ALK-negative epithelioid cell histiocytoma, epithelioid perineurioma, malignant or nevoid melanoma, and epithelioid sarcoma. An accurate diagnosis is crucial for guiding proper clinical management considering that this entity typically demonstrates an excellent prognosis following a complete surgical excision.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cutaneous Syncytial Myoepithelioma: An Uncommon and Distinct Variant of Cutaneous Epithelioid Neoplasm

Shaker,

Phelps,

Niedt

et al. 2024

The American Journal of Dermatopathology

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“…PEComas should be distinguished from mesenchymal neoplasms that display melanocyte expression, such as smooth muscle or melanocyte-differentiated tumors like paragangliomas, clear cell sarcomas, alveolar soft part sarcomas (ASPS), and malignant melanomas [ 19 ]. The consideration of next generation sequencing may aid in distinguishing between malignant PEComa and metastatic melanoma [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

A retrospective clinical analysis of 11 cases of PEComa from different sites

Yan,

Zhou,

Wang

et al. 2024

World J Surg Onc

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Purpose The objective of this paper is to offer a thorough examination of the clinical presentations, etiology, and treatment strategies associated with perivascular epithelioid cell tumors (PEComas). Methods This retrospective study examined the comprehensive archival data of PEComa cases diagnosed at Beijing Hospital from 2015 to 2023. The pathology slides of all patients were thoroughly reassessed by two experienced pathologists. A thorough retrospective analysis was undertaken, incorporating clinicopathological data including gender, age at diagnosis, initial clinical manifestations, signs, disease onset site, tumor markers, imaging findings, therapeutic modalities, pathological features, immunohistochemical profiles, treatment responses, and prognostic indicators. Patients were evaluated for disease severity according to established pathological classification criteria and were followed up until the designated analysis cut-off date. In instances where patients were unable to be monitored on-site, they were contacted via telephone for postoperative follow-up inquiries. Results This study included 11 patients with ages ranging from 17 to 66 years old, presenting with the disease in multiple anatomical sites, including the retroperitoneum (2/11), liver (4/11), kidney (4/11), lung (1/11), and broad ligament of the uterus (1/11). Most patients presented with non-specific clinical symptoms and were subsequently diagnosed with space-occupying lesions upon physical examination. The tumor demonstrated progressive growth and enlargement, which could result in compression of neighboring organs. Preoperative imaging alone is insufficient for a definitive diagnosis of PEComa, but MRI can provide an initial evaluation of the tumor’s potential malignancy. Molecular marker testing specific to PEComa, such as HMB-45 (90.0%), SMA (81.8%), Melan-A (90.9%), vimentin (90.9%), and Desmin (36.3%), was conducted on all patients. No adjuvant therapies were administered postoperatively. Upon analysis, no instances of relapse at the primary site or the development of new tumors at other sites were observed. Regular imaging reviews of three patients with malignant PEComa post-surgery showed no evidence of recurrence. Conclusions The clinical presentation, tumor biomarkers, and imaging characteristics of PEComa lack specificity, necessitating dependence on pathology and immunohistochemistry for precise diagnosis. The mainstay of treatment consists of surgical resection, with patients typically experiencing a favorable prognosis.

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“…Neoplastic cells demonstrate minimal cytologic atypia with a pale eosinophilic cytoplasm [11]. Epithelioid angiosarcoma, a variant of angiosarcoma, displays round or polygonal epithelioid cells with abundant eosinophilic cytoplasm, vesicular nuclei, and prominent nucleoli [12]. GNA14 mutations have been reported in some Kaposiform hemangioendothelioma cases, while various mutations are found in angiosarcomas.…”

Section: Discussionmentioning

confidence: 99%

Congenital Disseminated Malignant Rhabdoid Tumor Mimicking a Vascular Lesion

Wang,

Mannam,

Dukleska

et al. 2024

Cureus

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A congenital disseminated malignant rhabdoid tumor (MRT) is an exceedingly rare and aggressive pediatric cancer marked by the presence of malignant rhabdoid cells in various organs, including the brain, kidneys, and soft tissues, at birth. It is often detected prenatally or shortly post-birth. The malignancy's aggressiveness results in a bleak prognosis, offering limited treatment options and low survival rates. Early diagnosis and comprehensive medical intervention are crucial, but managing this condition is complicated by its rarity. We herein presented a case of a 37 and 1/7 week gestation male infant with a rapidly growing arm soft tissue mass within two weeks, diagnosed as an MRT. Post-delivery examinations revealed multiple lesions in the lungs, kidney, liver, and adrenal glands. Notably, chemotherapy yielded a significant improvement in the arm lesion, contrasting with other lesions showing a limited response. This observation suggests potential tumor heterogeneity, emphasizing the necessity of diverse therapeutic regimens. Our case underscores the complexities of congenital disseminated MRT, prompting a reevaluation of treatment strategies for enhanced efficacy in managing this challenging pediatric cancer.

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Mesenchymal tumours with melanocytic expression: a potential pitfall in the differential diagnosis of malignant melanoma

Cited by 8 publications

References 38 publications

Cutaneous Syncytial Myoepithelioma: An Uncommon and Distinct Variant of Cutaneous Epithelioid Neoplasm

Cutaneous Syncytial Myoepithelioma: An Uncommon and Distinct Variant of Cutaneous Epithelioid Neoplasm

A retrospective clinical analysis of 11 cases of PEComa from different sites

Congenital Disseminated Malignant Rhabdoid Tumor Mimicking a Vascular Lesion

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