Superficial desmoplastic fibroblastoma (collagenous fibroma): Clinicopathologic study of 11 cases.

BACKGROUND: Desmoplastic fibroblastoma (collagenous fibroma) is a rare soft tissue tumor that usually arises in the subcutis or skeletal muscle. Cases superficial to fascia are unusual and can cause diagnostic difficulty. We present 11 cases of superficial desmoplastic fibroblastoma involving a wide anatomic distribution. METHODS: Archives were searched using the term "desmoplastic fibroblastoma" over a 10-year period (2012-2022). Cases superficial to fascia were retrieved, and available clinicopathologic features were recorded. Only cases involving the dermis were included. RESULTS: Eleven cases were identified, all of which were received in consultation. Tumors involved the head and neck (2), lower extremity (2), back (2), foot (1), shoulder (1), axilla (1), hand (1), and breast (1). Each consisted of a hypocellular proliferation of bland stellate to spindled fibroblasts set in a collagenous to focally myxoid stroma. The immunohistochemical stains available for review demonstrated SMA positivity (4/7) and negative immunoreactivity for CD34 (0/6), EMA (0/3), desmin (0/3), and S100 (0/7). CONCLUSIONS: Desmoplastic fibroblastoma may present superficially in the dermis to subcutis, posing a potential source of diagnostic difficulty. Recognition of the characteristic histopathologic features of desmoplastic fibroblastoma with judicial use of immunohistochemical stains should allow for accurate diagnosis.

Plasma Cell-Predominant Lichen Planopilaris.

ABSTRACT: Lichen planopilaris (LPP) is a scarring alopecia that is characterized by a lichenoid interface infiltrate with follicular extension. We present a case of LPP composed predominantly of plasma cells in a 52-year-old man. The patient was originally diagnosed with scalp psoriasis 30 years before presentation. Punch biopsies performed at an outside institution 2 years before presentation revealed lymphocyte-predominant LPP. After referral to the senior author's institution due to inadequate response to therapy, biopsies demonstrated a robust, superficial, and deep lichenoid interface dermatitis composed predominantly of plasma cells. Immunohistochemical and special staining for CD138, MUM-1, kappa and lambda light chains, immunoglobulin G4, CD3, CD20, PAX5, CD5, CD7, CD4, CD8, CD43, CD123, Gram, Grocott's methenamine silver stain, treponemal antibody, colloidal iron, and Movat showed a scarring alopecia and were not supportive of a hematolymphoid, infectious, or autoimmune etiology. B-cell clonality studies were below the threshold needed for definitive diagnosis of a clonal process. Doxycycline and hydroxychloroquine were subsequently added to the patient's treatment regimen, leading to an improvement of symptoms. We present this case to bring awareness to this unusual feature and discuss its differential diagnosis.

YAP1-TFE3-fused hemangioendothelioma: a multi-institutional clinicopathologic study of 24 genetically-confirmed cases.

YAP1-TFE3-fused hemangioendothelioma is an extremely rare malignant vascular tumor. We present the largest multi-institutional clinicopathologic study of YAP1-TFE3-fused hemangioendothelioma to date. The 24 cases of YAP1-TFE3-fused hemangioendothelioma showed a female predominance (17 female, 7 male) across a wide age range (20-78 years old, median 44). Tumors were most commonly located in soft tissue (50%), followed by bone (29%), lung (13%), and liver (8%), ranging from 3 to 115 mm in size (median 40 mm). About two-thirds presented with multifocal disease, including 7 cases with distant organ metastasis. Histopathologically, we describe three dominant architectural patterns: solid sheets of coalescing nests, pseudoalveolar and (pseudo)vasoformative pattern, and discohesive strands and clusters of cells set in a myxoid to myxohyaline stroma. These patterns were present in variable proportions across different tumors and often coexisted within the same tumor. The dominant cytomorphology (88%) was large epithelioid cells with abundant, glassy eosinophilic to vacuolated cytoplasm, prominent nucleoli and well-demarcated cell borders. Multinucleated or binucleated cells, prominent admixed erythrocytic and lymphocytic infiltrates, and intratumoral fat were frequently present. Immunohistochemically, ERG, CD31, and TFE3 were consistently expressed, while expression of CD34 (83%) and cytokeratin AE1/AE3 (20%) was variable. CAMTA1 was negative in all but one case. All cases were confirmed by molecular testing to harbor YAP1-TFE3 gene fusions: majority with YAP1 exon 1 fused to TFE3 exon 4 (88%), or less commonly, TFE3 exon 6 (12%). Most patients (88%) were treated with primary surgical resection. Over a follow-up period of 4-360 months (median 36 months) in 17 cases, 35% of patients remained alive without disease, and 47% survived many years with stable, albeit multifocal and/or metastatic disease. Five-year progression-free survival probability was 88%. We propose categorizing YAP1-TFE3-fused hemangioendothelioma as a distinct disease entity given its unique clinical and histopathologic characteristics in comparison to conventional epithelioid hemangioendothelioma.

p16 Range of expression in dermal predominant benign epithelioid and spindled nevi and melanoma.

BACKGROUND: Screening borderline Spitz tumors with p16 immunohistochemistry (IHC) 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 > 0.5 mm were stained for p16. RESULTS: Lesions showed either a single uniform pattern of expression (single/homogeneous pattern: positive, checkerboard, rare, or lost) or multiple regionally distributed patterns (multiple/heterogeneous pattern). Most cases (78%, n = 81) showed single pattern expression. Within single pattern cases, total loss was restricted to melanoma (7/81/9%). Multiple patterns were more common in melanoma (12/23, 52%). Within multiple pattern (22%, n = 23) lesions, those with a total loss component (7/23; 30%) were malignant. Total p16 loss (diffuse or regional) was not seen in a subset of nevoid melanomas (1/8; 12.5%), melanomas arising in nevi (2/6; 33%), and non-nevoid melanomas (6/9; 66%). Total p16 loss (single pattern or part of multiple patterns) captured 61% (14/23) of melanomas and no nevi. CONCLUSION: p16 IHC may be useful in dermal-based melanocytic lesions. Total p16 loss is seen only in melanoma. Multiple pattern expression should prompt careful evaluation.