Key Points
Biallelic mutations in CSF3R must be considered as a novel genetic subtype in patients with congenital neutropenia. The p.Arg308Cys mutation in CSF3R leads to altered G-CSF receptor glycosylation and surface expression and abrogated downstream signaling.
Benign lymphangioendothelioma is a rare locally infiltrative vascular neoplasm, presenting as a slow-growing, asymptomatic, reddish-violaceous plaque. Histopathologically, it is characterized by irregular and thin-walled vascular spaces, lined by a single and discontinuous layer of flat endothelial cells, dissecting dermal collagen bundles. We present the case of a 75-year-old man with a giant benign lymphangioendothelioma, to our knowledge, the largest example described in the literature. The immunohistochemical expression of Wilms tumor 1 gene is useful in vascular lesions to differentiate malformations from proliferative endothelial lesions. In our case, the positivity for WT1 supports the neoplastic nature of this lesion.
The term hemangioendothelioma has been used in recent years to name a heterogeneous group of vascular neoplasms, intermediate in both biological behavior and histopathologic appearance between benign tumors (hemangiomas) and frankly malignant tumors (angiosarcomas). Thus, within the spectrum of hemangioendothelioma have been successively included epithelioid hemangioendothelioma, spindle cell hemangioendothelioma, retiform hemangioendothelioma, kaposiform hemangioendothelioma, polymorphous hemagioendothelioma of the lymph nodes, papillary intralymphatic angioendothelioma (PILA) and composite hemangioendothelioma. The latter is a vascular neoplasm showing varying combinations of benign, low-grade malignant and malignant vascular components. We herein report a case of composite hemangioendothelioma showing a combination of retiform hemangioendothelioma, epithelioid hemangioendothelioma, spindle cell hemangioma and PILA. The neoplasm showed a more aggressive behavior than other reported cases of composite hemangioendothelioma and it developed satellitosis and metastases to the inguinal lymph nodes. Neoplastic cells expressed immunoreactivity for Prox-1, supporting a lymphatic line of differentiation.
We present a 48-year-old man with a 1-year history of nodular lesion on the chest. On clinical examination, the tumor was ulcerated and had a translucent appearance with an erythematous halo. Histopathologic examination revealed a nodular lesion that comprised the upper half of the dermis and ulcerated the epidermis. The neoplasm was composed of 2 intermingled components: nests of atypical melanocytes and basaloid epithelial cells. Immunohistochemical stains confirmed 2 immunophenotypically distinct components. The melanocytic component expressed the usual melanocyte markers S100 protein, HMB45, Melan A, and MiTF1, whereas the second population of epithelial neoplastic cells expressed pan-cytokeratin-MNF116, Ber-Ep4, cytokeratin 14, beta-catenin, and pleckstrin homology-like domain, family A, member 1 positivity. On the basis of these immunohistochemical findings, a diagnosis of trichoblastomelanoma was established. Biphasic cutaneous neoplasms composed of melanocytes and epithelial cells are extremely rare, and to the best of our knowledge, this is the first description in the literature of a combination of trichoblastoma and melanoma in the same neoplasm.
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