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1.
Am J Med Genet A ; 170A(1): 189-94, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26360803

ABSTRACT

Genetic mosaicism for somatic mutations of oncogenes is common in genodermatoses, which can be complicated with extra-cutaneous abnormalities. Here we describe an infant with a congenital anaplastic astrocytoma, a linear syringocystadenoma papilliferum, and ocular abnormalities. The BRAF c.1799T>A p.V600E mutation was detected in both the brain and skin tumor cells but not in the blood or normal skin cells, suggesting somatic mosaicsism for the mutation. Clinically, the brain tumor gradually became life threatening without any response to conventional chemotherapies including carboplatin, etoposide, and temozolomide. Vemurafenib, a BRAF p.V600E inhibitor, was administered daily after the detection of the BRAF mutation. This single-agent therapy was dramatically effective against the anaplastic astrocytoma; the tumor regressed, the cerebrospinal fluid cell count and protein levels decreased to normal levels, and hydrocephalus resolved. Moreover, other lesions including a corneal cyst also responded to vemurafenib. The brain tumor continued shrinking after 6 months of treatment. We present a genodermatosis syndrome associated with BRAF c.1799T>A p.V600E mosaicism. This syndrome may represent a new entity in the mosaic RASopathies, partly overlapping with Schimmelpenning-Feuerstein-Mims syndrome, which is driven by mosaicism of HRAS and/or KRAS activating mutations. Screening for BRAF c.1799T>A p.V600E is especially useful for those with malignant tumors, because it is one of the most-druggable targets.


Subject(s)
Adenoma, Sweat Gland/genetics , Astrocytoma/genetics , Brain Neoplasms/genetics , Proto-Oncogene Proteins B-raf/genetics , Sweat Gland Neoplasms/genetics , Adenoma, Sweat Gland/drug therapy , Astrocytoma/drug therapy , Brain Neoplasms/drug therapy , Eye/pathology , Eye Abnormalities/genetics , Humans , Indoles/therapeutic use , Infant , Mosaicism , Nevus, Sebaceous of Jadassohn/genetics , Premature Birth , Proto-Oncogene Proteins B-raf/antagonists & inhibitors , Sulfonamides/therapeutic use , Sweat Gland Neoplasms/drug therapy , Vemurafenib
2.
Nephrol Dial Transplant ; 24(2): 682-5, 2009 Feb.
Article in English | MEDLINE | ID: mdl-19054798

ABSTRACT

BACKGROUND: Drugs targeting the VEGF pathway are associated with renal adverse events, including proteinuria, hypertension and thrombotic microangiopathy (TMA). Most cases of TMA are reported secondary to bevacizumab. It was shown recently that sunitinib, a small molecule inhibiting several tyrosine kinase receptors, including VEGF receptors, can also induce proteinuria, hypertension and biological features of TMA. Case. A 44-year-old woman with a history of malignant skin hidradenoma was started on sunitinib for refractory disease. She developed hypertension after 2 weeks and low-grade proteinuria after 4 weeks. Renal function remained normal, and biological signs of TMA were absent. A renal biopsy was performed 6 months later as proteinuria persisted, demonstrating typical features of TMA. The patient was given irbesartan, and sunitinib was continued for 3 months after diagnosis. Over this period, blood pressure and renal function remained stable and proteinuria became undetectable. CONCLUSION: We report on the first case of histologically documented TMA secondary to sunitinib and provide detailed description of renal histological involvement. This suggests that all anti-VEGF drugs may share a common risk for developing renal adverse events, including TMA. Our case highlights the possible discrepancy between mild clinical manifestation on one hand and severe TMA features on renal biopsy on the other hand and pleads for large indication of renal biopsy in this setting. The renin-angiotensin system blockers may be considered in patients with mild clinical manifestations and in the absence of therapeutic alternative to anti-VEGF drugs.


Subject(s)
Indoles/adverse effects , Kidney/blood supply , Kidney/drug effects , Pyrroles/adverse effects , Thrombosis/chemically induced , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Adenoma, Sweat Gland/drug therapy , Adult , Antineoplastic Agents/adverse effects , Female , Humans , Kidney/pathology , Protein Kinase Inhibitors/adverse effects , Skin Neoplasms/drug therapy , Sunitinib , Thrombosis/pathology
4.
J Cutan Pathol ; 34(1): 49-54, 2007 Jan.
Article in English | MEDLINE | ID: mdl-17214855

ABSTRACT

A 44-year-old man was referred for a right chest nodule of 3 months duration. A 'benign' nodule had been excised from this location 8 years prior. On examination, palpable nodes were noted in the right axilla. Radiographic studies were significant only for right axillary lymphadenopathy. Histologically, a nodular dermal proliferation composed of poorly differentiated epithelioid cells in nests and focally forming ducts with pseudopapillary architecture comprised the primary tumor. Features of a clear cell hidradenoma were noted focally. Immunohistochemical (IHC) analysis revealed reactivity for HMW cytokeratins, CK5 and CK7, p53, p63, CEA (focal), androgen receptor, EGFR, estrogen receptor (ER), MUC5AC, and strong/diffuse membranous staining for Her-2/neu. Negative stains included villin, TTF-1, CDX2, S-100 protein, vimentin, gross cystic disease fluid protein 15 (GCDFP-15), mammoglobulin, and MUC2. A wide local excision and axillary node dissection was performed. Metastatic tumor involved nine of 28 nodes. Interphase fluorescence in situ hybridization (FISH) demonstrated chromosomal amplification of the Her-2/neu locus within the tumor and a nodal metastasis. The patient has completed adjuvant and radiotherapy, including trastuzumab, and is asymptomatic. We believe this to be the first demonstration of Her-2/neu amplification in a malignant skin adnexal tumor. In analogy to breast carcinoma, these findings suggest the applicability of trastuzumab for patients with metastatic adnexal carcinomas demonstrating Her-2/neu amplification.


Subject(s)
Adenoma, Sweat Gland/genetics , Gene Amplification , Genes, erbB-2 , In Situ Hybridization, Fluorescence , Lymphatic Metastasis/genetics , Sweat Gland Neoplasms/pathology , Adenoma, Sweat Gland/drug therapy , Adenoma, Sweat Gland/metabolism , Adenoma, Sweat Gland/surgery , Adult , Antibodies, Monoclonal/therapeutic use , Antibodies, Monoclonal, Humanized , Antineoplastic Agents/therapeutic use , Axilla , Humans , Immunohistochemistry , Lymph Node Excision , Lymphatic Metastasis/pathology , Male , Radiotherapy, Adjuvant , Sweat Gland Neoplasms/genetics , Thoracic Wall , Trastuzumab
6.
Arch Pathol Lab Med ; 126(5): 591-4, 2002 May.
Article in English | MEDLINE | ID: mdl-11958666

ABSTRACT

Malignant transformation of eccrine spiradenoma is extremely rare. We describe the case of a 70-year-old man with malignant eccrine spiradenoma of the forearm and metastases to the axillary lymph nodes. Surgical excision with adequate margins and lymph node dissection was performed. Tamoxifen therapy was instituted after obtaining positive immunostaining results for estrogen receptor. After 41 months of follow-up, there has been no recurrence or distant metastases. Wide local excision and close follow-up are crucial in the management of malignant eccrine spiradenoma. The role of other therapeutic modalities, including hormonal therapy, remains to be determined.


Subject(s)
Adenoma, Sweat Gland/pathology , Sweat Gland Neoplasms/pathology , Adenoma, Sweat Gland/drug therapy , Adenoma, Sweat Gland/surgery , Aged , Humans , Immunohistochemistry , Lymph Node Excision , Lymph Nodes/pathology , Lymphatic Metastasis/pathology , Male , Receptors, Estrogen/analysis , Selective Estrogen Receptor Modulators/therapeutic use , Sweat Gland Neoplasms/drug therapy , Sweat Gland Neoplasms/surgery , Tamoxifen/therapeutic use
7.
J Dermatol ; 26(1): 36-43, 1999 Jan.
Article in English | MEDLINE | ID: mdl-10063211

ABSTRACT

A 33-year-old man with ectodermal dysplasia (ED) has suffered from keratotic, exudative, erythematous plaques on the genital area, thighs, and soles since age 17. Verrucous soft nodules in a cobblestone arrangement developed on the erythematous plaque on his left thigh when he was 31 years old. Histologic examination of the verrucous nodules demonstrated that they were composed of anastomosing thin cords of uniform, cuboidal, epithelial cells and a fibrovascular stroma. The changes are indicative of eccrine syringofibroadenoma of Mascaro (ESFA), which has been reported as a neoplasm, a hamartoma, or a nevus. With etretinate treatment, the verrucous nodules completely disappeared within two months. Similar, but much flatter, verrucous lesions recurred and disappeared twice during the subsequent two years period. These verrucous lesions were likely induced by irritation from urine, stool, and/or mechanical friction. This case of ESFA in a patient with ED clearly showed a reactive process which was successfully managed with oral etretinate.


Subject(s)
Adenoma, Sweat Gland/complications , Ectodermal Dysplasia/complications , Fibroadenoma/complications , Sweat Gland Neoplasms/complications , Adenoma, Sweat Gland/drug therapy , Adenoma, Sweat Gland/pathology , Administration, Oral , Adult , Ectodermal Dysplasia/pathology , Etretinate/administration & dosage , Fibroadenoma/drug therapy , Fibroadenoma/pathology , Humans , Keratolytic Agents/administration & dosage , Male , Skin/pathology , Sweat Gland Neoplasms/drug therapy , Sweat Gland Neoplasms/pathology
8.
Hautarzt ; 46(2): 107-13, 1995 Feb.
Article in German | MEDLINE | ID: mdl-7706067

ABSTRACT

We report on a 63-year-old female patient with Muir-Torre syndrome (MTS). In the course of this disease two carcinomas of the colon, a kerato-acanthoma and multiple sebaceous gland tumours, including four sebaceous carcinomas, appeared. This case is thought to be a hereditary form as one of daughters was also found to have a sebaceous epithelioma. MTS is a mostly autosomal-dominant disease with the association of sebaceous gland tumours and internal carcinomas. As the malignant tumours only show slight aggressiveness the prognosis is quite favourable. Oral isotretinoin therapy was successfully used for the inhibition of sebaceous gland proliferation. A narrower definition is presented and an updated survey of the published cases is given. Furthermore, the histopathologic peculiarities of sebaceous gland tumours, especially of sebaceous gland carcinomas, are discussed and compared to sebaceous gland tumours not connected with MTS. A total number of 100 of the 135 published cases of MTS were included and analysed regarding sebaceous gland tumours and other skin tumours. The data on internal carcinomas were taken from the work of Cohen et al. (1991) and 11 current cases were added.


Subject(s)
Adenocarcinoma/genetics , Adenoma, Sweat Gland/genetics , Carcinoma/genetics , Neoplasms, Multiple Primary/genetics , Neoplastic Syndromes, Hereditary/genetics , Sebaceous Gland Neoplasms/genetics , Adenocarcinoma/drug therapy , Adenocarcinoma/pathology , Adenoma, Sweat Gland/drug therapy , Adenoma, Sweat Gland/pathology , Adenomatous Polyposis Coli/drug therapy , Adenomatous Polyposis Coli/genetics , Adenomatous Polyposis Coli/pathology , Administration, Oral , Carcinoma/drug therapy , Carcinoma/pathology , Carcinoma, Squamous Cell/drug therapy , Carcinoma, Squamous Cell/genetics , Carcinoma, Squamous Cell/pathology , Chromosome Aberrations/genetics , Chromosome Disorders , Diagnosis, Differential , Facial Neoplasms/drug therapy , Facial Neoplasms/genetics , Facial Neoplasms/pathology , Female , Genes, Dominant/genetics , Humans , Isotretinoin/therapeutic use , Keratoacanthoma/drug therapy , Keratoacanthoma/genetics , Keratoacanthoma/pathology , Middle Aged , Neoplasm Recurrence, Local/drug therapy , Neoplasm Recurrence, Local/genetics , Neoplasm Recurrence, Local/pathology , Neoplasms, Multiple Primary/drug therapy , Neoplasms, Multiple Primary/pathology , Neoplastic Syndromes, Hereditary/drug therapy , Neoplastic Syndromes, Hereditary/pathology , Sebaceous Gland Neoplasms/drug therapy , Sebaceous Gland Neoplasms/pathology , Sweat Glands/pathology , Syndrome
9.
Z Hautkr ; 60(12): 992-9, 1985 Jun 15.
Article in German | MEDLINE | ID: mdl-2992177

ABSTRACT

We report on a 82-year-old woman suffering from malignant eccrine poroma on her back. The infiltrated surrounding tissue suggested lymphangiosis carcinomatosa; one axillary lymph node was enlarged. Both features, however, turned out to be only of inflammatory nature.


Subject(s)
Adenoma, Sweat Gland/pathology , Skin Neoplasms/pathology , Adenoma, Sweat Gland/drug therapy , Adenoma, Sweat Gland/surgery , Aged , Combined Modality Therapy , Doxycycline/therapeutic use , Female , Humans , Skin/pathology , Skin Neoplasms/drug therapy , Skin Neoplasms/surgery , Thorax
11.
Ann Intern Med ; 99(4): 486-8, 1983 Oct.
Article in English | MEDLINE | ID: mdl-6312862

ABSTRACT

In treating a patient with a malignant eccrine poroma, in-vitro studies suggested resistance to dactinomycin and doxorubicin. A trial of weekly 5-fluorouracil produced no response. Likewise, a cycle of cisplatinum and cytarabine was associated with continued progression of the disease. Use of 13-cis retinoic acid induced a partial remission that lasted for 8 weeks with minimal toxicity. The mechanism of action is not known, but local tumor necrosis with sparing of the adjacent normal tissue suggests high specificity.


Subject(s)
Adenoma, Sweat Gland/drug therapy , Sweat Gland Neoplasms/drug therapy , Tretinoin/therapeutic use , Adenoma, Sweat Gland/surgery , Antineoplastic Agents/administration & dosage , Drug Therapy, Combination , Humans , Isotretinoin , Lung Neoplasms/secondary , Male , Middle Aged , Neoplasm Invasiveness , Neoplasm Recurrence, Local/drug therapy , Neoplasms, Multiple Primary , Sweat Gland Neoplasms/surgery , Thigh
12.
Med Cutan Ibero Lat Am ; 8(4-6): 85-94, 1980.
Article in Spanish | MEDLINE | ID: mdl-6168876

ABSTRACT

The clinico-pathological and therapeutics features of two cases of nodular hidradenoma are reported. The polymorphic microscopic picture that characterizes this peculiar tumor can be seen in one of our observations. The other case belongs to the variety called "clear cell hidradenoma". The latter of big size and with local adenopathies showed a prompt regression to treatment with bleomycin.


Subject(s)
Adenoma, Sweat Gland/pathology , Skin Neoplasms/pathology , Adenoma, Sweat Gland/drug therapy , Adenoma, Sweat Gland/surgery , Adult , Aged , Biopsy , Bleomycin/therapeutic use , Female , Humans , Skin/pathology , Skin Neoplasms/drug therapy , Skin Neoplasms/surgery
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