Sebaceous carcinoma is a rare malignant tumor of the sebaceous glands. Sebaceous carcinoma occurs mainly in the head and neck region, rarely in trunk. Case report: We present a case report of 63-year-old patient, operated on for sebaceous carcinoma in the right breast area. The patient underwent radical surgery, removal of the tumor with the skin, subcutaneous tissue, and the large pectoral muscle. The patient is in good clinical condition eight months after the surgery. She is being constantly monitored and so far, there are neither signs of local recurrence nor tumor progression. Conclusion: Patients with rare tumors should be treated comprehensively with subsequent lifelong dispensarisation in specialized centers. Multidisciplinary medical teams are able to eruditely diagnose, recognize, treat and dispense patients.

• Klíčová slova
• breast sebaceous carcinoma, sebaceous carcinoma,
• MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory kůže * patologie   MeSH
• nádory mazových žláz * diagnóza   patologie   chirurgie   MeSH
• sebaceózní adenokarcinom * diagnóza   patologie   chirurgie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Sebaceous neoplasms occur sporadically or in the setting of Muir-Torre syndrome. The data regarding the correlation of pathologic features and DNA mismatch repair (MMR) staining pattern in sebaceous tumors of the skin are very scanty and based on relatively small series of patients. The goal of this study was to correlate MMR staining pattern with selected morphological features in a series of 145 sebaceous neoplasms (sebaceous adenoma, sebaceoma, and extraocular sebaceous carcinoma) from 136 patients. Cystic change, intratumoral mucin deposits, squamous metaplasia in the absence of keratoacanthoma-like changes, ulceration, intratumoral and peritumoral lymphocytes (in cases without epidermal ulceration), and intertumoral heterogeneity proved to be significantly associated with MMR deficiency. Identification of any of these changes, alone or in combination, should prompt further investigation of the patient to exclude Muir-Torre Syndrome. Our study also confirms the previously published observation that the diagnosis and tumor location are significantly associated with MMR deficiency.

• MeSH
• adenom metabolismus   patologie   MeSH
• DNA vazebné proteiny metabolismus   MeSH
• dospělí MeSH
• homolog 2 proteinu MutS metabolismus   MeSH
• imunohistochemie MeSH
• karcinom metabolismus   patologie   MeSH
• končetiny MeSH
• lidé středního věku MeSH
• lidé MeSH
• mismatch repair endonukleáza PMS2 metabolismus   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• MutL homolog 1 metabolismus   MeSH
• nádory hlavy a krku metabolismus   patologie   MeSH
• nádory mazových žláz metabolismus   patologie   MeSH
• obličej MeSH
• oprava chybného párování bází DNA MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• skalp MeSH
• trup MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• DNA vazebné proteiny MeSH
• G-T mismatch-binding protein MeSH Prohlížeč
• homolog 2 proteinu MutS MeSH
• mismatch repair endonukleáza PMS2 MeSH
• MLH1 protein, human MeSH Prohlížeč
• MSH2 protein, human MeSH Prohlížeč
• MutL homolog 1 MeSH
• PMS2 protein, human MeSH Prohlížeč

Sebaceous carcinoma in situ (SCIS) is a rare intraepidermal neoplasia, mostly occurring on the eyelid and the face. Despite abundant literature on invasive sebaceous carcinoma, there are relatively few articles about SCIS. We report the case of 78-year-old woman suffering from SCIS of the left cheek, presenting as an erythematous skin lesion. The histological examination revealed intraepidermal and intraadnexal population of atypical cells with foamy cytoplasm and with immunohistochemical adipophilin-, cytokeratin-7- and EMA-positivity in the tumor cells.

• Klíčová slova
• Cryotherapy, Histology, Intraepidermal carcinoma, Sebaceous gland neoplasms, Skin biopsy,
• MeSH
• karcinom in situ * diagnóza   MeSH
• lidé MeSH
• nádory kůže * diagnóza   MeSH
• nádory mazových žláz * diagnóza   MeSH
• perilipin 2 MeSH
• sebaceózní adenokarcinom * diagnóza   MeSH
• senioři MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• perilipin 2 MeSH

Sebaceous neoplasms with an organoid pattern (rippled, labyrinthine/sinusoidal, carcinoid-like, and petaloid) are rare. Previous studies suggested that the above patterns likely represent variations along a morphological continuum. The objectives of this study were to (1) validate this proposition by studying a large number of cases, (2) determine whether there are specific associations with clinical features, (3) establish their frequency, and (4) determine whether they have any association with Muir-Torre syndrome. Fifty-seven sebaceous neoplasms (54 sebaceomas and 3 sebaceous carcinomas) with organoid growth patterns were studied. These occurred in 36 men and 18 women (sex unknown in 3), with ages at diagnosis ranging from 22 to 89 years (mean, 63 years). All patients presented with a solitary nodule (mean size, 11 mm) on the head and neck area. Of the 57 tumors, 24 manifested a single growth pattern, 23 had a combination of 2 patterns, and 10 a combination of 3 patterns, indicating that these patterns are part of a morphological continuum of changes. The carcinoid-like pattern was the most frequent in the "monopatterned" neoplasms (13 cases), whereas the labyrinthine/sinusoidal pattern comprised most of the "polypatterned" lesions, in which various combinations occurred. Immunohistochemically, mismatch repair protein deficiency was detected in 3 of the 22 cases studied, whereas 5 of the 33 patients with available follow-up had an internal malignancy/premalignancy. In conclusion, sebaceous neoplasms with organoid growth patterns are predominantly sebaceomas having a predilection for the scalp, occurring as solitary lesions in elderly patients (male to female ratio of 2:1). Such patterns are expected to be found in a quarter of sebaceomas. In most cases, more than one of the organoid patterns is present. These lesions do not appear to be associated with internal malignancy or mismatch repair deficiency in most cases. However, confirmation of the absence of any significant association with Muir-Torre syndrome syndrome will require genetic studies.

• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• nádory mazových žláz etiologie   patologie   MeSH
• oprava chybného párování bází DNA genetika   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Torrého-Muirův syndrom komplikace   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

The histopathological diagnosis of periocular sebaceous carcinoma can be difficult in poorly differentiated cases showing few mature sebocytes. The authors examined 50 periocular sebaceous carcinomas from 46 patients to determine the frequency of 2 features seen in this neoplasm, namely cells with squared-off nuclei and so-called "appliqué" pattern (peritumoral subnecrosis of peripherally located neoplastic cells). Neoplastic cells with squared-off nuclei were found in varying numbers in both the intraepithelial and dermal (invasive) components in all neoplasms, whereas the appliqué pattern was observed in a third of the cases. It is concluded that these features, taken together, may serve as a clue for the diagnosis of periocular sebaceous carcinoma.

• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• nádory mazových žláz patologie   MeSH
• nádory oka patologie   MeSH
• sebaceózní adenokarcinom patologie   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

We report the case of a 44-year-old female with sebaceous adenoma arising in mature cystic teratoma of the ovary. The patient had a tumor in the left ovary; 125 x 90 x 70 mm. Microscopically, the tumor consisted of structures typical of dermoid cysts. However, large areas of sebaceous proliferation were found. These areas were comprised of sebaceous nodules with features similar to a sebaceous adenoma of the skin. Immunohistochemically, the tumor showed "wild-type" expression of p53 and low proliferative activity (Ki-67 index < 5%). To verify the possibility of Muir-Torre syndrome we performed immunohistochemical examination of DNA mismatch repair proteins expression. However, all four proteins examined (MSH2, MSH6, MLH1, PMS2) were positive. Sebaceous adenoma arising in mature teratoma of the ovary is rare. To the best of our knowledge, only six cases have been reported in the literature to date.

• Klíčová slova
• sebaceous adenoma - mature cystic teratoma - ovary.,
• MeSH
• adenom * diagnóza   MeSH
• dermoidní cysta * diagnóza   MeSH
• dospělí MeSH
• lidé MeSH
• nádory vaječníků * diagnóza   MeSH
• ovarium MeSH
• teratom * diagnóza   MeSH
• Torrého-Muirův syndrom * diagnóza   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

A 76-year-old white male with a history of adenocarcinoma of the rectosigmoideum and multiple colonic polyps removed at the age of 38 and 39 years by an abdominoperitoneal amputation and total colectomy, respectively, presented with multiple whitish and yellowish papules on the face and a verrucous lesion on the trunk. The lesions were surgically removed during the next 3 years and a total of 13 lesions were investigated histologically. The diagnoses included 11 sebaceous adenomas, 1 low-grade sebaceous carcinoma, and 1 squamous cell carcinoma. In some sebaceous lesions, squamous metaplasia, intratumoral heterogeneity, mucinous changes, and peritumoral lymphocytes as sometimes seen in sebaceous lesions in Muir-Torre syndrome were noted. Mutation analysis of the peripheral blood revealed a germline mutation c.692G>A,p.(Arg231His) in exon 9 and c.1145G>A, p.(Gly382Asp) in exon 13 of the MUTYH gene. A KRAS mutation G12C (c.34G>T, p.Gly12Cys) was detected in 1 sebaceous adenoma and a NRAS mutation Q61K (c.181C>A, p.Gln61Lys) was found in 2 other sebaceous adenomas. No germline mutations in MLH1, MSH2, MSH6 and PMS2 genes, no microsatellite instability, no aberrant methylation of MLH1 promoter, and no somatic mutations in MSH2 and MSH6 were found. An identical MUTYH germline mutation was found in the patient's daughter. Despite striking clinicopathological similarities with Muir-Torre syndrome, the molecular biologic testing confirmed the final diagnosis of MUTYH-associated polyposis.

• MeSH
• biopsie MeSH
• dědičné nepolypózní kolorektální nádory enzymologie   genetika   patologie   MeSH
• dědičnost MeSH
• diferenciální diagnóza MeSH
• DNA-glykosylasy genetika   MeSH
• exony MeSH
• fenotyp MeSH
• genetická predispozice k nemoci MeSH
• lidé MeSH
• mutace * MeSH
• mutační analýza DNA MeSH
• nádorové biomarkery genetika   MeSH
• nádory mazových žláz enzymologie   genetika   patologie   MeSH
• rodokmen MeSH
• senioři MeSH
• Torrého-Muirův syndrom genetika   patologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• DNA-glykosylasy MeSH
• mutY adenine glycosylase MeSH Prohlížeč
• nádorové biomarkery MeSH

The authors describe 10 cases of sebaceoma that manifested prominent infundibulocystic structures in all cases and, additionally, conspicuous squamous metaplasia in 6 neoplasms. All tumors occurred on the scalp or the face (2 cases lacked clinical information) and presented as a solitary lesion, measuring from 5 to 20 mm. The patients' age ranged from 22 to 89 years. The main component of all tumors was small, uniform basaloid cells (immature sebocytes) intermixed with mature sebocytes clearly arranged in nodules, classifying the lesions as a sebaceoma. In all neoplasms, the tumor cells showed organoid growth patterns of sebaceoma, including rippled, sinusoidal/labyrinthine, and carcinoid-like, occurring alone or in combination. Additionally, numerous infundibulocystic structures were readily noticed and were either distributed multifocally or unilocular within the tumors. In some cases, they were segregated from the main tumor bulk. The authors posit that these structures, which are different from both sebaceous ductal differentiation and squamous metaplasia, represent an authentic follicular differentiation. The infundibulocystic features (combined with squamous metaplasia), when prominent and in a limited biopsy specimen, may cause a confusion with trichoadenoma or even microcystic adnexal carcinoma.

• MeSH
• dospělí MeSH
• epitelové buňky patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• metaplazie patologie   MeSH
• mladý dospělý MeSH
• nádory hlavy a krku patologie   MeSH
• nádory mazových žláz patologie   MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

This article reports an unusual case of aggressive extraocular sebaceous carcinoma located on the scalp with subsequent usurpation of the bone and penetrating through the bone and meninges to the brain in a 56-year-old man affected by Muir-Torre syndrome. Microscopically, the sebaceous neoplasm was located in the middle to deep dermis without any connection to the epidermis and showed a multinodular growth with neoplastic nodules with a central comedo-type necrosis separated from each other by fibrovascular stroma. The nodules were composed of varying proportions of mature sebaceous cells and atypical basaloid cells with high degree of atypia, including high nuclear/cytoplasmic ratio, nuclear pleomorphism, macronucleoli, atypical mitoses, and necrosis. The neoplasm was totally removed. Histopathological examinations of the recurrent lesion showed identical morphological features and, in addition, signs of the tumors growing through the periosteum were noted. In the final excision specimen, both the dura mater and the brain tissue were infiltrated by the sebaceous carcinoma. The diagnosis of Muir-Torre syndrome was confirmed by molecular genetic investigation that revealed an identical germline mutation in MSH2 gene in several family members, some of whom had colorectal tumors.

• MeSH
• biopsie MeSH
• dospělí MeSH
• fatální výsledek MeSH
• fenotyp MeSH
• genetická predispozice k nemoci MeSH
• homolog 2 proteinu MutS genetika   MeSH
• imunohistochemie MeSH
• invazivní růst nádoru MeSH
• karcinom genetika   patologie   chirurgie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mozek patologie   MeSH
• mutační analýza DNA MeSH
• nádory hlavy a krku genetika   patologie   chirurgie   MeSH
• nádory mazových žláz genetika   patologie   chirurgie   MeSH
• počítačová rentgenová tomografie MeSH
• progrese nemoci MeSH
• rodokmen MeSH
• skalp patologie   chirurgie   MeSH
• Torrého-Muirův syndrom genetika   patologie   chirurgie   MeSH
• zárodečné mutace MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• homolog 2 proteinu MutS MeSH
• MSH2 protein, human MeSH Prohlížeč

Sebaceous carcinoma of the breast is an exceedingly rare neoplasm. Little is known about the behavior and prognosis of this type of breast cancer. We report clinical, histological and immunohistochemical features of four cases of breast carcinoma with prominent (at least 50%) sebaceous differentiation. The tumors occurred in four women, aged 25-66, and were composed of cords, lobules and solid sheets of tumor cells with sebaceous differentiation, comprising 50-90% of the tumor mass. The second component consisted of cells with non-vacuolated cytoplasm, present mostly around the periphery of the lobules, or which formed separate tumor sheets with no evidence of sebaceous differentiation and were indistinguishable from a classical ductal carcinoma. Immunohistochemically, three tumors expressed hormone receptors; all cases were HER2-negative and had retained expression of the DNA mismatch repair proteins. Three patients had axillary lymph node metastases, and two patients had distant metastases: one in the liver, lung and bones, and one in the mediastinal and supraclavicular lymph nodes. One patient died 28 months after diagnosis, indicating that mammary sebaceous carcinoma is a potentially aggressive neoplasm. In contrast to extraocular cutaneous sebaceous carcinomas, mammary sebaceous carcinoma is probably unrelated to Muir-Torre syndrome. It should be differentiated from morphologically similar but biologically distinct lipid-rich carcinoma.

• MeSH
• biopsie MeSH
• buněčná diferenciace MeSH
• časové faktory MeSH
• dospělí MeSH
• fatální výsledek MeSH
• imunohistochemie MeSH
• karcinom chemie   patologie   sekundární   terapie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfatické metastázy MeSH
• nádorové biomarkery analýza   MeSH
• nádory jater sekundární   MeSH
• nádory kostí sekundární   MeSH
• nádory mazových žláz chemie   patologie   terapie   MeSH
• nádory plic sekundární   MeSH
• nádory prsu chemie   patologie   terapie   MeSH
• senioři MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH
• Názvy látek
• nádorové biomarkery MeSH