Cutaneous tumors with melanocytic differentiation represent a broad group of neoplasms of both melanocytic and non-melanocytic origin. Besides traditional members such as clear-cell sarcoma (CCS) and PEComa, the latter group has recently expanded to also include MITF::CREM fusion-associated tumors, but the available data are limited. Herein, we present a third case of this rare neoplasm which occurred in the temporal region in a 1-year-old girl. It was an infiltratively growing polypoid dermal-based lesion lacking an intraepidermal component. It consisted of cellular solid sheets or small nests of epithelioid to spindled cells with a predominantly eosinophilic and much less commonly clear cytoplasm. The nuclei had round to ovoid shape and exhibited moderate to high-grade atypia and prominent nucleoli. The mitotic activity was 11 mitoses per 10 high-power fields, and atypical mitotic figures were present. Immunohistochemically, the tumor was strongly positive with S100 protein, SOX10, and MITF, while HMB45, tyrosinase, and Melan A were negative. Extensive molecular analysis revealed only MITF::CREM gene fusion. There had no evidence of disease 9 months after the diagnosis. These tumors need to be distinguished from malignant tumors with melanocytic differentiation, primarily from melanoma. However, additional cases still need to be studied to precisely define their biological potential and establish their nosologic status.
- Klíčová slova
- Clear-cell sarcoma-like, Clear-cell tumor, Cutaneous, MITF::CREM fusion, Melanocytic differentiation, Melanoma-like, Skin,
- MeSH
- buněčná diferenciace MeSH
- kojenec MeSH
- lidé MeSH
- melanocyty patologie MeSH
- melanom * diagnóza MeSH
- modulátor elementu responzivního pro cyklický AMP metabolismus MeSH
- nádorové biomarkery analýza MeSH
- nádory kůže * patologie MeSH
- sarkom z jasných buněk * genetika MeSH
- transkripční faktor spojený s mikroftalmií genetika metabolismus MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- CREM protein, human MeSH Prohlížeč
- MITF protein, human MeSH Prohlížeč
- modulátor elementu responzivního pro cyklický AMP MeSH
- nádorové biomarkery MeSH
- transkripční faktor spojený s mikroftalmií MeSH
Similarly to testicular tumors, key changes on penile and scrotal neoplasia were incorporated into WHO classification 2016. Therein, penile squamous cell carcinomas were divided into two groups based on the pathogenesis, namely HPV-associated and HPV-independent. This remains unchanged in WHO classification 2022. For those carcinomas where HPV status can not be determined, a category of squamous cell carcinoma NOS was added. Variants of squamous cell carcinoma, namely basaloid, papillary-basaloid, warty, warty-basaloid, clear cell and lymphoepithelioma-like carcinomas are not recognized as distinctive variants of HPV-associated group anymore. Similarly, squamous cell carcinoma, usual type, pseudohyperplastic, pseudoglandular, verrucous carcinoma, carcinoma cunniculatum, papillary, adenosquamous, sarcomatoid and mixed carcinoma are no more not recognized as distinctive variants of HPV-independent carcinomas. Instead, these variants are now called subtypes. Some previously distinct subtypes now belong to the morphological spectrum of other subtypes. Basaloid-papillary subtype belongs to basaloid squamous cell carcinoma and carcinoma cunniculatum is currently recognized as morphological variation of verrucous carcinoma. Pseudohyperplastic and mixed subtypes were removed from the classification. Adenosquamous carcinoma is currently termed adenosquamous and mucoepidermoid carcinoma and represents distinct entity. Precursor lesions of squamous cell carcinoma underwent substantial modifications in the WHO classification 2016 as well, and remain unchanged in WHO classification 2022. Terminology for HPV - induced lesions have been unified to low grade squamous intraepithelial lesions (LSIL) and high grade squamous intraepithelial lesions (HSIL). This classification applies to the whole anogenital area, including penis, anus, perianal region, vulva, vagina and uterine cervix. LSIL is further divided to condyloma accuminatum and (penile) intraepithelial neoplasia grade 1 (PeIN1), HSIL is divided to PeIN2 and PeIN3. Penile HPV-independent precursor lesions are named differrentiated penile intraepitelial neoplasia (dPeIN) and are identical to analogous lesions on vulva.
- Klíčová slova
- Penis, WHO classification 2022, scrotum, tumors of the penis,
- MeSH
- infekce papilomavirem * komplikace patologie MeSH
- lidé MeSH
- nádory penisu * patologie MeSH
- Papillomaviridae MeSH
- penis metabolismus patologie MeSH
- skrotum metabolismus patologie MeSH
- spinocelulární karcinom * patologie MeSH
- Světová zdravotnická organizace MeSH
- verukózní karcinom * patologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Paraneoplastic pemphigus (PNP) in the oral cavity is a rare variant of blistering pemphigus disease closely associated with mostly malignant tumors. The diagnosis may even precede an underlying malignancy enabling early detection. Here, we describe a previously unreported case of PNP associated with HPV-related tonsillar squamous cell carcinoma. METHODS AND RESULTS: A 50-year-old woman was referred to a dentist because of painful oral lesions resembling aphthae major and minor. Later, blisters appeared and an incisional biopsy was performed. Histological examination revealed an unusual coexistence of subepithelial and intraepithelial blisters raising suspicion of paraneoplastic pemphigus. The patient underwent 18F-FDG PET/MRI, showing a metabolically active process in the left palatal tonsil. Diagnostic biopsy revealed HPV type 16 associated tonsillar squamous cell carcinoma. A left tonsillectomy with elective left-sided neck dissection was performed. The postoperative period was complicated by bilateral fluidothorax. Two weeks after radical tumor removal, the mucosal and skin lesions of PNP disappeared. The patient currently shows no evidence of recurrence either of malignancy or PNP eight months after the surgery. CONCLUSION: PNP is a rare autoimmune blistering disease characterized by polymorphous cutaneous and mucosal lesions associated with internal neoplasms including HPV associated squamous cell carcinoma of a tonsil. In order to identify an occult malignancy, a whole-body PET/CT or PET/MRI scan is recommended. Rarely, accurate patient management may depend on the dentist being familiar with this entity and on interdisciplinary cooperation involving dermatologist, radiologist, pathologist, and pneumologist. A strict patient follow-up is indicated.
- Klíčová slova
- 18F-FDG PET/MRI, oral mucosa lesions; paraneoplastic autoimmune multiorgan syndrome, paraneoplastic pemphigus, pulmonary complications, tonsillar carcinoma HPV associated,
- MeSH
- autoimunitní nemoci * komplikace MeSH
- infekce papilomavirem * komplikace diagnóza MeSH
- krční mandle patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- paraneoplastické syndromy * etiologie diagnóza patologie MeSH
- pemfigus * diagnóza etiologie MeSH
- PET/CT škodlivé účinky MeSH
- puchýř komplikace MeSH
- spinocelulární karcinom * komplikace diagnóza MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
OBJECTIVE: Case presentation, differential dia-gnostic, possible therapeutic procedure and a brief literature report. CASE REPORT: An 84-year-old woman was repeatedly examined for chronic extended dermatologic lesion on lower abdomen, external genitals, perianal region, groin and adjacent inner thighs. CONCLUSION: Neither colposcopy with dermatovenerologic consultation, nor histopathological examination led to a precise conclusion. Only a special dermatopathologic expertise showed a dia-gnosis of inverse psoriasis with suggested therapy.
- Klíčová slova
- Psoriasis, psoriasis, vulval lesion,
- MeSH
- lidé MeSH
- psoriáza * diagnóza farmakoterapie patologie MeSH
- senioři nad 80 let MeSH
- vulva patologie MeSH
- vulvitida * MeSH
- Check Tag
- lidé MeSH
- senioři nad 80 let MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
INTRODUCTION: In men with ≥pT1G2 cN0, penile cancer lymph node sampling is recommended with either (1) scintigraphically labelled Dynamic sentinel lymph node biopsy (DSLNB) or (2) modified inguinal lymph node dissection (MILND). Although DSLNB is a minimally invasive technique, the false negative rate can be about 10%, and a further operative procedure is required if positive. Open MILND is a diagnostic and therapeutic option but has a much higher morbidity. A potential compromise is the technique of LND-VEILND (video endoscopic inguinal LND) that can be combined with ICG florescence marking of sentinel lymph node (SLN). We present a pilot study of ICG-VEILND. The aim was to validate the applicability of a combination ICG marking of SLN in VEILND (to increase probability to excise SLN) and determine the optimal timing and dosage of ICG. MATERIALS AND METHODS: 15 patients with VEILND (24 groins) underwent ICG application with fluorescence near-infrared (NIR 803⟶830 nm) detection. ICG is applied subcutaneously adjacent to the penile cancer or residual stump of penis or suprapubic region (in a history of total penectomy: 5 cases). The dose of 1.25 mg (ICG) was applied in one case with invisible SLN, the dose of 2.5 mg in 1 mL in 8 cases, and 5 mg in the remaining 6 patients (10 groins). RESULTS: Failure of marking SLN with ICG occurred in 25.0% of cases (6/24): due to application of 1.25 mg ICG, extensive metastasis to SLN, in 4 cases, the cause was unknown (16.7%, 4/24). In the short follow-up period, no local recurrence was seen in the pN0 ICG group. CONCLUSION: Fluorescence infrared image with ICG dye increases the probability of removal of the SLN during VEILND. The dose of ICG is 2.5 (5) mg diluted in 1 ml and can be applied preoperatively even in the suprapubic region in men with a history of total penectomy, with an unexplainable failure of ICG marking in 16.7%.
- MeSH
- indokyanová zeleň MeSH
- lidé MeSH
- lymfadenektomie metody MeSH
- lymfatické uzliny patologie MeSH
- nádory penisu * diagnostické zobrazování patologie chirurgie MeSH
- pilotní projekty MeSH
- sentinelová uzlina * diagnostické zobrazování chirurgie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- indokyanová zeleň MeSH
Lymphangiosarcoma, or Stewart-Treves Syndrome (STS), is a very rare skin angiosarcoma with poor prognosis, which usually affects the upper limbs of patients who underwent breast cancer surgery, including axillary dissection followed by radiotherapy (RT). Cutaneous lymphangiosarcomas, which account for approximately 5% of all angiosarcomas, usually originate in the limb with chronic lymphedema. Lymphatic blockade is involved in the onset of STS. RT contributes indirectly to an increased risk of developing STS by causing axillary-node sclerosis and resulting in a lymphatic blockade and lymphedema. Chronic lymphedema causes local immunodeficiency, which indirectly leads to oncogenesis. Currently, axillary nodes are no longer routinely irradiated after axillary dissection, which is associated with a reduction in the incidence of chronic lymphedema from 40% to 4%. The use of sentinel lymph node biopsy technique is also widespread and the associated risk of lymphedema is further reduced. Thus, the incidence of STS decreased significantly with improved surgical and radiation techniques. The overall prognosis of STS patients is very poor. Only early radical surgical removal, including amputation or disarticulation of the affected limb, or wide excision at an early stage offers the greatest chance of long-term survival. Only a few case reports and series with a small number of patients with lymphangiosarcoma can be found in the literature. We present a case report of the first diagnosed STS at our department in an effort to highlight the need of the consideration of developing lymphangiosarcoma in patients with chronic lymphedema.
- Klíčová slova
- Angiosarcoma, Breast cancer, Lymphangiosarcoma, Radiotherapy, Stewart-Treves syndrome,
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Primary Extra-mammary Paget's disease (EMPD) is a very rare cutaneous adenocarcinoma affecting anogenital or axillary regions. It is characterized by a prolonged course with recurrences and eventually distant metastatic spread for which no specific therapy is known. METHODS: Eighteen EMPD (13 vulvar and five scrotal) and ten mammary Paget's disease (MPD) cases were comprehensively profiled for gene mutations, fusions and copy number alterations, and for therapy-relevant protein biomarkers). RESULTS: Mutations in TP53 and PIK3CA were the most frequent in both cohorts: 7/15 and 5/15 in EMPD; 1/6 and 4/7 in MPD HER2 gene amplification was detected in 4/18 EMPD (3 vulvar and 1 scrotal case) in contrast to MPD where it was detected in the majority (7/8) of cases. TOP2A gene amplification was seen in 2/12 EMPD and 1/6 MPD, respectively. Similarly, no difference in estrogen receptor expression was seen between the EMPD (4/15) and MPD (3/10). Androgen receptor was also expressed in the majority of both cohorts (12/16 EMPD) and (7/8 MPD).Here ARv7 splice variant was detected in 1/7 EMPD and 1/4 MPD cases, respectively. PD-L1 expression on immune cells was exclusively observed in three vulvar EMPD. In contrast to MPD, six EMPDs harbored a "high" tumor mutation burden (≥10 mutations/Mb). All tested cases from both cohorts were MSI stable. CONCLUSIONS: EMPD shares some targetable biomarkers with its mammary counterpart (steroid receptors, PIK3CA signaling pathways, TOP2A amplification). HER2 positivity is notably lower in EMPD while biomarkers to immune checkpoint inhibitors (high TMB and PD-L1) were observed in some EMPD. Given that no consistent molecular alteration characterizes EMPD, comprehensive theranostic profiling is required to identify individual patients with targetable molecular alterations.
- Klíčová slova
- extra-mammary Paget's disease, immune therapy, molecular profiling, targeted therapy,
- MeSH
- amplifikace genu MeSH
- cílená molekulární terapie MeSH
- dospělí MeSH
- extramamární Pagetova nemoc farmakoterapie genetika patologie MeSH
- individualizovaná medicína MeSH
- kůže patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mikrosatelitní nestabilita MeSH
- mutace MeSH
- nádorové biomarkery antagonisté a inhibitory genetika metabolismus MeSH
- nádory kůže farmakoterapie genetika patologie MeSH
- nádory prsu farmakoterapie genetika patologie MeSH
- Pagetova nemoc prsu farmakoterapie genetika patologie MeSH
- protokoly antitumorózní kombinované chemoterapie farmakologie terapeutické užití MeSH
- prsy patologie MeSH
- retrospektivní studie MeSH
- sekvenční analýza DNA MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- skrotum patologie MeSH
- variabilita počtu kopií segmentů DNA MeSH
- vulva patologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- srovnávací studie MeSH
- Názvy látek
- nádorové biomarkery MeSH
- MeSH
- dědičné nádorové syndromy patologie MeSH
- dítě MeSH
- dospělí MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádorové biomarkery analýza MeSH
- nádorové supresorové proteiny analýza MeSH
- nádory kůže chemie patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- thiolesterasa ubikvitinu analýza MeSH
- Check Tag
- dítě MeSH
- 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
- dopisy MeSH
- Názvy látek
- BAP1 protein, human MeSH Prohlížeč
- nádorové biomarkery MeSH
- nádorové supresorové proteiny MeSH
- thiolesterasa ubikvitinu MeSH
The normal histology of anogenital mammary-like glands (AGMLG) has been studied previously, but some aspects, including glandular depth, presence of columnar epithelium resembling columnar cell change/hyperplasia as defined in mammary pathology, and distribution of elastic fibers, have not been previously investigated. To address these issues, we studied 148 AGMLG identified in 133 paraffin blocks sampled from 64 vulvar wide excision or vulvectomy specimens (64 patients, various indications for surgery). The depth of AGMLG ranged from 0.64 to 3.9 mm. Epithelial columnar cell change was noted in 33.1% of all AGMLG, whereas columnar cell hyperplasia was detected in 10.1%. Occasionally, combinations of cuboidal epithelium and columnar cell change were seen within 1 histological section. Of 22 specimens stained for elastic fibers, in only 6 (27.3%) cases were elastic fibers found around glands. Periductal elastic fibers were demonstrated around 3 of the only 5 ducts, which were available for analysis in slides stained for elastic fibers. The depth of AGMLG should be taken into account when planning topical and surgical therapies for lesions derived or evolving from AGMLG. Alterations identical to columnar cell change may represent a normal variation of AGMLG.
To determine whether a subset of primary extramammary Paget disease (EMPD) may originate in anogenital mammary-like glands (AGMLG), the authors studied 181 specimens of EMPD, detailing alterations in AGMLG. The latter were identified in 33 specimens from 31 patients. All patients were women, ranging in age from 38 to 93 years (median, 65 y). In all cases, lesions involved the vulva and in 1 patient the perianal skin was affected. Histopathologically, AGMLG manifested changes identical to columnar cell change (CCC) (87.1%), usual ductal hyperplasia (22.6%), columnar cell hyperplasia (CCH) (9.7%), oxyphilic (apocrine) metaplasia (6.5%), and atypical duct hyperplasia (3.2%). Four cases (12.9%), in addition to intraepidermal carcinoma, harbored invasive carcinoma. In all 4 of these, AGMLG displayed a range of alterations including ductal carcinoma in situ, CCC, and CCH. Three further cases (9.7%) showed ductal carcinoma in situ without any definite invasive carcinoma. Colonization of AGMLG by neoplastic Paget cells was noted in 6 cases. As CCC and CCH may be encountered in normal AGMLG, these alterations are unlikely to play a significant role in the pathogenesis of the disease. However, by analogy with mammary Paget disease, rare cases of primary EMPD may originate in AGMLG with a subsequent upward migration of the neoplastic cells into the epidermis and possible later breach through the basal membrane. Usual ductal hyperplasia and atypical duct hyperplasia can then be regarded as earlier precursor lesions, linking both ends of the spectrum.
- MeSH
- anální kanál patologie MeSH
- dospělí MeSH
- extramamární Pagetova nemoc etiologie patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory anu etiologie patologie MeSH
- nádory vulvy etiologie patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- vulva patologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
