RESUMO
ABSTRACT: Information regarding the genetic alterations in extramammary Paget disease (EMPD) is scarce. This study investigated the significance of CDKN2A and MTAP alterations in EMPD progression using immunohistochemistry and panel DNA sequencing. In total, 24 invasive/metastatic EMPD cases were included in this study. The immunoexpression of p16 and MTAP in the primary in situ, primary invasive, and metastatic tumor components was evaluated. Panel DNA sequencing was performed for metastatic tumor components in 5 of the 24 cases. Immunoexpression of p16 in the in situ tumor component was at least partially preserved in all 19 tested cases (100%). By contrast, the invasive tumor component was diffusely or partially lost in 18 (81.8%) of 22 tested cases. Regarding the foci of lymph node metastasis, 13 (81.2%) of the 16 patients showed a significant loss of p16 expression. Loss of MTAP immunoexpression was observed less frequently compared with the loss of p16 expression. CDKN2A homozygous deletions were confirmed in all 5 tested cases by sequencing, whereas MTAP deletions were detected in only 2 cases. In conclusion, p16 expression loss and CDKN2A deletions can be frequently seen in invasive/metastatic cases of EMPD.
Assuntos
Inibidor p16 de Quinase Dependente de Ciclina , Progressão da Doença , Imuno-Histoquímica , Doença de Paget Extramamária , Neoplasias Cutâneas , Humanos , Doença de Paget Extramamária/genética , Doença de Paget Extramamária/patologia , Doença de Paget Extramamária/metabolismo , Masculino , Feminino , Idoso , Inibidor p16 de Quinase Dependente de Ciclina/genética , Pessoa de Meia-Idade , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Invasividade Neoplásica , Purina-Núcleosídeo Fosforilase/genética , Deleção de Genes , Metástase Linfática/genéticaRESUMO
BACKGROUND: The clinicopathologic and genetic features of cutaneous melanoma with a BRAF V600K mutation are not well-known. We aimed to evaluate these characteristics in comparison with those associated with BRAF V600E. METHODS: Real-time polymerase chain reaction (PCR) and/or the MassARRAY® system were used to detect BRAF V600K in 16 invasive melanomas and confirm BRAF V600E in another 60 cases. Immunohistochemistry and panel next-generation sequencing were used to evaluate protein expression and tumor mutation burden, respectively. RESULTS: The median age of melanoma patients harboring the BRAF V600K mutation (72.5 years) was higher than those with the BRAF V600E (58.5 years). The two groups also differed in sex (13/16 [81.3%] male in the V600K group vs. 23/60 [38.3%] in V600E) and in the frequency of scalp involvement (8/16 [50.0%] in V600K vs. 1/60 [1.6%] in V600E). The clinical appearance was similar to a superficial spreading melanoma. Histopathologically, non-nested lentiginous intraepidermal spread and subtle solar elastosis were observed. One patient (1/13, 7.7%) had a pre-existing intradermal nevus. Diffuse PRAME immunoexpression was seen in only one (14.3%) of seven tested cases. Loss of p16 expression was observed in all 12 cases (100%) analyzed. The tumor mutation burden was 8 and 6 mutations/Mb in the two tested cases. CONCLUSIONS: Melanoma carrying the BRAF V600K mutation showed the predominance on the scalp of elderly men, lentiginous intraepidermal growth, subtle solar elastosis, possible existence of intradermal nevus component, frequent loss of p16 immunoexpression, limited immunoreactivity for PRAME, and intermediate tumor mutation burden.
Assuntos
Melanoma , Nevo Intradérmico , Neoplasias Cutâneas , Humanos , Masculino , Idoso , Feminino , Melanoma/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Proteínas Proto-Oncogênicas B-raf/genética , Mutação , Análise Mutacional de DNA , Antígenos de Neoplasias , Melanoma Maligno CutâneoRESUMO
BACKGROUND: Cysts of the skin are observed frequently and their diagnoses are generally straightforward. However, atypical cystic lesions for which differentiation is indistinct have been noted. METHODS: We examined five cases of trichilemmal cyst with proteinaceous material (TCPM), which required differentiation from sweat duct/gland tumors. We investigated the histopathological findings of TCPMs and evaluated the immunohistochemical expression of cytokeratin (CK) 10, CK13, CK17, CK19, CD8, and CD117. Immunohistochemical analysis was performed on the 5 TCPMs, 10 trichilemmal cysts (TCs), 5 clear-cell hidradenomas, 5 poroid hidradenomas, and cutaneous normal adnexa. RESULTS: Apoptotic cells were present in the cyst wall with a small amount of keratin or calcification in the cavity of TCPMs. The TCPMs and TCs were negative for CK19 and CD117, on the other hand clear-cell hidradenoma and poroid hidradenoma were positive for CK19 and CD117. The restricted positivity for CK10 was detected in the suprabasal layers of the cyst walls of TCPMs and TCs. The immunostaining patterns of TCPMs and TCs were similar to those of normal follicular isthmus. CONCLUSIONS: The histopathological findings with characteristics of TCs and a panel of immunohistochemical antibodies including CD117, CK19, and CK10 contributed to a correct diagnosis of TCPM.
Assuntos
Acrospiroma , Adenoma de Glândula Sudorípara , Cisto Epidérmico , Neoplasias das Glândulas Sudoríparas , Adenoma de Glândula Sudorípara/patologia , Cisto Epidérmico/diagnóstico , Cisto Epidérmico/patologia , Humanos , Poroma , Neoplasias das Glândulas Sudoríparas/diagnóstico , Neoplasias das Glândulas Sudoríparas/patologiaRESUMO
AIMS: The aim of this study was to determine the clinicopathological and genetic characteristics of axillary signet-ring cell/histiocytoid carcinoma (SRCHC) and the relationship between axillary SRCHC, eyelid SRCHC, and conventional apocrine carcinoma (AC). METHODS AND RESULTS: Eleven cases of axillary SRCHC, four cases of eyelid SRCHC, eight cases of axillary AC and five cases of invasive lobular carcinoma (ILC) were retrieved. Additionally, 14 axillary and 43 eyelid SRCHC cases from the literature were reviewed. Male predominance was prominent for axillary SRCHC (24:1) and eyelid SRCHC (42:5). Axillary SRCHC formed a circumscribed plaque or nodule, unlike eyelid SRCHC. Lymph node metastasis was predominantly seen in axillary SRCHC cases (72%, 18/25), but not in eyelid SRCHC cases (19%, 9/47). Axillary SRCHC and eyelid SRCHC were histopathologically similar and showed rare tubular formations. Immunoexpression of cytokeratin 7, cytokeratin 19, mucin 1, mucin 5AC, BerEP4 and androgen receptor was seen in all tested cases of the four diseases. Oestrogen and progesterone receptors were negative in both types of SRCHC and AC, but were strongly positive in ILCs. Complete loss of E-cadherin expression was seen in approximately one-quarter of both types of SRCHC and in all ILCs. PIK3CA mutations were detected in all three sequenced cases (two axillary SRCHCs and one eyelid SRCHC). CONCLUSION: The histopathological, immunohistochemical and genetic findings suggest that both types of SRCHC are phenotypic variants of AC, although there are differences in sex, macroscopic findings and the frequency of lymph node metastasis among the three. In contrast, ILC differs from the other three tumour types.
Assuntos
Axila/patologia , Carcinoma de Células em Anel de Sinete/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Palpebrais/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
ABSTRACT: Lipomatous metaplasia has been rarely reported in both neoplastic and inflammatory dermatological disorders. Most neoplastic cases show the lipomatous change within the tumor silhouette, but band-like lipomatous metaplasia in the dermis under tumors has not been well-described. The aim of this study was to reveal the characteristics and relationship of intradermal band-like lipomatous metaplasia and coexisting skin tumors. A total of 20 cases with intradermal band-like lipomatous metaplasia were retrieved from 10,992 archive cases between April 1997 and March 2020 at Hyogo Cancer Center, and subjected to a detailed clinicopathologic analysis. Nine (45%) patients had superficial variant basal cell carcinoma as a coexisting neoplasm. Eight (40%) patients had squamous cell carcinoma, 5 of which were in situ. The remaining 3 (15%) cases were invasive extramammary Paget disease. All 20 cases showed at least one of 3 signs of tumor regression, namely, partial loss of overlying neoplasia, significant inflammatory infiltrate under the tumor, and fibrosis around the tumor. We concluded that intradermal band-like lipomatous metaplasia could be seen in association with the regressing process of cutaneous superficially-spreading neoplasms.
Assuntos
Adipócitos/patologia , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/patologia , Doença de Paget Extramamária/patologia , Neoplasias Cutâneas/patologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Metaplasia , Pessoa de Meia-Idade , Invasividade Neoplásica , Estudos RetrospectivosRESUMO
ABSTRACT: Adenoid cystic carcinoma (ACC) is an infiltrating carcinoma composed of 2 cell types, myoepithelial and ductoglandular epithelial cells. Although approximately 70% of ACC exhibit translocations of the MYB proto-oncogene or MYB proto-oncogene like 1 (MYBL1), expression of MYB is known to be limited in myoepithelial cells. We investigated the histopathologic and genetic characteristics of ACC in 6 primary cutaneous cases. Histopathologically, 3 cases (50%) exhibited well-demarcated nodules composed of large nests, easily misdiagnosed as polymorphous sweat gland carcinoma. Two cases (33%) harbored large cystic structures resembling spiradenoma, hidradenoma, and digital papillary adenocarcinoma. A papillary pattern was focally observed in 2 cases (33%). A melting phenomenon within the myxoid stroma was seen in one case (17%). Fluorescence in situ hybridization (FISH) revealed MYB break-apart in 3 cases (50%). A combined FISH and immunohistochemical method revealed MYB break-apart signals in both p63-positive myoepithelial and p63-negative ductoglandular epithelial cells, suggesting that both cell types constitute elements of the tumor in ACC. Moreover, we established a well-circumscribed variant of ACC and proposed 3 new patterns of cystic, papillary, and melting in addition to the 3 patterns of cribriform, tubular, and solid growth.
Assuntos
Biomarcadores Tumorais/genética , Carcinoma Adenoide Cístico/genética , Carcinoma Adenoide Cístico/metabolismo , Proteínas Proto-Oncogênicas c-myb/genética , Neoplasias das Glândulas Sudoríparas/genética , Neoplasias das Glândulas Sudoríparas/patologia , Translocação Genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Carcinoma Adenoide Cístico/química , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Japão , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Proto-Oncogene Mas , Neoplasias das Glândulas Sudoríparas/química , Fatores de Transcrição/análise , Proteínas Supressoras de Tumor/análiseAssuntos
Melanoma , Nevo de Células Epitelioides e Fusiformes , Neoplasias Cutâneas , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Melanoma/genética , Melanoma/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Fusão Gênica , Proteínas do Citoesqueleto/genética , Proteínas Adaptadoras de Transdução de Sinal/genéticaRESUMO
BACKGROUND: Distinguishing porocarcinoma from squamous cell carcinoma (SCC) is clinically significant but can pose a diagnostic dilemma. The present study sought to confirm the diagnostic utility of CD117 immunohistochemistry in distinguishing porocarcinoma from SCC and to examine histologic, carcinoembryonic antigen (CEA) immunohistochemical and CA19-9 immunohistochemical differences between these tumors. METHODS: Immunostaining with anti-CD117, anti-CEA and anti-CA19-9 antibodies was performed for 22 porocarcinomas and 31 SCCs. The extent of CD117, CEA and CA19-9 staining was classified as negative (<1%), rarely positive (1-4%), focally positive (5-29%) or diffusely positive (30-100%). CD117 staining intensity was semi-quantitatively graded as weak, moderate or strong. RESULTS: All (100%) porocarcinomas were positive for CD117, with mainly focal (8/22) or diffuse (11/22) and moderate (9/22) to strong (8/22) staining. In contrast, only 6 of 31 SCCs (19.4%) expressed CD117 focally, and this expression was limited to the basal layer of the tumor in four cases. CEA immunostaining highlighted the lumina of all 22 porocarcinomas; however, CEA expression was not significantly different between porocarcinomas and SCCs (100 vs. 71.0%, respectively). CA19-9 was not expressed in the lumina of 5 of 22 porocarcinomas. CONCLUSIONS: Along with CEA, CD117 immunohistochemistry could be helpful in distinguishing porocarcinomas from SCCs.
Assuntos
Biomarcadores Tumorais/metabolismo , Carcinoma de Células Escamosas , Porocarcinoma Écrino , Proteínas Proto-Oncogênicas c-kit/metabolismo , Neoplasias das Glândulas Sudoríparas , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Porocarcinoma Écrino/metabolismo , Porocarcinoma Écrino/patologia , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias das Glândulas Sudoríparas/metabolismo , Neoplasias das Glândulas Sudoríparas/patologiaAssuntos
Imunossupressores/efeitos adversos , Transtornos Linfoproliferativos/induzido quimicamente , Transtornos Linfoproliferativos/virologia , Metotrexato/efeitos adversos , Úlcera Cutânea/induzido quimicamente , Úlcera Cutânea/virologia , Idoso , Artrite Reumatoide/tratamento farmacológico , Diagnóstico Diferencial , Toxidermias/patologia , Toxidermias/virologia , Infecções por Vírus Epstein-Barr/complicações , Feminino , HumanosRESUMO
BACKGROUND: Although the precise etiology of keratoacanthoma (KA) is unknown, KA is generally assumed to differentiate toward hair follicles based on previous studies of experimental carcinogenesis. METHODS: We performed a comprehensive immunohistochemical study of various follicular markers in all stages of KA. A total of 67 tumors, including 16 early or proliferative stage lesions, 43 well-developed stage lesions, five regressing stage lesions and three regressed stage lesions, were subjected to the analysis. RESULTS: CK15 (clone C8/144B), CK19 and CD34 were not expressed at any stage. CK1, CK10, CK16, CK17, CK15 (clone LHK15) and calretinin showed dynamic changes in their expression in KA depending on the stage. CONCLUSIONS: KA is a follicular neoplasm with infundibular/isthmic (upper segmental region of hair follicles) differentiation. It is considered that early or proliferative stage tumors show keratin-filled invaginations with infundibular differentiation and gradual isthmic differentiation. Well-developed examples of KA generally show isthmic differentiation in the whole lesions. The regressed stage KAs lose the features of this type of follicular differentiation and show epidermal characteristics. No expression of CK15 (clone C8/144B) was observed in KAs, although this finding is insufficient to completely rule out the correlation between the regression of KA and the hair follicle cycle.
Assuntos
Biomarcadores Tumorais/análise , Folículo Piloso/patologia , Ceratoacantoma/patologia , Neoplasias Cutâneas/patologia , Diferenciação Celular , Folículo Piloso/metabolismo , Humanos , Imuno-Histoquímica , Queratina-15/biossíntese , Ceratoacantoma/metabolismo , Estadiamento de Neoplasias , Estudos Retrospectivos , Neoplasias Cutâneas/metabolismoRESUMO
We present a rare case of clonal seborrheic keratosis (SK) with focal Bowen disease (BD) (squamous cell carcinoma in situ) accompanied by sebaceous differentiation. An 89-year-old woman presented with a pale reddish-brown plaque on the left buttock. Histopathological examination of the excisional specimen revealed hyperkeratosis, acanthosis, and intraepidermal epithelioma. In some areas of the tumor, we observed proliferation of basaloid keratinocytes within the intraepidermal nests and pseudohorn cysts. This area was diagnosed as clonal SK. However, in other areas, the tumor cells within the intraepidermal nests showed nuclear pleomorphism, abnormal mitoses, dyskeratotic cells, and clumping cells, consistent with BD with a nested/clonal pattern (clonal BD). The SK and BD areas were contiguous with the transitional zone. Some nests within the BD area contained vacuolated cells with bubbly cytoplasm and scalloped nuclei, suggestive of sebaceous differentiation. Therefore, we made the diagnosis of clonal BD with sebaceous differentiation arising from clonal SK. All areas contained intraepidermal nests, which revealed that the lesions were not the result of accidental collision, but that the neoplastic cells in the intraepidermal nests of the SK transformed into BD and underwent sebaceous differentiation.
RESUMO
Sweat-gland carcinoma with neuroendocrine differentiation (SCAND) was recently proposed as a new cutaneous adnexal neoplasm with neuroendocrine differentiation; however, its genetics are not well known. Herein, we performed clinicopathologic and genetic analyses of 13 SCAND cases and 5 control cases of endocrine mucin-producing sweat gland carcinoma (EMPSGC). The SCAND group included 11 males and 2 females with a median age of 68 years (range, 50 to 80 y). All SCAND lesions occurred in the ventral trunk or genital area. Of the 13 SCAND cases, 9 and 5 exhibited lymph node and distant metastases, respectively. Three (23.1%) patients with SCAND died of the disease. In contrast, neither metastasis nor mortality was confirmed in the EMPSGC cases. Immunoexpression of the androgen receptor, c-Myb, and MUC2 was limited in SCAND, whereas EMPSGC frequently expressed these immunomarkers. GATA3 P409Afs*99 extension mutations were detected in 7 (53.8%) of the 13 SCAND cases, using Sanger or panel sequencing. All 7 SCAND cases with GATA3 mutations were located in the genital, inguinal, or lower abdominal regions, whereas 5 of the other 6 SCAND cases were located in the anterior upper to mid-trunk. No GATA3 mutations were detected in the EMPSGC cases (0/5, 0%). These clinicopathologic and genetic findings support SCAND as a tumor entity distinguishable from EMPSGC. In addition, the characteristic frameshift extension mutations in GATA3 contribute to the establishment of the tumor-type concept of SCAND.
Assuntos
Adenocarcinoma Mucinoso , Neoplasias Císticas, Mucinosas e Serosas , Tumores Neuroendócrinos , Neoplasias das Glândulas Sudoríparas , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adenocarcinoma Mucinoso/patologia , Fator de Transcrição GATA3/genética , Mutação , Neoplasias das Glândulas Sudoríparas/genética , Neoplasias das Glândulas Sudoríparas/patologiaRESUMO
Hidrocystoma is thought to be a benign retention cyst of sweat ductal units. The lesion is usually located in the periorbital skin; however, lesions with similar histopathological features are rarely observed in extra-facial sites. Herein, we present four cases of hidrocystoma-like tumours in extra-facial skin sites that harboured a RET or ALK rearrangement. This study features a 67-year-old female with a 10 mm-sized digital tumour (Case 1), a 62-year-old male with an 8 mm-sized clavicular tumour (Case 2), a 61-year-old male with a 19 mm-sized digital tumour (Case 3), and an 11-year-old female with a 10 mm-size lower leg tumour (Case 4) as well as five control cases (Cases 5-9) of classical periorbital hidrocystoma. In Cases 1-4, multicystic tumours comprising a two-cell layer of inner cuboidal ductoglandular (p63- and SOX10+/-) and outer flat myoepithelial (p63+ and SOX10+) cells were observed. The inner ductoglandular tumour cells exhibited micropapillary projections and Roman bridging structures. No apparent atypical cells were observed. NCOA4::RET in Cases 1 and 3, CCDC6::RET in Case 2, and SLC12A2::ALK in Case 4 were revealed by next-generation sequencing or Sanger sequencing. In contrast, control cases of classical hidrocystoma (Cases 5-9) did not show intracystic proliferation, abundant cytoplasm, ALK immunoreactivity, or NCOA4::RET detection in the tumour cells. RET/ALK-rearranged hidrocystoma-like tumours are tumour entities that can be distinguished from classical hidrocystoma. This RET/ALK-rearranged neoplasm is benign and is frequently observed in the digits. Future studies will establish the concept, detailed clinicopathological characteristics, and genetic variations of hidrocystoma-like tumours.
Assuntos
Carcinoma Basocelular/patologia , Epiderme/patologia , Germinoma/patologia , Neoplasias Cutâneas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha , Carcinoma Basocelular/cirurgia , Estudos de Coortes , Diagnóstico Diferencial , Feminino , Germinoma/cirurgia , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Neoplasias Cutâneas/cirurgiaRESUMO
Radiation dermatitis, limited to the irradiated site, is the most common cutaneous adverse reaction due to radiotherapy. There are scattered reports of erythema multiforme-like rash, Stevens-Johnson syndrome, and toxic epidermal necrolysis associated with radiotherapy. Some of these reports include cases without remarkable drug history, which suggests rashes induced by radiotherapy. The lack of a large cohort study, however, makes it difficult to ascertain the time course, severity, and outcome of the cases. We aimed to evaluate the potential association between radiotherapy and erythema multiforme-like rash in a larger sample of patients. We examined the records of patients at our institute who received radiotherapy and developed a rash from 2010 to 2021. We present 30 patients with erythema multiforme-like rash, which arose during or after radiotherapy. We describe the background, details of radiotherapy, and clinical course of the patients including the cutaneous and extracutaneous symptoms. Radiotherapy was the most likely cause of rash, and in most cases, the rash was relieved by conservative management and radiation could be continued. When erythema multiforme-like rash arises in patients under cancer treatment, radiotherapy should be considered a potential trigger.
Assuntos
Eritema Multiforme , Exantema , Neoplasias , Síndrome de Stevens-Johnson , Humanos , Estudos de Coortes , Neoplasias/radioterapia , Eritema Multiforme/diagnóstico , Eritema Multiforme/etiologia , Exantema/diagnóstico , Exantema/etiologia , Tratamento Conservador , Síndrome de Stevens-Johnson/etiologiaRESUMO
In recent years, the development of combination therapies with immune checkpoint inhibitors (ICIs) and cytotoxic anticancer drugs has radically changed the management of diverse malignancies and significantly improved patient outcomes. Several clinical trials have shown that skin rash caused by combination therapy with ICIs and cytotoxic drugs may be more frequent and severe than that developing after administration of ICIs alone or cytotoxic drug monotherapy. However, most reports provide little information on severity, treatment, post-diagnosis course, and recurrence of rashes on drug rechallenges. We aimed to describe the experience of skin rashes developing within 2 weeks from the first administration of combination therapy with ICIs and cytotoxic drugs in 11 patients visiting our dermatology department. This study included seven men and four women, and the patients' median age was 52 years. The primary disease was non-small-cell lung cancer in eight patients, cervical cancer in two patients, and esophageal cancer in one patient. Nine patients had a maculopapular rash and two patients developed erythema multiforme-like eruptions. The skin rash was often accompanied by extracutaneous symptoms, such as fever (n = 9), mucositis (n = 4), and liver dysfunction (n = 2). In all cases, the symptoms improved with topical steroid therapy alone, with no patients exhibiting severe symptoms requiring systemic steroids or immunosuppressive agents. In addition, when the causative drugs were re-administered after recovery from the rash, only two patients relapsed with accompanying systemic symptoms, and all patients except one were able to continue treatment using the same drug regimen. Although it was suggested that the rash caused by the combination therapy of ICIs and cytotoxic drugs may be more prominent than that caused by each agent alone, comprehensive judgment, including histopathological examination, may indicate the feasibility of continuing the treatment regimen for cancer.
Assuntos
Antineoplásicos , Carcinoma Pulmonar de Células não Pequenas , Exantema , Neoplasias Pulmonares , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Estudos Retrospectivos , Neoplasias Pulmonares/tratamento farmacológico , Exantema/induzido quimicamente , Exantema/diagnóstico , Exantema/tratamento farmacológico , Antineoplásicos/efeitos adversos , Imunoterapia/efeitos adversosRESUMO
Proximal-type epithelioid sarcoma is an aggressive malignant soft-tissue neoplasm, a "proximal" variant of epithelioid sarcoma, resistant to multimodal therapy and involved in early tumor-related death. Pertinent treatments are, therefore, continually being explored. A 24-year-old woman with nonmetastatic proximal-type epithelioid sarcoma, originating subcutaneously on the right side of the vulva, underwent surgical resection; the lesion recurred, however, leading to death 3 months after the second surgery. Here described is a case of proximal-type epithelioid sarcoma expressing L-type amino acid transporter 1 (LAT1) that transports essential amino acids and p-borono-L-phenylalanine (BPA)-the chemical compound used in boron neutron capture therapy (BNCT)-and is highly expressed in many malignant tumors. Recently, LAT1 has drawn attention, and relevant treatments have been studied-LAT1 inhibitor and BNCT. LAT1 expression in proximal-type epithelioid sarcoma may lead to cogent treatments for the disease.