RESUMO
INTRODUCTION: Alveolar soft-part sarcoma (ASPS) is a rare malignant sarcoma with only a few cases reported in the sinus and head and neck region. It shows strong female predominance. Hormone-dependent recurrence was never reported. CASE REPORT: A 35 year-old woman presented nasal cavity ASPS during her first pregnancy, middle-ear ASPS during the second, and a third ASPS in the sinus outside of any peripartum period, with unfavorable progression and metastasis, terminating in death. DISCUSSION: Pathology analysis of the tumors showed positive immunolabeling for progesterone receptors in the two peripartum episodes. This was thus the first report of peripartum recurrence of ASPS with strong progesterone sensitivity, reinforcing the suspected biological link between ASPS and progesterone. This case report may be a preliminary finding suggesting progesterone blockers as a novel treatment for recurrent ASPS.
Assuntos
Sarcoma Alveolar de Partes Moles , Humanos , Feminino , Adulto , Masculino , Sarcoma Alveolar de Partes Moles/patologia , Sarcoma Alveolar de Partes Moles/terapia , Período Periparto , Progesterona , Cabeça , Pescoço/patologiaRESUMO
BACKGROUND: DNA mismatch repair system deficiency (dMMR) is found in 15% of colorectal cancers (CRCs). Two methods are used to determine dMMR, immunohistochemistry (IHC) of MMR proteins and molecular testing of microsatellite instability (MSI). Only studies with a low number of patients have reported rates of discordance between these two methods, ranging from 1% to 10%. MATERIALS AND METHODS: Overall, 3228 consecutive patients with CRCs from two centers were included. Molecular testing was carried out using the Pentaplex panel and IHC evaluated four (MLH1, MSH2, MSH6, and PMS2; cohort 1; n = 1085) or two MMR proteins (MLH1 and MSH2; cohort 2; n = 2143). The primary endpoint was the rate of discordance between MSI and MMR IHC tests. RESULTS: Fifty-one discordant cases (1.6%) were initially observed. Twenty-nine out of 51 discordant cases were related to IHC misclassifications. In cohort 1, after re-reading IHC and/or carrying out new IHC, 16 discordant cases were reclassified as nondiscordant. In cohort 2, after the addition of MSH6/PMS2 IHC and re-examination, 13 were reclassified as nondiscordant. In addition, 10 misclassifications of molecular tests were identified. Finally, only 12 discordant cases (0.4%) remained: 5 were proficient MMR/MSI and 7 were dMMR/microsatellite stable. CONCLUSIONS: Our study confirmed the high degree of concordance between MSI and MMR IHC tests. Discordant cases must be reviewed, and if needed, tests must be repeated and analyzed by an expert team.
Assuntos
Neoplasias Colorretais , Instabilidade de Microssatélites , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , Reparo de Erro de Pareamento de DNA/genética , Humanos , Imunoquímica , Técnicas de Diagnóstico MolecularRESUMO
INTRODUCTION: BRAF and MEK inhibitors have been approved for use in metastatic melanoma therapies. All of them are administered as oral capsules or pills. We report two cases treated applying an alternative method of vemurafenib or debrafenib-trametinib administration in patients unable to swallow. CASE REPORT: The first case involved a 38-year-old man who was referred to a dermatologist for dysphagia and anorexia. After a computerized tomography (CT) scan it was concluded that the dysphagia was due to compression by mediastinal metastasis in a context of metastatic BRAF mutant melanoma. The second case involved a 35-year-old man who was diagnosed in March 2017 with melanoma of the back of the hand. Several months later a positron emission tomography (PET)/CT scan was performed. It revealed multiple disseminated metastasis.Management & Outcome: The first patient presented total dysphagia and was unable to swallow pills. It was decided to dissolve vemurafenib in order to facilitate administration. Dysphagia was improved 48 hours later, and oral feeding was reintroduced. Due to severe tablet phobia, the second patient was unable to swallow pills. Dabrafenib capsules were emptied and trametinib pills were grinded. One month later, we noted improved health associated with reduction of the metastases. DISCUSSION: Our study highlights the possibility of crushing or dissolving BRAF and MEK inhibitors in metastatic melanoma patients for whom it is impossible to swallow pills, eliciting a response and achieving significant if temporary clinical benefit.
Assuntos
Antineoplásicos/administração & dosagem , Transtornos de Deglutição/tratamento farmacológico , Melanoma/tratamento farmacológico , Inibidores de Proteínas Quinases/administração & dosagem , Proteínas Proto-Oncogênicas B-raf/antagonistas & inibidores , Neoplasias Cutâneas/tratamento farmacológico , Adulto , Antineoplásicos/metabolismo , Transtornos de Deglutição/diagnóstico por imagem , Humanos , Imidazóis/administração & dosagem , Imidazóis/metabolismo , Masculino , Melanoma/diagnóstico por imagem , Oximas/administração & dosagem , Oximas/metabolismo , Inibidores de Proteínas Quinases/metabolismo , Proteínas Proto-Oncogênicas B-raf/metabolismo , Piridonas/administração & dosagem , Piridonas/metabolismo , Pirimidinonas/administração & dosagem , Pirimidinonas/metabolismo , Neoplasias Cutâneas/diagnóstico por imagem , Vemurafenib/administração & dosagem , Vemurafenib/metabolismoAssuntos
Antineoplásicos/efeitos adversos , Azacitidina/efeitos adversos , Bortezomib/efeitos adversos , Injeções Subcutâneas/efeitos adversos , Mieloma Múltiplo/tratamento farmacológico , Pele/efeitos dos fármacos , Antineoplásicos/administração & dosagem , Azacitidina/administração & dosagem , Bortezomib/administração & dosagem , Humanos , Masculino , Pele/patologiaRESUMO
BACKGROUND: Visceral leishmaniasis is not normally expressed in skin. Herein, we describe the case of an HIV-positive patient who developed two unusual skin manifestations during an episode of visceral leishmaniasis. PATIENTS AND METHODS: A 48-year-old female patient consulted initially for infiltrated purpura of all four limbs. Skin biopsy revealed leukocytoclastic vasculitis with Leishman-Donovan bodies. Laboratory tests showed medullary, splenic, gastric and colic involvement, suggesting systemic disease, and enabling visceral leishmaniasis to be diagnosed. Two years later, despite prolonged treatment, the patient presented maculopapular exanthema, and histology revealed persistent Leishman-Donovan bodies. DISCUSSION: We report herein an association of two rare skin manifestations in an HIV-positive patient with visceral leishmaniasis: infiltrated purpura and maculopapular exanthema. However, the underlying mechanisms remain hypothetical. The initial leukocytoclastic exanthema could be secondary to either polyclonal hypergammaglobulinaemia or to IgA deposits, or possibly to mechanical impairment of blood vessels by the actual parasite. The maculopapular exanthema occurring later raised the possibility of post-Kala-Azar leishmaniasis due to blood-borne dissemination in an anergic subject or perhaps even immune reconstitution inflammatory syndrome.
Assuntos
Exantema/etiologia , Infecções por HIV/complicações , Leishmaniose Visceral/diagnóstico , Púrpura/etiologia , Biópsia , Feminino , Humanos , Leishmaniose Visceral/complicações , Pessoa de Meia-Idade , Pele/patologiaRESUMO
INTRODUCTION: Mucinous nevus is a rare disease characterized by mucin deposits in the dermis, with only 23 cases reported to date. It belongs to the connective tissue nevus family and is characterized by dermal mucin deposits. Two histological subtypes have been described: pure mucinous dermal nevus (connective tissue nevus of the proteoglycan [CTNP]) and combined mucinous nevus (combined CTNP) associating epidermal nevus with dermal mucin deposits. Lesions generally appear in childhood or early adulthood. We report herein the case of a 59-year-old man with a symptomatic lesion. OBSERVATION: A 59-year-old man consulted for unilateral lesions occurring linearly along the Blaschko line on the right lower limb, composed of brown verrucous papules, which started at the age of 50. The patient complained of itching caused by friction from clothes. Histological examination of a papule highlighted an acanthotic epidermis, with elongation of rete ridges and mucin deposits in the dermis showing uptake of alcian blue stain. The clinicopathological analysis enabled diagnosis of combined CTNP. We treated this nevus by surgical dermabrasion and observed a slight and cosmetically acceptable scar. DISCUSSION: To our knowledge, our patient is the oldest reported to date and the only one to have complained of symptoms. Our review of the literature highlights the importance of skin biopsy to guide aesthetic or symptomatic treatment. CO2 laser and dermabrasion are recommended for combined CTNP as they treat the epidermal component with low risk of secondary scarring. However, these techniques should be avoided in pure dermal CTNP, where surgical excision alone is acceptable in order to achieve optimal cosmetic results.
Assuntos
Mucinas/metabolismo , Nevo/patologia , Neoplasias Cutâneas/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Nevo/metabolismo , Neoplasias Cutâneas/metabolismoRESUMO
BACKGROUND: Syringomas are benign tumours of the sweat glands, the most familiar clinical presentation of which is the presence of multiple lesions on the eyelids. The aim of our study was to determine the clinical and histological characteristics of a large series of patients and to examine anatomoclinical correlations. PATIENTS AND METHODS: This was a retrospective study conducted in all of the cases of syringoma analysed at the cutaneous histopathology laboratory in Strasbourg between 1970 and 2008. The clinical elements, patient history and diagnostic data were collated. All slides were re-read in order to determine the microscopic characteristics of the lesions. RESULTS: Two hundred and forty-four lesions were included. The sex ratio was 0.27 and the mean age was 42 years (8 to 85 years). Multiple syringomas were noted in 76% of cases, of which 29.2% were eruptive, and one case occurred in a setting of metastatic melanoma. The sites of predilection were the face (56.7%, of which 36.3% on the eyelids), the chest (18.1%) and the neck (17.5%) for the multiple forms. The lesions were in the form of papules (67%), either brown (34.2%) or flesh-coloured (19.8%). Pruritus was reported in 14 cases, including 4 at vulvar sites (out of a total of 8). A diagnosis of syringoma was made by the clinician in only 30.2% of the multiple forms, with mastocytosis being proposed in 7.1% of cases. The clear-cell forms (18 cases) presented no special clinical features. CONCLUSION: Syringomas are frequently multiple and are seen mainly in women. They are found predominantly on the face and trunk, and lesions are generally brown and pruritic, a little-known feature that accounts for the degree of diagnostic confusion with mastocytosis. The vulvar forms, which are often pruritic, are poorly known. The eruptive forms may include a hormonal component.
Assuntos
Neoplasias das Glândulas Sudoríparas/patologia , Siringoma/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prurido/etiologia , Estudos Retrospectivos , Fatores Sexuais , Adulto JovemRESUMO
BACKGROUND: Microcystic adnexal carcinoma (MAC), syringomatous carcinoma (SC) and "Squamoid eccrine ductal carcinoma" (SEDC) are rare sclerosing adnexal tumours. OBJECTIVE: To understand the histogenesis of these tumours and possible clinical implications. METHODS: We conducted a retrospective study of 30 cases, 18 MAC, 5 SC and 7 SEDC reviewed and classified by a panel of dermatopathology experts, with immunohistochemical analysis of keratins, including K77, a new keratin specific of eccrine ducts, and PHLDA1 expressed in adnexal structures. RESULTS: There was a strong female predominance, with only five cases occurring in men. Patients with MAC and SC were younger (mean age 56 and 47 years) than those with SEDC (mean age 81 years). The most common localization was the cheek in SC and SEDC and the periocular area in MAC. Two cases of SEDC were found in organ transplant patients. No recurrence or metastases were observed after complete surgery of MAC, or SC (mean follow-up 7.2 years and 4.7 years), whereas one case of SEDC recurred and another could not be fully excised. MAC and SC had similar histological features, except for cysts. In MAC, calcifications, granulomas, connection to follicles, keratin expression pattern, PHLDA1 positivity and K77 negativity indicated a follicular histogenesis, whereas in SC, K77 positivity and keratin expression pattern were consistent with a differentiation towards eccrine apparatus. SEDC was composed of strands centred by ducts and nests with squamous differentiation and displayed K77 ductal positivity in all cases, a finding consistent with an eccrine origin. CONCLUSION: Our study demonstrated that MAC and SC have similar clinical characteristics, although histogenesis differs and show arguments for the individualization of SEDC.
Assuntos
Carcinoma/química , Carcinoma/patologia , Neoplasias Faciais/química , Neoplasias Faciais/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias das Glândulas Sudoríparas/química , Neoplasias das Glândulas Sudoríparas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma/cirurgia , Neoplasias Faciais/cirurgia , Feminino , Humanos , Queratinas/análise , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias das Glândulas Sudoríparas/cirurgia , Fatores de Transcrição/análise , Adulto JovemRESUMO
The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in the RECQL4 gene. This gene is known to be causative of a spectrum including Baller-Gerold syndrome, RAPADILINO syndrome and RTS. New and rare features such as oral leukoplakia and very prominent hyperkeratotic verrucous papules on both soles are shown. This patient has to date no cancer history despite bearing a truncating mutation at the age of 21 years, which is also unusual.
Assuntos
Anormalidades Múltiplas/genética , Alopecia/genética , Canal Anal/anormalidades , Anodontia/genética , Nanismo/genética , Comunicação Interatrial/genética , Deformidades Congênitas dos Membros/genética , Patela/anormalidades , Transtornos da Pigmentação/genética , Rádio (Anatomia)/anormalidades , RecQ Helicases/genética , Síndrome de Rothmund-Thomson/genética , Polegar/anormalidades , Adulto , Criança , Humanos , Recém-Nascido , Ceratose/genética , Masculino , Mutação , Linhagem , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND: To analyze the clinical and histological features of permanent alopecia following a sequential fluorouracil/epirubicin/cyclophosphamide (FEC) and docetaxel regimen for adjuvant breast cancer treatment. PATIENTS AND METHODS: Women treated for breast cancer by a sequential adjuvant FEC and docetaxel regimen who developed permanent alopecia diagnosed between 2007 and 2011 were identified from the Department of Dermatology (Saint-Eloi Hospital, Montpellier, France) and the Department of Medical Oncology (CRLC Val d'Aurelle, Montpellier, France). Data were collected regarding demographics, type of cancer, delay of onset after chemotherapy, Dermatology Life Quality Index (DLQI), clinical description of the lesions, scalp biopsies, laboratory explorations investigating steroid hormonal, iron, zinc and thyroid status, therapy and outcome. RESULTS: Twenty white Caucasian females were included. Hair loss presented with a moderate or intense androgenetic-like pattern of scalp alopecia. Biopsy specimen examinations were normal or displayed the androgenetic-like pattern. Laboratory explorations ruled out iron or zinc deficiency and thyroid disorders and confirmed hormonal menopause without hyperandrogenism. The overall mean DLQI score reflected the distressing psychological consequences in the patients' lives. No spontaneous regrowth of the scalp hair was noted. Treatment including vitamins, minoxidil, psoralen and ultraviolet A therapy and spironolactone proved to be ineffective. CONCLUSION: Permanent and severe alopecia is a newly reported complication of the FEC 100-docetaxel breast cancer regimen.
Assuntos
Alopecia/induzido quimicamente , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Neoplasias da Mama/tratamento farmacológico , Taxoides/efeitos adversos , Adulto , Idoso , Alopecia/tratamento farmacológico , Alopecia/terapia , Antineoplásicos/efeitos adversos , Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimioterapia Adjuvante/efeitos adversos , Ciclofosfamida/efeitos adversos , Ciclofosfamida/uso terapêutico , Docetaxel , Epirubicina/efeitos adversos , Epirubicina/uso terapêutico , Feminino , Ficusina/uso terapêutico , Fluoruracila/efeitos adversos , Fluoruracila/uso terapêutico , Humanos , Pessoa de Meia-Idade , Minoxidil/uso terapêutico , Estudos Prospectivos , Espironolactona/uso terapêutico , Taxoides/uso terapêutico , Terapia Ultravioleta , Vitaminas/uso terapêuticoRESUMO
In vascular medicine, venous insufficiency, ocre dermatitis, stasis dermatitis, or lipodermatosclerosis (level C4 in CEAP) may lead to skin lesions involving the lower limbs. Generally, symptoms resolve with etiologic treatment using medical compression, varicosis treatment, or dermocorticoids. However, some skin lesions progress, suggesting another diagnosis, including a specific dermatosis. The diagnosis is based on clinical, biological, radiological and histological criteria. Referral to a dermatologist may be necessary to determine the appropriate etiological treatment.