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1.
Medicina (Kaunas) ; 59(5)2023 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-37241226

RESUMO

The occurrence of more than one primary malignant tumor in a single patient is rare. Multiple primary malignancies can pose difficulties in differential diagnosis between primary tumors and metastasis. Here, we present a case report with multiple primary malignancies. The patient is a 45-year-old female who was diagnosed with cervical mixed squamous neuroendocrine adenocarcinoma, metastasized carcinosarcoma and extramammary vulvar Paget's disease. The patient was first diagnosed with a microinvasive squamous cervical carcinoma in situ. After a few months, the amputation of a small residual tumor and histological evaluation revealed an IA1-stage poorly differentiated (G3) mixed squamous and neuroendocrine cervical adenocarcinoma. After two years, the disease had progressed and biopsies from altered sites were taken. Histological diagnosis from an ulcerated vulvar region revealed extramammary vulvar Paget's disease. A biopsy from vagina polyp revealed an earlier diagnosed mixed squamous and neuroendocrine cervical adenocarcinoma. However, histological diagnosis from an inguinal lymph node biopsy was unexpected and revealed carcinosarcoma. It indicated either the development of another primary malignancy, or an unusual spread of metastasis. Clinical presentation as well as diagnostic and treatment challenges are discussed in this case report. This case report shows that multiple primary malignancy cases are difficult to manage both for clinicians and the patient because the therapeutic options can become limited. This complex case was managed by a multidisciplinary team.


Assuntos
Adenocarcinoma , Neoplasias da Mama , Carcinoma de Células Escamosas , Neoplasias Primárias Múltiplas , Doença de Paget Extramamária , Neoplasias do Colo do Útero , Neoplasias Vulvares , Feminino , Humanos , Pessoa de Meia-Idade , Colo do Útero/patologia , Doença de Paget Extramamária/diagnóstico , Doença de Paget Extramamária/patologia , Adenocarcinoma/diagnóstico , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/patologia , Neoplasias da Mama/patologia , Neoplasias do Colo do Útero/diagnóstico , Neoplasias Primárias Múltiplas/diagnóstico , Carcinoma de Células Escamosas/diagnóstico
2.
Diagnostics (Basel) ; 14(5)2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38473023

RESUMO

BACKGROUND: Sentinel lymph node (SLN) biopsy in early-stage endometrial cancer is recommended over systematic lymphadenectomy due to reduced morbidity and comparable detection rates. The main objective of this study was to compare the overall and bilateral detection rates of SLN in early-stage endometrial cancer using three techniques. METHODS: a prospective cohort study was designed to detect the difference in SLN detection rate in three cohorts: Indocyanine green (ICG), methylene blue (MB), and tracer combination (ICG + MB). Mapping characteristics, detection rate, number of SLNs, and positive SLNs of the three cohorts were compared. RESULTS: A total of 99 patients were enrolled. A total of 109 SLN sites with 164 lymph nodes were detected. No differences were found between the three cohorts in terms of age, BMI, tumor diameter, or other histologic characteristics. The overall SLN detection rate (DR) was 54.3% in the MB group, 72.7% in ICG, and 80.6% in the ICG-MB group. Bilateral DR was 22.9%, 39.4%, and 54.8% in groups, respectively, with the MB method yielding significantly inferior results. CONCLUSIONS: The ICG-MB group demonstrated superior overall and bilateral detection rates, but a significant difference was found only in the MB cohort. Combining tracer agents can enhance the accuracy of SLN identification in initial-stage endometrial cancer without additional risk to the patient.

3.
Genes (Basel) ; 14(11)2023 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-38003005

RESUMO

Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. In experienced prenatal centers, severe cases of OI can be suspected before birth from the first trimester prenatal ultrasound screening. In this article, we describe a case report of OI suspected at the 26th week of gestation and the patient's outcomes in infancy one year after birth, as well as compare our case to other prenatally or soon-after-birth suspected and/or diagnosed OI clinical case reports in the literature. This case was managed by a multidisciplinary team. In this clinical case, OI was first suspected when prenatal ultrasound revealed asymmetric intrauterine growth restriction and skeletal dysplasia features. The diagnosis was confirmed after birth using COL1A1 gene variant detection via exome sequencing; the COL1A1 gene variant causes OI types I-IV. The familial history was negative for both pregnancy-related risk factors and genetic diseases. At one year old, the patient's condition remains severe with bisphosphonate therapy.


Assuntos
Osteogênese Imperfeita , Gravidez , Feminino , Humanos , Lactente , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/genética , Colágeno Tipo I/genética , Cadeia alfa 1 do Colágeno Tipo I , Diagnóstico Pré-Natal , Retardo do Crescimento Fetal
4.
J Clin Med ; 12(14)2023 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-37510684

RESUMO

Acute abdomen during pregnancy is rare. Despite advances in diagnostic imaging, preoperative diagnosis in the pregnant population due to anatomical and physiological changes can pose difficulties. Diagnosis and surgery delays increase the risk of adverse outcomes for both maternal and fetal health. In symptomatic cases, explorative surgery might be essential for correct diagnosis and patient treatment. Here, we present Meckel's diverticulum as an unusual cause of small bowel obstruction complicated with gangrene in a 34-week pregnant patient. The diagnosis was only apparent during explorative surgical laparotomy.

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