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1.
BMC Endocr Disord ; 24(1): 125, 2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39054438

RESUMEN

BACKGROUND: Parathyroid carcinoma (PC) is a rare malignancy, often diagnosed incidentally through postoperative pathological examination. The occurrence of nodular goiter, intrathyroidal parathyroid carcinoma, contralateral parathyroid adenoma (PA), and papillary thyroid microcarcinoma (PTMC) is extremely uncommon, which prompted us to report our case experience. CASE PRESENTATION: We describe a 67-year-old male who presented with a cervical mass causing tracheal compression, which prompted him to seek medical advice. Based on preoperative auxiliary examination results from color Doppler ultrasound, SPECT parathyroid imaging, and blood tests, he was initially diagnosed with a suspected parathyroid adenoma and nodular goiter. Excision of the right lobe and isthmus of the thyroid, and left superior parathyroid gland was conducted, which were sent to intraoperative frozen pathological examination. During intraoperative observation, adhesion around the right thyroid lobe was discovered. Consequently, right central area lymph node dissection was performed due to suspicion of an aggressive malignant tumor. Histology and immunohistochemistry analysis revealed incidental intrathyroidal parathyroid carcinoma, contralateral parathyroid adenoma, classical papillary thyroid microcarcinoma, and nodular goiter. CONCLUSION: Parathyroid carcinoma should be highly suspected when extremely high levels of PTH and severe hypercalcemia are present, which cannot be simply explained by a preoperatively localized parathyroid adenoma, especially when suspicious malignant adhesion is found during intraoperative exploration. In cases where multifocal thyroid nodules are associated with increased uptake of 99Tc-sestamibi, the possibility of coexisting carcinomas should be considered, not only for thyroid malignancy but also for the potential presence of intrathyroidal parathyroid carcinoma.


Asunto(s)
Carcinoma Papilar , Hiperparatiroidismo Primario , Neoplasias Primarias Múltiples , Neoplasias de las Paratiroides , Neoplasias de la Tiroides , Humanos , Masculino , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/patología , Neoplasias de las Paratiroides/diagnóstico por imagen , Neoplasias de las Paratiroides/diagnóstico , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/cirugía , Neoplasias de la Tiroides/diagnóstico , Anciano , Carcinoma Papilar/patología , Carcinoma Papilar/cirugía , Carcinoma Papilar/diagnóstico , Carcinoma Papilar/diagnóstico por imagen , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/etiología , Hiperparatiroidismo Primario/patología , Hiperparatiroidismo Primario/diagnóstico , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Múltiples/diagnóstico , Hallazgos Incidentales
2.
BMC Womens Health ; 24(1): 375, 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38937781

RESUMEN

BACKGROUND: Peutz-Jeghers syndrome (PJS) is characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation on the lips, oral mucosa, nose, fingers, and toes. Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT) refers to the occurrence of multifocal mucinous lesions in at least two sites, including the cervix, uterus, fallopian tubes, and ovaries, in the female genital tract. SMMN-FGT and PJS are rare diseases with a very low incidence, especially when occurring simultaneously. CASE PRESENTATION: We report a case in which a woman with a large mass on the left ovary underwent a gynecological surgery and was diagnosed with cervical gastric-type adenocarcinoma and mucinous lesions in the endometrium, bilateral fallopian tubes, and ovary, i.e., SMMN-FGT, by postoperative paraffin pathology. The patient sought medical attention for abdominal distension and enlargement. A gynecological ultrasound revealed a multilocular cystic mass in the pelvis, while serum tumor markers were within normal limits, with mildly elevated carbohydrate antigen 199 and carbohydrate antigen 125 levels. Cervical thin-prep cytology test result was negative. The patient had a family history of PJS with black spots on her skin and mucous membranes since the age of 8 years. She underwent multiple partial small bowel resections and gastrointestinal polypectomy owing to intestinal obstruction and intussusception. She underwent left adnexectomy, hysterectomy, right salpingectomy, greater omental resection, appendectomy and right ovary biopsy, and received six courses of adjuvant chemotherapy with Lopressor plus Carboplatin. Genetic testing revealed a heterozygous serine threonine kinase 11 germline mutation and there were no signs of recurrence during the 18-month follow-up period after treatment. CONCLUSIONS: This is a rare case in which PJS was complicated by SMMN-FGT. Owing to its extreme rarity, there are no guidelines, but reported cases appear to indicate a poor prognosis. We retrospectively reviewed all cases of collisions between PJS and SMMN-FGT and explored the clinical features, pathological characteristics, diagnosis, treatment methods, and prognosis when the two diseases coexisted. The aim is to deepen the clinicians' understanding of this disease for early detection, diagnosis and treatment.


Asunto(s)
Metaplasia , Síndrome de Peutz-Jeghers , Humanos , Femenino , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/patología , Neoplasias de los Genitales Femeninos/patología , Neoplasias de los Genitales Femeninos/diagnóstico , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patología , Adenocarcinoma Mucinoso/complicaciones , Neoplasias Ováricas/patología , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/complicaciones , Adulto , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/patología , Neoplasias del Cuello Uterino/complicaciones , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/diagnóstico
3.
BMC Pulm Med ; 24(1): 93, 2024 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-38388422

RESUMEN

BACKGROUND: Although lung and breast cancers are common malignancies, the occurrence of primary synchronous neoplasms involving these organs has been rarely reported in literature. CASE PRESENTATION: A 75-year-old female patient presented at a local hospital with a ten-day history of dizziness and slurred speech. A CT contrast-enhanced scan revealed a 4.2 cm mass in the lower lobe of the right lung and a 3.8 cm space-occupying lesion in the right breast. Subsequent breast ultrasound identified a hypoechoic lesion measuring5.41 × 4.75 × 3.06 cm in the right breast, and an ultrasound-guided biopsy confirmed the presence of infiltrating ductal carcinoma of the right breast. The immunohistochemistry analysis of the breast mass revealed positive staining for ER, PR, HER-2, AR and Ki67 in the tumor cells, while negative staining was observed for P63, Calponin, CK5/6 and CK14. MR imaging of the head detected abnormal signals in the right frontal lobe (3.6 cm×2.9 cm in size), left cerebellar hemisphere, and punctate enhancement in the left temporal lobe, indicating potential metastasis. Pathological examination of a lung biopsy specimen confirmed the presence of small cell lung cancer (SCLC). Furthermore, immunohistochemistry analysis of the lung lesions demonstrated positive staining for TTF-1, CK-Pan, Syn, CgA, CD56, P53 (90%) and Ki67 (70%), and negative staining for NapsinA and P40 in the tumor cells. The patient's diagnosis of SCLC with stage cT2bN0M1c IVB and brain metastases (BM), as well as invasive ductal breast carcinoma (IDC), was confirmed based on the aforementioned results. Whereupon we proposed a treatment plan consisting of whole-brain radiation (40 Gy/20fractions), focal radiotherapy (60 Gy/20fractions), and adjuvant concurrent chemotherapy with oral etoposide (50 mg on days 1 to 20). CONCLUSIONS: To the best of our knowledge, the present case is the first of its kind to describe the synchronous double cancer, consisting of primary SCLC and IDC.


Asunto(s)
Neoplasias de la Mama , Carcinoma Ductal de Mama , Neoplasias Pulmonares , Neoplasias Primarias Múltiples , Carcinoma Pulmonar de Células Pequeñas , Anciano , Femenino , Humanos , Neoplasias de la Mama/terapia , Neoplasias de la Mama/patología , Quimioterapia Adyuvante , Antígeno Ki-67 , Carcinoma Pulmonar de Células Pequeñas/diagnóstico por imagen , Neoplasias Primarias Múltiples/diagnóstico
4.
Khirurgiia (Mosk) ; (8): 57-63, 2024.
Artículo en Ruso | MEDLINE | ID: mdl-39140944

RESUMEN

We present a combination of distal cholangiocarcinoma of the intrapancreatic common bile duct and intraductal papillary mucinous tumor associated with ductal adenocarcinoma of the pancreatic tail. This clinical case is unique. When analyzing the literature, we found no any case of similar primary multiple malignant tumor. Importantly, final diagnosis of simultaneous malignant pancreatobiliary neoplasia is possible only via intraoperative biopsy after adequate morphological dissection and research of resected organ complex including molecular genetic analysis due to identical histological and immunohistochemical picture of ductal neoplasia.


Asunto(s)
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Colangiocarcinoma , Neoplasias Primarias Múltiples , Humanos , Colangiocarcinoma/diagnóstico , Colangiocarcinoma/cirugía , Colangiocarcinoma/patología , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/diagnóstico , Carcinoma Ductal Pancreático/cirugía , Carcinoma Ductal Pancreático/diagnóstico , Carcinoma Ductal Pancreático/patología , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/cirugía , Adenocarcinoma Mucinoso/patología , Masculino , Neoplasias de los Conductos Biliares/cirugía , Neoplasias de los Conductos Biliares/diagnóstico , Neoplasias de los Conductos Biliares/patología , Neoplasias Pancreáticas/cirugía , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patología , Neoplasias del Conducto Colédoco/cirugía , Neoplasias del Conducto Colédoco/diagnóstico , Neoplasias del Conducto Colédoco/patología , Conducto Colédoco/cirugía , Conducto Colédoco/patología , Persona de Mediana Edad , Pancreatectomía/métodos , Resultado del Tratamiento , Anciano , Tomografía Computarizada por Rayos X/métodos
5.
Vestn Otorinolaringol ; 89(3): 69-76, 2024.
Artículo en Ruso | MEDLINE | ID: mdl-39104276

RESUMEN

CLINICAL CASE: The 59-year-old patient complained of hearing loss on the left, ear murmur for a long time, periodic pain and discomfort in the left ear, dizziness for 6 months. She was found to have concurrent vestibular schwannoma in the internal auditory canal and temporal bone paraganglioma. Both tumors were removed in one operation. The schwannoma was removed by translabirinth access due to preoperative deafness, while the glomus tumor was removed during this access. Postoperative biopsy showed the presence of two unrelated diseases: paraganglioma (ICD-0 code 8690/3) and schwannoma (ICD-0 code 9560/0).


Asunto(s)
Oído Interno , Oído Medio , Paraganglioma , Humanos , Persona de Mediana Edad , Femenino , Oído Medio/cirugía , Oído Medio/patología , Oído Interno/cirugía , Paraganglioma/cirugía , Paraganglioma/complicaciones , Paraganglioma/diagnóstico , Neoplasias del Oído/cirugía , Neoplasias del Oído/complicaciones , Neoplasias del Oído/diagnóstico , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/patología , Neuroma Acústico/cirugía , Neuroma Acústico/complicaciones , Neuroma Acústico/diagnóstico , Neoplasias de los Nervios Craneales/cirugía , Neoplasias de los Nervios Craneales/diagnóstico , Neoplasias de los Nervios Craneales/complicaciones , Procedimientos Quirúrgicos Otológicos/métodos , Hueso Temporal/cirugía , Hueso Temporal/patología
6.
Medicina (Kaunas) ; 59(5)2023 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-37241226

RESUMEN

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.


Asunto(s)
Adenocarcinoma , Neoplasias de la Mama , Carcinoma de Células Escamosas , Neoplasias Primarias Múltiples , Enfermedad de Paget Extramamaria , Neoplasias del Cuello Uterino , Neoplasias de la Vulva , Femenino , Humanos , Persona de Mediana Edad , Cuello del Útero/patología , Enfermedad de Paget Extramamaria/diagnóstico , Enfermedad de Paget Extramamaria/patología , Adenocarcinoma/diagnóstico , Neoplasias de la Vulva/diagnóstico , Neoplasias de la Vulva/patología , Neoplasias de la Mama/patología , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias Primarias Múltiples/diagnóstico , Carcinoma de Células Escamosas/diagnóstico
7.
Am J Dermatopathol ; 44(4): 306-311, 2022 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-34999598

RESUMEN

PURPOSE: To report a case of neurofibroma involving the lymph nodes and to perform a literature review on this topic. OBSERVATIONS: A 72-year-old woman with a history of neurofibromatosis and biopsy-proven malignant melanoma of the left forearm underwent wide local excision of the malignant lesion along with sentinel axillary lymph node biopsy. Histological examination of axillary nodes revealed diffuse neurofibromatosis within 2 lymph node capsules. A thorough review of the English literature pertaining to intranodal neurofibroma was performed by querying Google Scholar and PubMed. Only 5 cases of intranodal neurofibroma have been described until now. CONCLUSIONS AND IMPORTANCE: Neurofibroma involving the lymph nodes is rare and this is the first reported case that is shown to diffusely involve the intracapsular space. Furthermore, intranodal neurofibroma can represent a diagnostic pitfall in the evaluation of sentinel lymph nodes for metastatic melanoma.


Asunto(s)
Melanoma/diagnóstico , Neoplasias Primarias Múltiples/diagnóstico , Neurofibroma/diagnóstico , Neurofibromatosis , Ganglio Linfático Centinela/patología , Neoplasias Cutáneas/diagnóstico , Anciano , Axila , Diagnóstico Diferencial , Resultado Fatal , Femenino , Antebrazo , Humanos , Melanoma/complicaciones , Melanoma/secundario , Neoplasias Primarias Múltiples/complicaciones , Neoplasias Primarias Múltiples/patología , Neurofibroma/complicaciones , Neurofibroma/patología , Biopsia del Ganglio Linfático Centinela , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/patología
8.
Am J Otolaryngol ; 43(2): 103349, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34991020

RESUMEN

OBJECTIVES: To investigate the incidence of synchronous malignancies identified during triple endoscopy in patients with head and neck squamous cell carcinoma. METHODS: A retrospective chart review of patients from a tertiary academic medical center was performed. Patients with a primary head and neck squamous cell carcinoma who underwent triple endoscopy were included. Operative, radiographic, and pathology reports were reviewed to evaluate for the presence of synchronous malignancies in the aerodigestive tract diagnosed through endoscopy. Demographics, relevant medical history, including tobacco and alcohol use, and tumor characteristics were recorded. Univariate and multivariate regression analyses were conducted to assess for associations with synchronous malignancy on triple endoscopy. RESULTS: 215 patients were reviewed, 164 of which had a biopsy-positive head and neck squamous cell carcinoma and underwent triple endoscopy. Synchronous lesions were found in 8 patients (4.9%). Of the synchronous lesions, only two were identified on esophagoscopy and bronchoscopy; the remaining six were found on direct laryngoscopy. Clinical comorbidities including smoking and alcohol history, tumor p16 status, and tumor stage were not associated with presence of synchronous lesions. A positive synchronous lesion on positron emission tomography was significantly correlated with finding a synchronous lesion on triple endoscopy (p = 0.006). CONCLUSION: This study shows the incidence of synchronous lesions on triple endoscopy to be closer to 5%. While endoscopic examination can be useful in the anatomic characterization of head and neck malignancies, the low incidence of synchronous malignancies suggests that the need for triple endoscopy may be considered on a case-by-case basis.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de Cabeza y Cuello , Neoplasias Primarias Múltiples , Carcinoma de Células Escamosas/patología , Endoscopía/métodos , Esofagoscopía , Neoplasias de Cabeza y Cuello/epidemiología , Humanos , Incidencia , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/epidemiología , Estudios Retrospectivos
9.
Acta Chir Belg ; 122(5): 373-376, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33502945

RESUMEN

BACKGROUND: Collision tumors are defined as the juxtaposition of two histologically distinct tumors, which form a single mass, without histological mixing of the two tissues. They are extremely rare, especially in the digestive tract. CLINICAL PRESENTATION: An 81-year-old patient was admitted for anemia, diarrhea and palpable abdominal mass. The colonoscopy showed a substenosing tumor of the transverse colon. On abdominal CT, the colonic mass invaded the stomach. After surgical treatment with transverse colectomy and associated partial longitudinal gastrectomy, pathological results showed that it was a collision between a primary gastric adenocarcinoma and a primary colonic adenocarcinoma. CONCLUSION: We report a first case of collision tumor between a primary gastric adenocarcinoma and a primary colonic adenocarcinoma. Current knowledge on the subject is extremely limited.


Asunto(s)
Adenocarcinoma , Neoplasias del Colon , Neoplasias Primarias Múltiples , Neoplasias Gástricas , Adenocarcinoma/diagnóstico , Adenocarcinoma/patología , Adenocarcinoma/cirugía , Anciano de 80 o más Años , Colectomía , Neoplasias del Colon/diagnóstico , Neoplasias del Colon/patología , Neoplasias del Colon/cirugía , Gastrectomía , Humanos , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/cirugía , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patología , Neoplasias Gástricas/cirugía
10.
Zhonghua Jie He He Hu Xi Za Zhi ; 45(8): 826-834, 2022 Aug 12.
Artículo en Zh | MEDLINE | ID: mdl-35927054

RESUMEN

With the application of high-resolution chest imaging system and lung cancer screening program, patients with multiple primary lung cancer (MPLC) are becoming a growing population in clinical practice. However, the diagnostic criteria of MPLC and its differentiation from intrapulmonary metastasis of lung cancer (IM) are still controversial, especially in cases with similar histology. On the basis of reviewing the existing literature, this paper discusses the changes of the diagnostic criteria of MPLC and the differential diagnosis methods of imaging, histology and molecular genetics of MPLC and IM, and briefly introduces the application of multidisciplinary diagnosis, algorithm, predictive model and artificial intelligence in the differential diagnosis of MPLC. In addition, we also discuss the latest progress in the treatment of MPLC. Radical surgery is the main method for the treatment of MPLC. Stereotactic body radiation therapy (SBRT) is safe and feasible for inoperable MPLC patients, and targeted therapy and immunotherapy can also be used in MPLC after appropriate patient selection.


Asunto(s)
Neoplasias Pulmonares , Neoplasias Primarias Múltiples , Inteligencia Artificial , Detección Precoz del Cáncer , Humanos , Neoplasias Pulmonares/tratamiento farmacológico , Neoplasias Pulmonares/terapia , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/cirugía
11.
J Urol ; 206(3): 548-557, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33881933

RESUMEN

PURPOSE: We compared upper tract urothelial carcinoma (UTUC) and bladder urothelial carcinoma (BUC) in same-patient metachronous UTUC and synchronous UTUC and BUC using next-generation sequencing. MATERIALS AND METHODS: Consecutive untreated same-patient samples of UTUC and BUC were macrodissected from unstained formalin-fixed, paraffin-embedded slides after quality control. Samples were divided into 4 groups: 1) UTUC-metachronous BUC, 2) BUC-metachronous UTUC, 3) synchronous UTUC-BUC, 4) UTUC without BUC. Exclusions were inadequate clinical data or histological tumor purity <30%. Whole transcriptome RNA sequencing was performed. After quality assessment, gene expression clusters using unsupervised hierarchical consensus clustering and correlation with pertinent clinicopathologic variables, a prior RNASeq data set and other published data were performed. RESULTS: RNAseq was performed on 95 samples (UTUC=61, BUC=34) from 40 untreated patients. Unsupervised consensus clustering segregated the tumors into 2 clusters that were enriched with BASE47 basal-like or luminal-like gene expression. Almost two-thirds (61.9%) of Group 2 tumors were basal-like, while the majority of Groups 1, 3, 4 (80.6%, 70.0% and 69.6%, respectively) were luminal-like (p=0.017). Further analyses revealed that the differences in basal-like and luminal-like gene expression were associated with differential fibroblast and immune cell gene expression signatures. In all, 87.5% of metachronous tumors maintained subtype membership. CONCLUSIONS: Gene expression analysis of same-patient metachronous UTUC-BUC suggests that the majority of mUTUC developing after BUC appear more basal-like, while synchronous and initial UTUC tumors appear luminal-like. Metachronous tumors largely maintain molecular subtype membership of the initial tumor regardless of chronologic development or anatomical origin.


Asunto(s)
Carcinoma de Células Transicionales/diagnóstico , Neoplasias Renales/diagnóstico , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Secundarias/diagnóstico , Neoplasias Ureterales/diagnóstico , Neoplasias de la Vejiga Urinaria/diagnóstico , Anciano , Biomarcadores de Tumor/genética , Carcinoma de Células Transicionales/genética , Carcinoma de Células Transicionales/inmunología , Carcinoma de Células Transicionales/cirugía , Femenino , Regulación Neoplásica de la Expresión Génica/inmunología , Humanos , Riñón/inmunología , Riñón/patología , Riñón/cirugía , Neoplasias Renales/genética , Neoplasias Renales/inmunología , Neoplasias Renales/cirugía , Masculino , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/inmunología , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Secundarias/genética , Neoplasias Primarias Secundarias/inmunología , Neoplasias Primarias Secundarias/cirugía , RNA-Seq , Microambiente Tumoral/genética , Microambiente Tumoral/inmunología , Uréter/inmunología , Uréter/patología , Uréter/cirugía , Neoplasias Ureterales/genética , Neoplasias Ureterales/inmunología , Neoplasias Ureterales/cirugía , Vejiga Urinaria/inmunología , Vejiga Urinaria/patología , Vejiga Urinaria/cirugía , Neoplasias de la Vejiga Urinaria/genética , Neoplasias de la Vejiga Urinaria/inmunología , Neoplasias de la Vejiga Urinaria/cirugía
12.
Dis Colon Rectum ; 64(9): 1058-1063, 2021 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-34039904

RESUMEN

BACKGROUND: Approximately 1 in 20 cases of colorectal cancer are caused by monogenic syndromes. Published guidelines recommend that patients with 10 or more adenomas be referred for genetic testing, based on evidence that colorectal cancer risk is associated with adenoma multiplicity. OBJECTIVE: The aim of this study was to determine adherence to guidelines on referral for genetic screening in patients with 10 or more adenomas. DESIGN: A cross-sectional study was performed of prospectively collected data from the UK Bowel Cancer Screening Programme between May 2007 and June 2018. Only histologically confirmed adenomas were included. Clinicopathological data were recorded from patient records, and referrals to clinical genetics services were ascertained. SETTING: Data were obtained from 3 centers in London, United Kingdom. PATIENTS: A total of 17,450 subjects underwent colonoscopy following an abnormal fecal occult blood test. MAIN OUTCOME MEASURES: We quantified patients with 10 or more adenomas and the proportion referred for genetic screening. RESULTS: The adenoma detection rate was 50.6% among 17,450 patients who underwent colonoscopy (8831 had 1 or more adenomas). Three hundred forty-seven patients (2.0%) had 10 or more adenomas. Patients with 10 or more adenomas were more likely to be male than those with fewer than 10 adenomas (76.9% vs 53.4%; p < 0.0001). A family history was collected in 37.8% of the multiple adenoma population. Of 347 patients with 10 or more adenomas, 28 (8.1%) were referred for genetic assessment. LIMITATIONS: All 3 screening centers were in a single city. No genetic outcome data were available to permit analysis of actual rates of inherited cancer syndromes in this population. CONCLUSIONS: In this study, almost 1 in 50 patients had 10 or more adenomas. Despite guidelines advising genetic testing in this group, referral rates are low. A referral pathway and management strategies should be established to address this patient population. See Video Abstract at http://links.lww.com/DCR/B630. TASAS BAJAS DE DERIVACIN PARA LA EVALUACIN GENTICA DE PACIENTES CON ADENOMAS MLTIPLES EN LOS PROGRAMAS DE DETECCIN DEL CNCER DE INTESTINO DEL REINO UNIDO: ANTECEDENTES:Aproximadamente uno de cada veinte casos de cáncer colorrectal son causados por síndromes monogénicos. Las pautas publicadas recomiendan que los pacientes con diez o más adenomas sean derivados para pruebas genéticas, basándose en la evidencia de que el riesgo de cáncer colorrectal está asociado con la multiplicidad de adenomas.OBJETIVO:El objetivo de este estudio fue determinar la adherencia a las guías de derivación para cribado genético en pacientes con diez o más adenomas.DISEÑO:Se realizó un estudio transversal de datos recolectados prospectivamente del Programa de Detección de Cáncer de Intestino del Reino Unido entre mayo de 2007 y junio de 2018. Solo se incluyeron los adenomas confirmados histológicamente. Los datos clínico-patológicos se registraron a partir de los registros de los pacientes y se determinaron las derivaciones a los servicios de genética clínica.AJUSTE ENTORNO CLINICO:Los datos se obtuvieron de tres centros en Londres, Reino Unido.PACIENTES:Un total de 17.450 17450 sujetos pacientes se sometieron a una colonoscopia después de una prueba de sangre oculta en heces anormal positiva.PRINCIPALES MEDIDAS DE RESULTADO VOLARACION:cuantificamos los pacientes con diez o más adenomas y la proporción remitida para cribado genético.RESULTADOS:La tasa de detección de adenomas fue del 50,6% entre 17.450 17450 pacientes que se sometieron a colonoscopia (8.831 8831 tenían uno o más adenomas). 347 pacientes (2,0%) tenían 10 o más adenomas. Los pacientes con 10 o más adenomas tenían más probabilidades de ser hombres que aquellos con menos de 10 adenomas (76,9% frente versus a 53,4%; p <0,0001). Se recogieron antecedentes familiares en el 37,8% de la población de adenomas múltiples. De 347 pacientes con 10 o más adenomas, 28 (8,1%) fueron remitidos para evaluación genética.LIMITACIONES:Los tres centros de detección se encontraban en una sola ciudad. No se disponía de datos de resultados genéticos que permitieran el análisis de las tasas reales de síndromes de cáncer hereditario en esta población.CONCLUSIONES:En este estudio, casi uno de cada cincuenta pacientes tenía diez o más adenomas. A pesar de las pautas que recomiendan las pruebas genéticas en este grupo, las tasas de derivación son bajas. Se debe establecer una vía de derivación y estrategias de manejo para abordar esta población de pacientes. Consulte Video Resumen en http://links.lww.com/DCR/B630.


Asunto(s)
Adenoma/diagnóstico , Neoplasias Colorrectales/diagnóstico , Pruebas Genéticas/estadística & datos numéricos , Adhesión a Directriz/estadística & datos numéricos , Neoplasias Primarias Múltiples/diagnóstico , Derivación y Consulta/estadística & datos numéricos , Adenoma/genética , Adenoma/patología , Anciano , Anciano de 80 o más Años , Colonoscopía , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Estudios Transversales , Detección Precoz del Cáncer/estadística & datos numéricos , Femenino , Humanos , Masculino , Anamnesis/estadística & datos numéricos , Persona de Mediana Edad , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/patología , Sangre Oculta , Guías de Práctica Clínica como Asunto , Reino Unido
13.
Pediatr Blood Cancer ; 68(5): e28920, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33644927

RESUMEN

INTRODUCTION: Diffuse liver lesions in an infant have a differential diagnosis including infantile hemangioma (IH), which is common in the first year of life, and neuroblastoma (NBL) which presents at a median age of 18 months. RESULTS: We describe the case of a 4-month-old girl with a known superficial/deep IH who presented with new axillary nodules and hepatosplenomegaly, initially suspected to reflect IH but later determined to be widely metastatic NBL. CONCLUSION: Hepatic IH and metastatic NBL can present similarly. Clinicians must maintain a broad differential when evaluating new findings in a patient with previously diagnosed IH.


Asunto(s)
Hemangioma/patología , Neoplasias Hepáticas/patología , Neoplasias Primarias Múltiples/diagnóstico , Neuroblastoma/patología , Neoplasias Cutáneas/patología , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Neoplasias Hepáticas/diagnóstico , Neoplasias Primarias Múltiples/patología , Neuroblastoma/diagnóstico
14.
BMC Neurol ; 21(1): 29, 2021 Jan 19.
Artículo en Inglés | MEDLINE | ID: mdl-33468071

RESUMEN

BACKGROUND: Symplastic hemangioma is a benign superficial abnormal buildup of blood vessels, with morphological features which can mimic a pseudo malignancy. A few cases have been reported in the literature. We report here, a unique case of calvarial symplastic hemangioma, which is the first case in the calvarial region. CASE PRESENTATION: A 29-year-old male patient, with a left occipital calvarial mass since childhood, that gradually increased in size with age, was associated with recurrent epileptic fits controlled by Levetiracetam (Keppra), with no history of trauma. He presented to the emergency room with a recent headache, vomiting, frequent epileptic fits and a decrease in the level of consciousness 1 day prior to admission. A CT scan showed three diploic, expansile, variable sized lytic lesions with a sunburst appearance; two that were biparietal, and one that was left occipital, which were all suggestive of calvarial hemangiomas. However, the large intracranial soft tissue content, within the hemorrhage of the occipital lesion was concerning. The patient had refused surgery over the years; however, after the last severe presentation, he finally agreed to treatment. The two adjacent, left parietal and occipital lesions were treated satisfactorily using preoperative embolization, surgical resection, and cranioplasty. Histopathology revealed cavernous hemangiomas, in addition to symplastic hemangioma (pseudo malignancy features) on top at the occipital lesion. The right parietal lesion was not within the surgical field; therefore, it was left untouched for follow-up. CONCLUSIONS: Histopathology and radiology examinations confirmed the diagnosis as symplastic hemangioma, on top of a pre-existing cavernous hemangioma. To the best of our knowledge, this is the first case of a calvarial symplastic hemangioma, which we report here.


Asunto(s)
Hemangioma Cavernoso/patología , Neoplasias Primarias Múltiples/patología , Neoplasias Craneales/patología , Adulto , Embolización Terapéutica , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/terapia , Humanos , Masculino , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/terapia , Neoplasias Craneales/diagnóstico , Neoplasias Craneales/terapia , Tomografía Computarizada por Rayos X
15.
Gynecol Endocrinol ; 37(7): 672-675, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34137345

RESUMEN

BACKGROUND: Pure Leydig cell tumors (LCTs) represent 0.1% of ovarian masses. Postmenopausal patients typically present with virilization. Although LCTs can be challenging to locate on conventional imaging, positron emission tomography (PET) has been demonstrated to be effective. CASE: A 64-year-old postmenopausal woman presented with alopecia, facial hirsutism, and clitoromegaly. Laboratory findings included elevated testosterone and androstenedione. Ultrasound, computed tomography, and magnetic resonance imaging showed no adnexal masses. PET did not demonstrate ovarian fludeoxyglucose-avidity. Histopathology after bilateral salpingo-oophorectomy revealed bilateral Leydig cell tumors. Her testosterone normalized 2 weeks postoperatively. CONCLUSION: We describe the occult, symptomatic, bilateral ovarian Leydig cell tumors, an occurrence that has not been described in the literature. Virilizing tumors must be considered in patients with evidence of hyperandrogenism, even without pelvic masses on imaging.


Asunto(s)
Tumor de Células de Leydig/patología , Neoplasias Primarias Múltiples/patología , Neoplasias Ováricas/patología , Virilismo/diagnóstico , Androstenodiona/metabolismo , Femenino , Humanos , Tumor de Células de Leydig/complicaciones , Tumor de Células de Leydig/diagnóstico , Tumor de Células de Leydig/cirugía , Imagen por Resonancia Magnética , Persona de Mediana Edad , Neoplasias Primarias Múltiples/complicaciones , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/cirugía , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/cirugía , Tomografía de Emisión de Positrones , Posmenopausia , Salpingooforectomía , Testosterona/metabolismo , Virilismo/etiología , Virilismo/metabolismo
16.
Surg Today ; 51(1): 153-158, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32638131

RESUMEN

PURPOSE: We evaluated the efficacy of the long-term follow-up of patients who underwent radical esophagectomy for esophageal squamous cell carcinoma (ESCC) to screen for recurrence and new primary malignancies. METHODS: We retrospectively collected 448 ESCC patients who underwent radical esophagectomy. Esophagogastroduodenoscopy, computed tomography, a stool test and the assessment of the serum concentration of squamous cell carcinoma antigen and carcinoembryonic antigen were performed annually, even over 5 years after esophagectomy. The incidence of ESCC recurrence and new primary malignancies was investigated. RESULTS: We enrolled 222 patients who survived at least 5 years after esophagectomy. A total of 104 new primary malignancies occurred in 82 patients (36.9%) after esophagectomy. Twenty-one malignancies were in the head and neck region, 14 in the residual esophagus, 13 in the prostate and 11 in the gastric tube and lung. Patients who developed new primary malignancies after esophagectomy had a significantly higher Brinkman index than those without new malignancies. An endoscopic approach successfully treated 92.9% of carcinomas in the residual esophagus, 90.9% of cancers in the gastric tube and 42.9% of carcinomas in the head and neck region. CONCLUSION: The incidence of new primary malignancies was higher than the age-standardized incidence. Long-term follow-up and systemic screening may increase the probability of an early diagnosis and subsequent low-invasive treatment.


Asunto(s)
Biomarcadores de Tumor/sangre , Supervivientes de Cáncer , Carcinoma de Células Escamosas/cirugía , Neoplasias Esofágicas/cirugía , Esofagectomía , Recurrencia Local de Neoplasia/diagnóstico , Neoplasias Primarias Múltiples/diagnóstico , Anciano , Antígenos de Neoplasias/sangre , Antígeno Carcinoembrionario/sangre , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/epidemiología , Neoplasias Primarias Múltiples/epidemiología , Estudios Retrospectivos , Factores de Tiempo , Tomografía Computarizada por Rayos X
17.
Ter Arkh ; 93(7): 793-799, 2021 Jul 23.
Artículo en Ruso | MEDLINE | ID: mdl-36286730

RESUMEN

The prevalence of multiple primary tumors has significantly increased last time. The question of choosing the optimal tactics of therapy today not fully resolved. Particular interest is the simultaneous detection of two neoplasms of similar origin in one study biopsy material. This publication presents a case of simultaneous diagnosis of myeloid sarcoma and mantle cell lymphoma in a 65-year-old patient, which required use of two different chemotherapy protocols. This example shows the need to use an extended diagnostic approach at all stages of the therapy, which allows choosing right tactics of therapy and achieving complete remission of two neoplasms.


Asunto(s)
Linfoma de Células del Manto , Neoplasias Primarias Múltiples , Sarcoma Mieloide , Adulto , Humanos , Anciano , Linfoma de Células del Manto/diagnóstico , Linfoma de Células del Manto/tratamiento farmacológico , Linfoma de Células del Manto/patología , Sarcoma Mieloide/diagnóstico , Sarcoma Mieloide/tratamiento farmacológico , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biopsia
18.
Chirurgia (Bucur) ; 116(eCollection): 1-9, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34463245

RESUMEN

Synchronous tumours of the pancreas are rare encounters, with few reported cases. Thus, new information can be brought about the diagnosis, proper management, and prognosis of cases. We believe that the presentation of this case can help to establish relevant conclusions. We report the case of a 54-year-old man, with the preoperative diagnosis of a cephalic intraductal papillary mucinous neoplasm (IPMN), who underwent a planned cephalic pancreatoduodenectomy with completion to total pancreatectomy based on the intraoperative extemporaneous histopathological examination of the resection margin. The final histopathological diagnosis was cephalic IPMN associated with invasive ductal adenocarcinoma (PDAC) and a small well-differentiated neuroendocrine tumour (NET) in the tail of the pancreas. No recurrence was detected in the 3 years of follow-up. We conducted a review of the literature to illustrate the particularities of the presented case; it identified 4 articles about the association of PDAC and NET and 8 articles regarding the association of IPMN with NET. Only 2 patients had a histopathological diagnosis of three synchronous tumours (IPMN, PDAC, and NET). We present a rare case of three synchronous pancreatic tumours, with a favourable evolution after a total pancreatectomy, only two other similar cases being reported in medical literature.


Asunto(s)
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Neoplasias Primarias Múltiples , Tumores Neuroendocrinos , Neoplasias Pancreáticas , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/cirugía , Carcinoma Ductal Pancreático/diagnóstico , Carcinoma Ductal Pancreático/cirugía , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/cirugía , Tumores Neuroendocrinos/diagnóstico , Tumores Neuroendocrinos/cirugía , Páncreas/cirugía , Pancreatectomía , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/cirugía , Resultado del Tratamiento
19.
Khirurgiia (Mosk) ; (3): 62-65, 2021.
Artículo en Ruso | MEDLINE | ID: mdl-33710828

RESUMEN

Two patients with locally advanced gastric cancer are reported. Both patients underwent colonoscopy in preoperative period. Preoperative examination revealed synchronous colorectal cancer. Preoperative colonoscopy in patients with gastric cancer ensured timely diagnosis of synchronous colorectal cancer and adequate minimally invasive treatment with favorable results.


Asunto(s)
Neoplasias del Colon , Neoplasias Primarias Múltiples , Neoplasias Gástricas , Neoplasias del Colon/diagnóstico , Neoplasias del Colon/cirugía , Colonoscopía , Humanos , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/cirugía , Cuidados Preoperatorios , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patología , Neoplasias Gástricas/cirugía
20.
BMC Med Genet ; 21(1): 52, 2020 03 14.
Artículo en Inglés | MEDLINE | ID: mdl-32171268

RESUMEN

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review. CASE PRESENTATION: A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13. CONCLUSIONS: To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.


Asunto(s)
Síndrome de Birt-Hogg-Dubé/complicaciones , Neoplasias Gastrointestinales/complicaciones , Tracto Gastrointestinal/patología , Pólipos/complicaciones , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/genética , Diagnóstico Diferencial , Neoplasias Gastrointestinales/diagnóstico , Neoplasias Gastrointestinales/genética , Humanos , Hiperplasia/complicaciones , Hiperplasia/diagnóstico , Hiperplasia/genética , Pólipos Intestinales/complicaciones , Pólipos Intestinales/diagnóstico , Pólipos Intestinales/genética , Masculino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/genética , Pólipos/diagnóstico , Pólipos/genética , Proteínas Proto-Oncogénicas/genética , Proteínas Supresoras de Tumor/genética
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