scholarly journals Coexistence of multiple gastrointestinal stromal tumors and signet ring cell carcinoma of stomach in a patient with neurofibromatosis type-1: case report

2013 ◽  
Vol 29 (1) ◽  
pp. 64
Author(s):  
Nermin Karahan ◽  
Sirin Baspinar ◽  
Kemal Kursat Bozkurt ◽  
Tuba Devrim ◽  
Fatma Nilgun Kapucuoglu
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Gastrointestinal Stromal Tumors ◽  
Neurofibromatosis Type ◽  
Signet Ring Cell Carcinoma ◽  
Signet Ring Cell ◽  
Stromal Tumors ◽  
Signet Ring ◽  
Ring Cell

Gastrointestinal stromal tumors in neurofibromatosis type 1

2009 ◽  
Vol 150 (4) ◽  
pp. 149-153 ◽  
Author(s):  
Judit Bajor
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Gastrointestinal Stromal Tumors ◽  
Neurofibromatosis Type ◽  
Stromal Tumors

Az 1-es típusú neurofibromatosis, más néven Recklinghausen-kór a leggyakoribb autoszomális dominánsan öröklődő betegségek egyike. A neurofibromatosis génje a 17-es kromoszómán található NF1 tumorszuppresszor gén. A gén mutációja a tumorszuppresszor funkció kiesése következtében benignus és malignus tumorok kialakulásához vezet. Gastrointestinalis manifesztáció az esetek 25%-ában észlelhető, a leggyakrabban GIST. Az irodalomban jól ismert a két betegség szoros asszociációja, jelenleg már több mint 160 esetről van tudomásunk. Neurofibromatosisos betegek 7%-ában alakul ki GIST, és a GIST-betegek között az NF1 előfordulása 150-180-szoros az átlagpopulációhoz képest. A neurofibromatosishoz társuló GIST külön entitás, a sporadikus GIST-től eltérően általában multiplex, és szinte mindig a vékonybélben fordul elő. Enyhe női túlsúllyal, általában fiatalabb korban jelenik meg. Szövettani jellemzői közül az orsósejtes típus, a skeinoid testek jelenléte és a gyakori S100-pozitivitás emelhető ki. Mitotikus aktivitása alacsony, általában a prognózisa is kedvezőbb. A sporadikus GIST-re jellemző c-KIT- és PDGFRA-mutáció igen ritkán fordul elő, azzal a hipotézissel összhangban, hogy a neurofibromatosishoz társuló GIST patogenezise nem c-KIT-függő. Feltételezik, hogy neurofibromatosisban a GIST patomechanizmusa különbözik a sporadikustól, a GIST-tumor megjelenése a neurofibromatosis klinikai spektrumának része. C-KIT- és PDGFRA-mutáció az ismert néhány esetben feltehetőleg a tumorgenezis késői lépéseként alakul ki. A GIST terápiáját forradalmasító imatinib ebben a betegcsoportban nem hatékony, de kellő mennyiségű adat még nem áll rendelkezésre.

Cytology Detects Endobronchial Metastasis from Appendiceal Signet-Ring Cell Carcinoma in the Absence of Radiographic Lung Masses: A Case Report

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S44-S44
Author(s):  
B W Taylor ◽  
K Hummel ◽  
Y Xu
Keyword(s):  
Case Report ◽  
Respiratory Distress ◽  
Cell Carcinoma ◽  
Signet Ring Cell Carcinoma ◽  
Signet Ring Cell ◽  
Signet Ring Cells ◽  
Endobronchial Metastasis ◽  
Signet Ring ◽  
Ring Cell ◽  
The Right

Abstract Introduction/Objective Endobronchial metastasis (EBM) is uncommon, with a reported prevalence of 2% in cases of non-lung primary malignancies. The most frequently observed carcinomas in EBM are from breast, colon, and renal origins. We present a rare case of endobronchial metastasis from a primary tumor of the appendix without lung masses by computed tomography (CT). Methods/Case Report An 83-year-old woman with signet-ring cell carcinoma of the appendix underwent right hemicolectomy and chemotherapy. Two years later, she returned with intractable nausea and vomiting, and respiratory distress. CT of the chest demonstrated diffuse bilateral pulmonary opacities without lung masses. CT of the abdomen showed peritoneal carcinomatosis. Cytology of ascitic fluid displayed metastasis of the patient’s known appendiceal tumor. Bronchoscopy found significant friable debris appearing to be tumor tissue and occluding multiple bronchioles in the right lung. A bronchoalveolar lavage (BAL) specimen from the right lung was sent for liquid-based cytology, which revealed a few atypical cells with eccentric nuclei and intracytoplasmic vacuoles, abundant macrophages, degenerated mixed inflammatory cells, and scattered bronchial epithelial cells. Cell block demonstrated signet-ring cells mimicking macrophages and infiltrating into small fragments of bronchiolar wall. The signet-ring cells were morphologically similar to those found in the ascitic fluid and the patient’s primary tumor, and were highlighted by mucicarmine stain and immunohistochemical stains for CDX-2 and CK20, but not CK7. Results (if a Case Study enter NA) N/A Conclusion Collectively, the findings supported the diagnosis of endobronchial metastasis of signet-ring cell carcinoma from the lower gastrointestinal tract, i.e. the patient’s known appendiceal primary. Our case demonstrates a rare endobronchial metastasis of a primary neoplasm of the appendix, an important diagnostic consideration when evaluating respiratory distress in patients with such cancer histories. We have described the significant role of BAL cytology to uncover endobronchial metastases without lung masses by CT, and illustrated the finding of signet-ring cells mimicking macrophages in a BAL cytology specimen.

scholarly journals Urticarial vasculitis as an initial manifestation of colonic carcinoma: a case report and review of the literature

Reumatismo ◽  
2018 ◽  
Vol 70 (4) ◽  
pp. 259-263 ◽  
Author(s):  
A.A. Younis
Keyword(s):  
Case Report ◽  
Cell Carcinoma ◽  
Leukocytoclastic Vasculitis ◽  
Signet Ring Cell Carcinoma ◽  
Signet Ring Cell ◽  
High Dose ◽  
Urticarial Vasculitis ◽  
Carcinoma Of The Colon ◽  
Signet Ring ◽  
Ring Cell

Cutaneous vasculitis may behave as a paraneoplastic syndrome. Paraneoplastic vasculitis as a phenomenon of colonic adenocarcinoma has been described in the literature. To the best of my knowledge, this is the first case report of urticarial vasculitis being an initial presentation of signet-ring cell carcinoma of the colon. I here report a case of 27-year-old woman who had rash, arthritis, and episodic bleeding per rectum. The rash was biopsy-proven to be leukocytoclastic vasculitis. There was only partial response to high-dose steroid, and rectal bleeding continued. Colonoscopy revealed a stenosing growth of sigmoid colon, which proved to be signet ring cell carcinoma of the colon. It is important to remain vigilant with regard to the association between leukocytoclastic vasculitis and malignancies.

Sign in / Sign up

Export Citation Format

Share Document