Iris metastasis as a first manifestation of lung adenocarcinoma

Metástasis a iris como primera manifestación de adenocarcinoma pulmonar

PAINFUL FINGERS AND TOES REVEAL A CASE OF NON-SMALL CELL LUNG CANCER

Rationale:Metastasis of neoplasms to the eye is quite uncommon. In this case report, we describe a patient where primary esophageal cancer was diagnosed by fine needle aspiration biopsy (FNAB) of an iris tumor.Patient concerns:A 70-year-old male complained of redness and discomfort in the right eye.Diagnosis and interventions:The patient's right eye was diagnosed as idiopathic uveitis, and a topical steroid was administered. As vitreous opacities were observed even after topical therapy, oral prednisolone was administered. On slit-lamp examination of the right eye, an iris mass with neovascularization was seen in the anterior chamber. A metastatic tumor was suspected, and FNAB was performed. Histology revealed squamous cell carcinoma. Systemic workup revealed esophageal cancer with several metastases. Best-corrected visual acuity decreased to 20/400, and intraocular pressure was 40 mmHg in the right eye. Two iris tumors with neovascularization were present extending into the anterior chamber with posterior iris synechiae and 360 degree peripheral anterior synechiae. Intraocular pressure in the right eye was medically managed with hypotensive eye drops and oral acetazolamide. Iris metastases were treated with 40 Gray of radiation therapy and concurrent chemotherapy.Outcomes:The tumor regressed, but intraocular pressure was refractory to treatment because of 360 degree goniosynechial closure. The right eye lost light perception six months after treatment commenced, and the patient died 9 months after the onset of therapy due to multiple systemic metastases.Lessons:This is a rare case of masquerade syndrome without systemic symptoms in which FNAB of an iris tumor led to a diagnosis of metastatic esophageal squamous cell carcinoma. Although the patient lost his sight due to uncontrollable ocular hypertension, systemic chemotherapy, and radiation therapy were initially effective in the treatment of the metastatic iris tumor. As the prognosis of patients with metastatic iris tumors is poor, it is important for ophthalmologists to consider such diagnoses and conduct systemic investigations when necessary.

To report a case of recurrent bilateral combined branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) with paracentral acute middle maculopathy (PAMM) as the first manifestation of lung adenocarcinoma. A 54-year-old male with a history of inferonasal BRVO in the left eye (LE), was referred to our department for blurred vision in the LE. On examination, best-corrected visual acuity was 20/20 in the right eye (RE) and 20/25 in the LE. Fundus examination showed tortuosity and dilatation of the inferotemporal branch vein, cotton-wool spots, retinal hemorrhages, and areas of retinal whitening in both eyes corresponding to a BRVO associated with BRAO and PAMM. A few months later, the patient complained of blurred vision in the RE. Examination revealed a superior temporal BRVO and BRAO. An exhaustive work-up was performed. Results showed a high level of antiphospholipid antibodies. Chest scan showed the presence of a pulmonary mass related to lung adenocarcinoma. The patient underwent a surgical removal of the lung tumoral mass and chemotherapy. The level of antiphospholipid antibodies was back to normal and no recurrence of ocular symptoms was noted after a follow-up of one year. The association between retinal vascular occlusions and systemic carcinomas is rare. Malignant tumors may induce a hypercoagulation state and an increased risk of thromboembolic complications including branch retinal vascular occlusions.

BackgroundGastric cancer has a wide spectrum of clinical features, imaging manifestations, and pathology. Punctate calcifications in gastric cancer are infrequent but are usually found in mucinous adenocarcinoma. However, there have only been a few autopsy case reports describing the correlation between the radiology and pathology findings of calcified mucinous adenocarcinoma of the stomach. We present an autopsy case of mucinous gastric adenocarcinoma with iris metastases as the initial symptom.Case presentationA 74-year-old Japanese woman presented with blurred vision. Her treating ophthalmologist diagnosed acute iritis with secondary glaucoma. The histopathological and immunohistochemical features of a trabeculectomy specimen favored metastatic carcinoma, most likely of gastrointestinal tract origin. Esophagogastroduodenoscopy revealed multiple irregularly shaped ulcerative lesions, multiple erosions, and thickened folds in the corpus of her stomach. Histologic examination of a gastric tissue specimen obtained by endoscopic biopsy revealed poorly differentiated carcinoma with signet ring cell features. Computed tomography revealed a tumor with multiple punctate calcifications in the thickened gastric wall with diffuse low attenuation and multiple lymph node metastases, including the para-aortic lymph nodes, and peritoneal dissemination. She was diagnosed with stage IV gastric cancer (T4N3M1) and underwent seven cycles of 5-weekly TS-1, a novel oral fluoropyrimidine derivative, plus cisplatin therapy. Serial follow-up computed tomography revealed successive increases in the gastric wall calcifications. Her disease stabilized, but she died of aspiration pneumonia 8 months after the first visit. Autopsy tissue specimens had miliary, punctate calcifications present in abundant extracellular mucin pools in the submucosa, corresponding to the thickened low-attenuating middle layer on computed tomography. The final diagnosis was mucinous gastric adenocarcinoma because mucinous adenocarcinoma is diagnosed when more than half of the tumor area contains extracellular mucin pools.ConclusionsWe report the pathology and computed tomography imaging characteristics of a case of calcified mucinous adenocarcinoma of the stomach metastatic to the iris, including findings at autopsy. Metastatic carcinomas in the iris originating in the stomach are exceedingly rare. Multiple punctate calcifications were present in pools of extracellular mucin, a diagnostic clue for mucinous adenocarcinoma. Possible mechanisms underlying scattered punctuate calcifications in gastric mucinous adenocarcinoma warrant further investigation.

Aberrant Stratifin Overexpression Is Regulated by Tumor-Associated CpG Demethylation in Lung Adenocarcinoma

e20053 Background: Immune repertoire (IR) is the collection of functionally diverse T and B cells in an individual's circulatory repertoire at a particular time. The CDR3 is the main variation region of the CDR of T cell receptors (TCRs), which directly determines the antigen specificity of the receptor. The purpose of this study was to investigate the differences in TCRs between tumor patients and healthy people by using NGS sequencing of the CDR3 region of the human TRB. Shannon indices and Simpson indices were used to evaluate the TCR richness and evenness. Methods: From 2018 to 2022, a total of 537 cases of lung adenocarcinoma and 85 cases of healthy individual PBMC in China were collected. We identified 59 V and 14 J genes in the TRB CDR3 region by amplicon sequencing, and analyzed the differences between Shannon_index and simpson index. Results: TCR diversity were significantly higher in healthy people compared to lung adenocarcinoma patients as determined by Shannon index analysis ( P = 0.006), and the uniformity of TCRs in the latter group was lower (Simpson index 0.997 and 0.992 for controls and cases, respectively). For different age groups of lung cancer patients (age 20-44, n = 66; age 45-59, n = 205; age 60-74, n = 221; age 75-90, n = 45), the overall abundance and uniformity of T cells in lung cancer patients decreased with the increase of age (Shannon index: 7.91, 7.63, 7.38, 6.99, respectively. Simpson Index: 0.996, 0.994, 0.991, 0.986 respectively). The downward trend in the Shannon index between healthy individuals and lung adenocarcinoma patients exhibit a high correlation (spearman r = 1, P < 0.01), indicating that age rather than cancer may be the main factor in immune decline in patients with lung adenocarcinoma. In terms of gender, the abundance and uniformity of T cell types in male patients were lower than that in female patients (male: Shannon index = 7.36, Simpson index = 0.991; Female: Shannon index = 7.61, Simpson index = 0.994), suggesting higher levels of immunity in the female patients. Conclusions: The Shannon index (immune diversity) in TCR sequencing was significantly different between lung adenocarcinoma patients and healthy individuals. In patients with lung adenocarcinoma, immunity declines more due to aging than the cancer itself. TCR diversity was lower in male lung adenocarcinoma patients than in female patients. In conclusion, Shannon index (immune diversity) in TCR sequencing can be used as a predictor of lung adenocarcinoma.

To the Editor: Synchronous lymphoma and lung cancer is uncommon. Reported cases were diagnosed by surgical specimens from the lungs and/or lymph nodes. This is the first reported case of a synchronic diagnosis of Mantle cell lymphoma and lung adenocarcinoma made by endobronchial ultrasound guidance transbronchial needle aspiration (EBUS-TBNA) sampling and cytology processing. A 61-year-old man, former smoker, asymptomatic, recently diagnosed Mantle cell lymphoma (not on treatment) presented for evaluation of an incidentally found lung nodule. Positron emission tomography-computed tomography imaging showed a 2.8×3 cm speculated lung nodule in the right upper lobe suggestive of a primary lung cancer, as well as a 1.8 cm lower right paratracheal lymph node. Both were fluorodeoxyglucose (FDG) avid with standardized uptake value maximum of 14.7 and 15.1, respectively (Fig. 1). Patient underwent bronchoscopy with EBUS-TBNA for staging with the specimens sent for cytology and flow cytometry evaluation. The cytology specimen taken from the lower right paratracheal lymph node was positive for both metastatic adenocarcinoma and Mantle cell B cell non-Hodgkin lymphoma (NHL) (Fig. 2). The patient received treatment for both primary tumors.FIGURE 1: PET-CT scan (transverse section) showing FDG uptake in lung nodule and lower right paratracheal lymph node. FDG indicates fluorodeoxyglucose; PET-CT, positron emission tomography-computed tomography.FIGURE 2: Adenocarcinoma CK7 positive cells and B lymphocyte CK20 positive cells on same cytology specimen.Mantle cell lymphoma is one type of mature B cell NHL constituting about 7% of adult NHL in the United States and Europe1 and has a median survival of 9 years. Most patients have advanced stage disease by the time they are diagnosed (70%). Although around 75% of patients initially present with lymphadenopathy. Lung adenocarcinoma is the most common form of lung cancers consisting 40% of all lung cancers in the United States. Most cases of adenocarcinoma are strongly associated with smoking, usually peripherally located originating from the “goblet cells” which are the mucus producing glands of the lung with a high tendency for early metastasis. Previous case reports have shown synchronous primary tumors (lymphoma and carcinoma) originating at the lungs, requiring surgical biopsies to clarify diagnosis. Examples are synchronous pulmonary adenocarcinoma and mucosa-associated lymphoid tissue seen in the same specimen diagnosed after superior lobectomy2; and a case of synchronous lung adenocarcinoma and pleural mucosa-associated lymphoid tissue3 diagnosed after surgical bullectomy and pleurectomy. Fine needle aspiration technique (either transthoracic or EBUS-guided TBNA), includes the use of 19 to 23-G needle. These samples can be processed as histologic or cytologic specimens, as well as for evaluation by flow cytometry. Studies proved that morphology alone is not enough for accurate diagnosis of NHL as different types may have similar morphology yet different cells of origin emphasizing the importance of combined cytology and flow cytometry as the mainstay for diagnosis with a sensitivity ranging 75% to 99% and a specificity ranging 87% to 100%.4 EBUS-TBNA sampling has a sensitivity of 84% to 88% in the diagnosis of lymphoma.5 As opposed to the conventional method of sampling for the diagnosis of NHL usually performed by surgical resection of tissue specimen via excisional biopsy, our case is the first reported case with EBUS-TBNA (as per our knowledge) illustrating the diagnosis of both metastatic adenocarcinoma from a primary lung cancer and mantle cell lymphoma from the same lymph node specimen processed by cytology only. Synchronic diagnosis of lung adenocarcinoma and Mantel cell lymphoma (NHL) can be made with EBUS-TBNA sampling and cytology processing. George Samuel, MD* Michael Simoff, MD*† Said Chaabaan, MD*† Javier Diaz-Mendoza, MD*†*Henry Ford Hospital†Wayne State University School of Medicine Detroit, MI

Introduction Iris/ciliary body tumors can broadly be classified as benign or malignant, cystic or solid, and melanocytic or non-melanocytic. This study aims to provide a systematic review of anterior segment optical coherence tomography (AS-OCT) findings in iris and ciliary body tumors. Methods We conducted a search of published articles related to the use of AS-OCT in iris/ciliary body tumors as of December 2022. Databases that were searched included PubMed, Scopus, and Web of Science. The following search terms in various combinations were used: ‘anterior segment optical coherence tomography,’ ‘ciliary body melanoma,’ ‘ciliary body nevus,’ ‘ciliary body tumor,’ ‘iris cyst,’ ‘iris melanoma,’ ‘iris nevus,’ ‘iris tumor,’ and ‘metastasis.’ Results A total of 41 studies (10 original articles and 31 case reports) met the inclusion criteria. AS-OCT data pertaining to 545 iris/ciliary body lesions could be retrieved. Conclusion AS-OCT has proved to be useful as a noninvasive tool for the diagnosis of solid tumors involving the iris/angle with no marked ciliary body involvement, iris pigment epithelial, and iris stromal cysts. To the best of our knowledge, this is the first systematic review in the literature evaluating the utility of AS-OCT in iris/ciliary body tumors.

Breast cancer and lung cancer are the most common tumors that metastasize to iris. The metastasis of iris was generally diagnosed on ophthalmologic examination. In this case, we reported iris metastasis of patients with adenocarcinoma of breast cancer and MRI findings. We report a case of a 51-year-old. She was diagnosed breast cancer two years ago. After adjuvant chemotherapy, radiotherapy and trastuzumab, she was admitted to hospital with the complaints of headache on February 2012. The magnetic resonance imaging (MRI ) revealed multiple brain metastasis. Whole brain radiotherapy and palliative chemotherapy were applied to the patients. In follow-up, on ophthalmological examination, there was a solid lesion on iris. The orbital MRI was performed and it revealed the thickness on iris of left eye. After diagnostic procedure final pathological rewiev reported that invasive ductal carcinom metastasis. Iris metastasis may be considered by MRI findings following: The thickness on iris and contrast enhanced lesion. This reason may be resulted that the fine niddle aspiration biopsy for diagnosis of iris metastasis is not need.

Unusual iris metastasis from anal cancer: A case report

Adenocarcinoma with multiple metastases imitating neurocysticercosis and pulmonary tuberculosis

We report a rare case of incidental metastatic lung adenocarcinoma, which was discovered delayed with histological examination of tissues derived from the hip received a total hip arthroplasty (THA) because of primary osteoarthritis of the hip in a 54-year-old male patient. The histological examination of the hip joint capsule during the primary operation failed to disclose any malignacy and 6 months postoperatively extensive osteolysis around the femoral component of the THA as well as metastases in the lung were radiologically evident. Bone biopsy at that stage showed adenocarcinoma of the lung. This case emphasizes the importance of a meticulous history, and complete medical examination before surgery in order to avoid such a disastrous event. In suspected cases history should be followed by detailed histological examination of the excised joint capsule and bone during prosthesis implantation for primary diagnosis of the disease.

Lung adenocarcinoma with metastasis to the uterine cervix is rare, as is ureteral obstruction attributed to metastasis from lung adenocarcinoma. We report a case of lung adenocarcinoma with metastases to both the uterine cervix and retroperitoneal lymph nodes resulting in obstructive uropathy. We used immunohistochemical staining, the epidermal growth factor receptor gene and the clinical course to differentiate lung adenocarcinoma from cervical adenocarcinoma. An excellent response was achieved with first-line gefitinib treatment for 3 months-both the hydronephrosis and the metastatic cervical tumor had almost disappeared. This is the first case report of metastatic retroperitoneal lymphadenopathy with ureteral obstruction resulting from lung adenocarcinoma treated effectively and safely with gefitinib.

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) mutation has a prevalence of approximately 2% in lung adenocarcinoma. However, cases presenting a PIK3CA mutation alone have rarely been reported, and the clinical significance of a single PIK3CA mutation has not been well discussed. We present 2 similar lung adenocarcinoma cases with a single PIK3CA alteration initially but were found to have a concurrent epidermal growth factor receptor (EGFR) mutation by another genotyping afterward. Both cases experienced an excellent partial response after combination therapy of EGFR tyrosine kinase inhibitor (EGFR-TKI) and angiogenesis inhibitor, which implies that the initial absence of EGFR mutation was a false negative. A single-center retrospective study among 2,214 cases of lung adenocarcinoma regarding their genotyping was conducted. We found that the prevalence of PIK3CA mutation in lung adenocarcinoma was 1.7%, 86.5% of which had other co-existing mutations, with EGFR mutation being the most common. PIK3CA mutation tends to be concurrent with other mutations in lung adenocarcinoma. Physicians should suspect a potential false-negative driver mutation and promptly repeat genotyping when a single PIK3CA mutation is reported in the genotyping of lung adenocarcinoma. Furthermore, physicians should consider agents targeting the driver mutation rather than agents targeting the phosphatidylinositol 3-kinase(PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway for treatment.