Large Cell Neuroendocrine Carcinoma of the Gallbladder: Where Survival Is a Rare Entity – Case Report and Review of the Literature
Ontology highlight
ABSTRACT:
SUBMITTER: Dhruv S
PROVIDER: S-EPMC10653706 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:To improve the understanding, diagnosis and treatment of bladder large cell neuroendocrine carcinoma (LCNEC). A clinical case of bladder LCNEC admitted to our hospital was reported. The epidemiology, prognosis, diagnosis and treatment methods of large cell neuroendocrine carcinoma were reviewed. The diagnosis and treatment status and prognosis were discussed based on the literature. The female patient was admitted to hospital for "more than 4 years after TURBT and intermittent hematuria for more than 2 years". She was diagnosed as recurrent bladder cancer and underwent "radical cystotomy + hysterectomy". The postoperative pathological findings were high-grade urothelial carcinoma of the bladder neck and large cell neuroendocrine carcinoma of the bladder. The patient recovered well after surgery, but refused radiotherapy and chemotherapy and is still under close follow-up. Bladder LCNEC is clinically rare, has unique pathological features, is more aggressive than traditional urothelial carcinoma, and has a poor prognosis. Surgery, chemotherapy and radiotherapy should be combined with multi-mode treatment.
| S-EPMC11327133 | biostudies-literature
Project description:BackgroundThe large cell neuroendocrine carcinoma (LCNEC) of the urinary bladder is a rare malignancy. With its high aggressiveness and poor prognosis, the disease is often accompanied by metastasis or recurrence. The lack of specific clinical manifestations and imaging features causes considerable challenges for clinical diagnosis and treatment.Case presentationWe report a case of LCNEC of the urinary bladder. The patient was a 79-year-old male admitted to our hospital with recurrent episodes of asymptomatic gross hematuria. Based on the computed tomography (CT) scan findings, our patient presented with a bladder mass displaying invasion into the serosal layer, suggestive of muscle involvement and indicative of malignancy. The patient received a radical cystectomy, and the postoperative pathology confirmed primary, pure LCNEC of the urinary bladder. We gave him 16 cycles of toripalimab immunotherapy. As of follow-up, the patient was alive, and periodic CT reexamination showed no evidence of recurrence.ConclusionsWe reviewed domestic and foreign literature and found no explicit treatment protocols exist for the disease. Surgical resection combined with chemotherapy were the most common treatments. Herein, we reported the first case of primary, pure LCNEC of the urinary bladder treated by radical cystectomy combined with pure immunotherapy, achieving sustained remission, which provides a new idea for the immunotherapy and integrative treatment of the disease.
| S-EPMC10961446 | biostudies-literature
Project description:BackgroundCases of both of small- (SCLC) and large-cell neuroendocrine lung carcinoma (LCNEC) were rarely reported. Although typical cases are morphologically distinct, the distinction between LCNEC and SCLC is still controversial, with some LCNECs showing close morphologies with SCLC. Here, we reported on a patient who had tumor with a mix of SCLC and LCNEC and uncovered these components' histological and genomic features.Case presentationA 59-year-old man was diagnosed with lung cancer and had resection surgery in our hospital. The H&E and immunohistochemistry staining revealed that the tumor had 30%-35% LCNEC and 65%-70% SCLC cells. The whole-exome sequencing (WES) identified no potentially actionable alteration in the tumor sample but found five alterations all with allele frequency over 90%, including TP53 p.R273H, MYH8 p.Q1814K, SLC17A6 p.W505L, PTPN5 p.M40I, and RB1 p.L267X. The genomic results supported that these two different components shared a similar dominant clonal origin. Furthermore, fluorescence in situ hybridization analysis revealed that the LCNECs have a higher copy number of MET than the SCLC component while without notable difference in the copy number of HER2 and TP53. Chemotherapy with pemetrexed and carboplatin was administrated for two cycles after the surgery. Although the chest CT showed remission in the lung, he was diagnosed with bone metastasis in 1 year later. Then, he received chemotherapy with etoposide and carboplatin but had severe side effect, leading to the discontinuation of the regime. Unfortunately, he returned to the local hospital with supportive care and died shortly after.ConclusionBased on these observations, we proposed that LCNEC and SCLC components in this patient may have a common clonal origin with dual mutations in TP53 and RB1, while the chromosome instability may cause multiple independent conversion that leads to LCNEC or SCLC morphologies.
| S-EPMC8804208 | biostudies-literature
Project description:Mucoepidermoid carcinoma is one of the most common malignant tumors in salivary glands and is usually associated with mastermind-like transcriptional coactivator 2 (MAML2) rearrangement. Primary nasopharyngeal mucoepidermoid carcinoma is extremely rare, and MAML2 status was reported in only two studies. Herein, we present a 70-year-old male patient with incidentally found nasopharyngeal mucoepidermoid carcinoma. MAML2 translocation was detected by fluorescence in situ hybridization test. Additionally, we conducted a comprehensive literature review and summarized the clinicopathological features of this rare condition. Nasopharyngeal mucoepidermoid carcinoma shows a similar mean age at diagnosis and gender ratio to those of mucoepidermoid carcinoma in salivary glands. More than half of the patients exhibit high histologic grade at the time of diagnosis. As MAML2 status is unreported in almost all published cases, further studies are needed to explore the incidence and prognostic value of MAML2 rearrangement in nasopharyngeal mucoepidermoid carcinoma.
| S-EPMC11457284 | biostudies-literature
Project description:Introductioncutaneous adenoid cystic carcinoma is a rare epithelial tumor with slow development, it is most often described in the scalp; palpebral involvement is very rare. And is accompanied by local aggressiveness and frequent recurrence. The aim of this work is to discuss the management and the interest of a close surveillance of adenoid cystic carcinoma.Case presentationThe authors report a case of palpebral cystic adenoid carcinoma in a 65-year-old patient who underwent surgical excision followed by reconstruction of the loss of substance.DiscussionCutaneous cystic adenoid carcinoma of the eyelids remains a very rare entity that must be evoked in front of a nodular cutaneous palpebral tumor that progresses slowly. An early diagnosis and a complete excision guarantee a better prognosis.ConclusionAdenoid cystic carcinoma, because of its local aggressiveness and its capacity to recur despite satisfactory surgical removal, requires long-term surveillance. Its surgery may be responsible for functional and aesthetic sequelae.
| S-EPMC8209184 | biostudies-literature
Project description:Introductionprimary neuroendocrine cancer of the breast (NECB) is a very rare entity, comprising less than 0,1% of all breast tumors. It was first reported in 1977 by cubilla et al.Case presentationwe report the case of a 60-year-old rural Syrian female who admitted to our hospital due to a painless lump in her right breast. Radiological & clinical findings were highly indicative of breast carcinoma. Therefore, a partial biopsy was performed and microscopic examination suggested the diagnosis of neuroendocrine carcinoma of the breast, which was confirmed by immunohistochemical staining. Lab findings were also indicative for anemia & thrombocytosis.Clinical discussionneuroendocrine tumors are usually seen in the intestine & lungs. However, their presence as primary tumors in the breast is extremely rare.Conclusionour article demonstrates a challenging case of primary neuroendocrine breast carcinoma with paraneoplastic thrombocytosis, which clarifies the major diagnostic & therapeutic approaches used in its management.
| S-EPMC9142635 | biostudies-literature
Project description:BackgroundPatients presenting with large cell neuroendocrine carcinomas (LCNECs) comprise a small minority of total colon and rectal cancers (1-2%) with poor prognostic outcomes in lieu of late diagnosis and metastasis at the point of diagnosis.Case descriptionWe report a case presentation of a 69-year-old male presenting with diffuse, non-severe upper abdominal pain and a positive at-home colon cancer screening test. At the time of presentation, the patient was negative for constipation or blood in stool. The patient underwent a colonoscopy with biopsy results positive for LCNEC within the proximal ascending colon. A right hemicolectomy was performed with subsequent pathology indicating a poorly differentiated LCNEC with 4/18 positive nodes and final pathology showing stage IIIA (T3, N1, M0) with Ki-67 index at 70%. Post-operative intervention included two cycles of carboplatin and etoposide as well as routine follow-up for labs, imaging, and pharmacological management.ConclusionsLCNECs are highly aggressive with poor prognostic outcomes and high mortality rates on both 1- and 5-year survival scales. Prior studies and reports indicated a need for further research and data investigating treatment standardization for patients diagnosed with LCNECs. In lieu of this, this study provides a potential standardized treatment modality combining both European Neuroendocrine Tumor Society (ENETS) and North American Neuroendocrine Tumor Society (NANETS) consensus guidelines.
| S-EPMC10932652 | biostudies-literature
Project description:Pulmonary large cell neuroendocrine carcinoma (LCNEC), which accounts for approximately 1% of all lung cancers, is a rare and highly aggressive malignancy with a poor prognosis. Therefore, it is important to devise an effective treatment strategy. In the treatment of locally advanced complex LCNEC, it is unique to first administer radiotherapy combined with albumin-bound paclitaxel plus carboplatin, followed by durvalumab for immune maintenance treatment after concurrent radiotherapy and chemotherapy to achieve complete remission. We report a 54-year-old man who smoked and who felt chest tightness for 2 weeks and was diagnosed as having combined pulmonary LCNEC. For patients with locally advanced pulmonary LCNEC, chemoradiotherapy increases overall survival. After surgical resection and chemoradiotherapy, our patient achieved complete remission. Durvalumab was then started to consolidate the treatment. After six courses of immune maintenance therapy, the patient developed grade 2 immune-related pneumonitis and took prednisone orally until the symptoms resolved, and then reached complete remission again. The patient achieved complete remission, which was a challenge with this rare carcinoma, through albumin-bound paclitaxel plus platinum-based chemotherapy combined with radiotherapy and durvalumab for immune maintenance therapy. This approach may provide a treatment option for locally advanced combined pulmonary LCNEC.
| S-EPMC8573517 | biostudies-literature
Project description:BackgroundLung large cell neuroendocrine carcinoma (L-LCNEC) is a subtype of lung cancer with a low incidence and a high degree of malignancy. For early stage patients, surgical treatment is limited, and the risk of postoperative recurrence is high. For patients with unresectable or advanced disease, platinum-based chemotherapy is currently the mainstay of treatment, but its efficacy is unsatisfactory. L-LCNEC with the anaplastic lymphoma kinase (ALK) gene mutation is very rare and currently has no standard therapy. In this article, we report the case of a locally advanced L-LCNEC patient with ALK mutations who underwent first-line treatment with alectinib.Case descriptionA previously healthy, 46-year-old, non-smoking woman was clinically diagnosed with unresectable locally advanced L-LCNEC. Next generation sequencing (NGS) of the patient's plasma and tumor specimen showed echinoderm microtubule-associated protein-like 4 (EML-4) (exon 13)-ALK (exon 20) fusion with a mutation frequency of 14.48% and 15.37%. The patient refused chemotherapy, and received first-line treatment with alectinib 600 mg, bis in die (bid), per day. After taking alectinib for 1 month, the patient's chest enhanced computed tomography (CT) scan showed a partial response (PR). After 12 months of treatment with alectinib, a radiological evaluation showed that the patient had maintained the PR. A grade 2-3 rash was observed at the beginning of the treatment. After symptomatic treatment, the rash disappeared, and the side effects were fully tolerated. At present, the patient can work normally, has a performance status of 0 and has not experience any major adverse events.ConclusionsOur case suggests that the first-line use of targeted therapy is also a good choice for L-LCNEC patients of stage III with gene mutations. The side effects are light, the patient can tolerate well, and the quality of life of can be improved.
| S-EPMC9929752 | biostudies-literature
Project description:BackgroundGallbladder torsion is very rare and easily misdiagnosed as biliary disease. It is defined as the rotation of the gallbladder along the axis of the cystic pedicle on the mesentery. As gallbladder rotation involves the gallbladder artery, the blood supply is blocked, resulting in gallbladder ischemia and eventual necrosis. If misdiagnosis occurs and treatment is delayed, gallbladder torsion can develop into a lethal disease. The typical imaging features of gallbladder torsion in this case are a good learning resource for our young physicians, as well as providing a rare, unusual and typical case for our current literature database.Case descriptionWe present a rare case of gallbladder torsion in a 19-year-old man. The patient complained of sudden recurrent pain and discomfort in the right upper abdomen with vomiting for 12 hours. Abdominal ultrasound and computed tomography (CT) scan showed gallbladder enlargement and signs of acute cholecystitis in emergency examination, and there were no signs of cholecystolithiasis. Considering that the patient was a young male and the patients prefer conservative treatment, symptomatic treatment was given. However, there was no obvious effect after 1 day of medical treatment, but severe abdominal pain in the upper right quadrant continues to progress. Finally, the patient underwent laparoscopic cholecystectomy, and the gallbladder was found to be enlarged with ischemic necrosis, which was caused by gallbladder torsion. The patient recovered 2 days after surgery and was discharged without complications.ConclusionsAlthough the clinical manifestation is similar to that of typical acute calculous cholecystitis, gallbladder torsion can be diagnosed early through some special signs on imaging examination, such as distorted cystic duct signs ("beak and whirl" sign), gallbladder dilatation with gallbladder fossa effusion, and gallbladder in the horizontal position. These signs can help primary surgical treatment and prevent fatal complications such as gallbladder gangrene, perforation, and biliary peritonitis. Therefore, for inexperienced doctors, careful imaging features are required for the correct diagnosis of rare gallbladder torsion.KeywordsGallbladder torsion; acute abdominal disease; cholecystitis; case report.
| S-EPMC9201152 | biostudies-literature