Dataset Information

Poorly differentiated adenocarcinoma of the jejunum in a patient with Peutz-Jeghers syndrome: A case report.

ABSTRACT:

Introduction and importance

Despite being the longest and containing a greater proportion of the gastrointestinal tract's mucosal surface area, the small bowel is where <2 % to 5 % of gastrointestinal cancers can occur. Peutz-Jeghers syndrome is the rarest risk factor for the development of small intestinal cancers. Here we report a case of perforated poorly differentiated adenocarcinoma of the jejunum for which Peutz-Jeghers syndrome is identified.

Case presentation

A 25-year-old male patient presented to the emergency department with generalized peritonitis caused by a perforated jejunal mass. The patient underwent an emergency exploratory laparotomy. There was 800 ml of thin pus in the peritoneal cavity and 5 cm by 6 cm perforated mass over the jejunum which extends to the mesentery. Palpable intraluminal polyps with an inverted serosal surface for some of them were identified. The pus was sucked out, and the mass was resected with its mesenteric lymph nodes and segments containing polyps. Subsequently, end-to-end hand-sewn anastomosis was performed, and the abdomen was closed. The histopathology report showed poorly differentiated adenocarcinoma, stage IIIC (PT3, PN2), and Peutz-Jeghers polyps, suggesting Peutz-Jeghers syndrome.

Clinical discussion

Even though small bowel malignancy is a rare entity, early detection is a challenging issue, especially when it happens below the ligaments of the trietz. Surgical resection offers the only potential cure for small bowel malignancy.

Conclusion

We conclude that patients with long-term, nonspecific abdominal complaints are good candidates for evaluation and investigation without overlooking small bowel malignancy. Peutz-Jeghers syndrome was a potential risk factor in our case.

SUBMITTER: Miresa F

PROVIDER: S-EPMC10945191 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature

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Publications

Poorly differentiated adenocarcinoma of the jejunum in a patient with Peutz-Jeghers syndrome: A case report.

Miresa Fufa F Beyene Badhaasaa B Abdulhadi Munewor M Mohamud Abdulaziz A Belachew Anteneh A

International journal of surgery case reports 20240311

<h4>Introduction and importance</h4>Despite being the longest and containing a greater proportion of the gastrointestinal tract's mucosal surface area, the small bowel is where <2 % to 5 % of gastrointestinal cancers can occur. Peutz-Jeghers syndrome is the rarest risk factor for the development of small intestinal cancers. Here we report a case of perforated poorly differentiated adenocarcinoma of the jejunum for which Peutz-Jeghers syndrome is identified.<h4>Case presentation</h4>A 25-year-old ...[more]

PMID: 38471213

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Project description:RationalePeutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder, is characterized by mucocutaneous pigmentations, hamartomatous polyps in the gastrointestinal tract, and a high risk of developing various malignancies. To the best of our knowledge, only 1 case of appendiceal carcinoid associated with PJS has been previously reported in the pediatric population.Patient concernsWe report a 7-year-old girl who was admitted for severe, intermittent abdominal pain and cramps, nausea, and vomiting. Multiple brown melanotic macules on the lips, buccal mucosa, and the tongue were noted.DiagnosisA plain abdominal X-ray in a standing position revealed dilated intestinal loops with multiple air-fluid levels. A computed tomography scan of the abdomen showing a "coffee bean" appearance of the jejunal loop with a transition point to the duodenal loop. Axial-contrast-enhanced computed tomography scan of the abdomen showing dilated jejunum loops, filled with fluid with the swirled appearance of mesentery typical for volvulus. The diagnosis of PJS was based on clinical findings along with the histopathologic confirmation of the hamartomatous polyps.InterventionsAn emergency laparotomy was performed, revealing a jejunojejunal intussusception starting 40 cm from the duodenojejunal flexure. Jejunotomy revealed that a lead-point intussusception was a necrotic hamartomatous polyp. After resecting the involved jejunal necrotic segment, including the polyp, end-to-end jejuno-jejunal anastomosis was performed. Further exploration revealed the presence of a jejunal mass 80 cm from the duodenojejunal flexure identified as another hamartomatous pedunculated polyp. The polyp was resected, and the enterotomy was then closed transversely. The grossly normal appendix was also removed.OutcomesClinical findings along with the histopathologically confirmed hamartomatous polyps were consistent with PJS. An appendiceal carcinoid (well-differentiated neuroendocrine tumor, European Neuroendocrine Tumor Society stage pT2) was incidentally detected during histological examination of the appendix. The patient and parents were counseled accordingly, focusing on active surveillance and control of symptoms. Two additional hamartomatous polyps (gastric and jejunal) were detected endoscopically and resected in the fourth postoperative week. A regular, 1-year follow-up and surveillance revealed no complications or recurrences.LessonsUnusual neoplasms can occasionally be encountered in well-defined syndromes such as PJS. Therefore, active follow-up and surveillance are mandatory for all patients with PJS.

Project description:BackgroundLobular endocervical glandular hyperplasia (LEGH) is a benign cervical condition that has been proposed as a precursor lesion to minimal deviation adenocarcinoma (MDA), a rare but highly aggressive subtype of well-differentiated gastric-type endocervical adenocarcinoma (GAS). MDA is more frequently observed in patients with Peutz-Jeghers syndrome (PJS) and is strongly associated with mutations in the STK11 gene. While LEGH is not inherently linked to PJS, its potential progression to MDA warrants vigilance, particularly in patients with PJS due to their heightened risk of gynecologic malignancies. Here, we report a case of LEGH diagnosed during surveillance for PJS, analyzed via whole genome sequencing. LEGH is a benign cervical condition, considered a precursor lesion to minimal deviation adenocarcinoma, often observed in patients with Peutz-Jeghers syndrome (PJS) and potentially linked to mutations in the STK11 gene.CaseA 23-year-old woman, diagnosed with PJS at age 11, was referred to a gynecologist after a cystic lesion was detected in the cervix during a follow-up computed tomography scan. Initial examinations, including imaging and colposcopy, did not indicate LEGH or a malignant tumor. Imaging alone is insufficient to exclude premalignant or malignant conditions, as abnormal cervical lesions often require biopsy for a definitive diagnosis. However, cervical cytology showed nuclear atypia was minimal, but some clusters exhibited disordered alignment, and the cytoplasm contained yellowish mucus suggestive of LEGH. Based on these findings, cytology follow-up was planned. However, the patient did not return for further follow-up. After one year and five months, the patient presented with increased mucous vaginal discharge. Cervical cytology indicated atypical glandular cells, and magnetic resonance imaging with contrast enhancement revealed an enlarged cervical lesion, suggesting minimal deviation adenocarcinoma. We performed cervical conization, and a histopathological examination helped confirm LEGH. High-throughput next-generation sequencing of the excised cervical tissue revealed a missense mutation in the serine/threonine kinase 11 (STK11) gene on chromosome 19 (c.1062C > G) and three missense mutations in STK11 interacting protein (STK11IP) on chromosome 2 (c.2G > T, c.1687G > A, c.2255C > T). Mutations in STK11, particularly those affecting its regulatory domains, may significantly increase cancer risk in patients with PJS, and that STK11IP plays a crucial role in modulating STK11 activity. The patient, seeking to preserve fertility, has been monitored for five years post-surgery without evidence of malignant transformation. Continuous monitoring with periodic imaging and cytological assessments has shown no evidence of malignant transformation. The absence of elevated tumor markers further supports the conservative approach. While there are no tumor markers specific to cervical cancer, carcinoembryonic antigen (CEA), cancer antigen 125 (CA125), and carbohydrate antigen 19-9 (CA19-9) were measured as part of the screening process in this case.ConclusionWe conclude that whole genome sequencing in patients with PJS and LEGH could be pivotal in predicting cervical malignancy. This case emphasizes the utility of whole genome sequencing in predicting the risk of cervical malignancy in patients with PJS and LEGH and highlighting the critical role of genetic factors in the management and surveillance of these patients. Continuous monitoring post-surgery showed no evidence of malignant transformation, supporting a conservative approach in fertility-preserving treatment scenarios.

Project description:BackgroudPeutz-Jegers syndrome (PJS) is an autosomal dominant hereditary disorder characterized by hamartomatous polyposis of the entire gastrointestinal tract. Fibrinogen (Fbg) is synthesized by the liver, and hypofibrinogenemia is often asymptomatic and manifests with bleeding after trauma or invasive surgical procedures. Here, we present a case of a pediatric patient with PJS and hypofibrinogenemia who manifested with gastrointestinal bleeding after endoscopic mucosal resection (EMR) of small intestinal polyps.Case presentationAn 11-year-old boy with PJS was referred to our hospital. Since his mother was diagnosed with PJS, with black pigments being observed on his lips, mouth, and limbs, he underwent upper and lower gastrointestinal endoscopy at the age of 8 years at a previous hospital. EMR for duodenal polyp was performed, and the pathological findings were consistent with hamartoma. His Fbg level was 117 mg/dl at the time, with no post-bleeding being detected after EMR. The small intestine was not assessed at the prior facility and was left neglected for three years. At our hospital, small intestine fluoroscopy was performed and revealed a polyp in the jejunum, and abdominal computed tomography showed two polyps and intussusception. On double-balloon enteroscopy, the resected polyps were hamartoma with diameters of 20 and 30 mm. The patient's Fbg level was 107 mg/dl. The day after EMR, he had melena and black stools. He was diagnosed with post-EMR bleeding and started to stop eating, and hemostatic agents were given. His hemoglobin level dropped to 9.2 g/dl the next day. Genetic testing for congenital Fbg deficiency revealed a heterozygous pathogenic variant in fibrinogen gamma chain Exon 10. Therefore, he was diagnosed with concurrent hypofibrinogenemia and PJS.ConclusionTo the best of our knowledge, this is the first reported case with concurrent PJS and hypofibrinogenemia. In patients with PJS, hypofibrinogenemia should be considered as one of the risk factors of postoperative bleeding during polypectomy, and appropriate prophylactic measures should be taken.

Project description:Peutz-Jeghers syndrome (PJS) is characterized by an increased risk of gynecologic tumors. Gastric-type endocervical adenocarcinoma (GEA) is a rare non-human papillomavirus (HPV)-related tumor. We reported an uncommon case of a 39-year-old woman with PJS who developed GEA, superficial cervical vaginal myofibroblastoma, sex cord-stromal tumors with annular tubules of the ovaries, and cervical and vaginal high-grade squamous interepithelial neoplasia (HSIL). Before being verified GEA, the patient had been experiencing suspicious symptoms for over 9 years, with nabothian cysts and vaginitis being misdiagnosed. HSIL displayed widespread p16 immunostaining, and HPV DNA screening confirmed HPV-18 infection, although GEA was negative. Further, we verified TP53 mutation and HER2 amplification of GEA by fluorescence in situ hybridization (FISH). TP53 was the most commonly mutated gene. The therapy with the anti-HER2 antibody trastuzumab was suggested based on HER2 amplification. We also analyzed the somatic mutations of GEA by whole genome sequencing (WES). There were 157 single nucleotide variations (SNVs) and 215 indels, with all of them being heterozygotes. Nonsynonymous and frameshift insertions were the most common kinds of mutations. The germine STK11 gene mutation was found, which may play an important role in tumor development. According to gene function enrichment analyses, the genomic changes primarily implicated general transcription or expression pathways and cell cycle pathways. In addition, the JAK2/STAT3 pathway could be a major focus of targeted therapy for GEA patients with PJS. Our findings show that the patient with PJS can have a variety of unusual gynecologic tumors. Patients with PJS must have routine gynecological, ultrasonographic, and cytological examinations to detect precursor or early-stage lesions. The patient's abnormal symptoms must be treated early with caution. A comprehensive genomic study reveals the potential causative genetic factors, therapeutic targets, and chemotherapy resistance of GEA. Further research will focus on the main driving genes, molecular mechanisms, and molecular target therapy in more patients.

Dataset Information

Poorly differentiated adenocarcinoma of the jejunum in a patient with Peutz-Jeghers syndrome: A case report.

Introduction and importance

Case presentation

Clinical discussion

Conclusion

Publications

Poorly differentiated adenocarcinoma of the jejunum in a patient with Peutz-Jeghers syndrome: A case report.

Similar Datasets

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