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Human Pathology Jun 2024Appendiceal mucinous neoplasms feature neoplastic mucinous epithelium with pushing borders and densely fibrotic walls. We have identified five examples of analogous...
AIMS
Appendiceal mucinous neoplasms feature neoplastic mucinous epithelium with pushing borders and densely fibrotic walls. We have identified five examples of analogous colorectal tumours.
METHODS AND RESULTS
Slides, pathology reports, and clinical data were reviewed. Whole genome sequencing was performed in two cases. Three were women and the mean age was 70. Associated GI conditions included Crohn's disease [1], diverticulosis [2], and sarcoma of the terminal ileum [1]. Signs/symptoms included obstruction [2], nausea, vomiting, abdominal pain [1], and positive faecal immunohistochemical test [1]. Colonoscopic findings included narrowing [1], "fullness" [1], and caecal lesion concerning for GIST [1]. Tumours involved the rectosigmoid [2], sigmoid [1], transverse colon [1], and cecum [1] and ranged from 1.5 cm to 8.5 cm. All but one tumour arose in the setting of faecal stream abnormalities related to obstruction, diverticulosis, or bowel diversion. All cases showed columnar, variably mucinous epithelium associated with little-to-no lamina propria. All but one case showed fibrosis of the submucosa. Three cases had high-grade areas. Neoplastic glands and/or mucin dissected through the muscularis propria or subserosa in 3 examples. No extracolonic neoplastic cells/mucin, infiltrative invasion, or desmoplastic response were identified. Three patients with available follow-up [5.5-28 months] are alive. Whole genome sequencing identified pathogenic TP53 and ERBB2 variants, as well as ERBB2 copy number amplification in one high-grade example.
CONCLUSIONS
Though these tumours share clinicopathologic characteristics with their appendiceal counterparts, our cohort is too small to draw solid conclusions. We propose the term "extra-appendiceal mucinous neoplasm [EAMN]" for these rare lesions.
Topics: Humans; Female; Male; Aged; Middle Aged; Adenocarcinoma, Mucinous; Appendiceal Neoplasms; Biomarkers, Tumor; Aged, 80 and over; Neoplasm Grading; Whole Genome Sequencing; Mutation
PubMed: 38677555
DOI: 10.1016/j.humpath.2024.04.010 -
Cureus Mar 2024Multiple primary tumors are rare but their incidence is increasing nowadays with advancements in diagnostic methods and the extended survival of individuals previously...
Multiple primary tumors are rare but their incidence is increasing nowadays with advancements in diagnostic methods and the extended survival of individuals previously treated for malignancies. However, synchronous occurrence of gastric cancer (GC) and colonic cancer (CC) is a rare entity. A 41-year-old male came with complaints of epigastric pain associated with anorexia, rapid weight loss, and occasional constipation. Contrast-enhanced computed tomography (CECT) of the abdomen and pelvis reported mucosal thickening in the antrum, likely GC with circumferential wall thickening of the transverse colon with pericolic fat stranding suggestive of CC. Upper gastrointestinal endoscopy and colonoscopy were also done and a biopsy was taken from representative sites, which confirmed malignancy. He completed three cycles of chemotherapy preoperatively and underwent subtotal gastrectomy, D2 lymphadenectomy, gastrojejunostomy, jejunojejunostomy, and transverse colectomy simultaneously. Histopathological examination confirmed moderately differentiated gastric adenocarcinoma penetrating into the subserosa and well-differentiated colonic adenocarcinoma invading the muscularis propria. Immunohistochemical analysis of mismatch repair (MMR) proteins was done to determine the association with hereditary nonpolyposis colorectal cancer syndrome (HNPCC) or Lynch syndrome. The patient underwent postoperative chemotherapy along with immunotherapy. To conclude, synchronous occurrence of primary GC and primary CC with similar MMR protein expression in immunohistochemistry is an uncommon entity.
PubMed: 38646233
DOI: 10.7759/cureus.56607 -
The American Journal of Case Reports Mar 2024BACKGROUND Diffuse intestinal lipomatosis is a rare condition that infiltrates mature fatty tissue into the intestinal submucosa and subserosa of the small or large...
BACKGROUND Diffuse intestinal lipomatosis is a rare condition that infiltrates mature fatty tissue into the intestinal submucosa and subserosa of the small or large intestine and can present with intestinal obstruction or torsion. This report is of the case of a 58-year-old woman who had acute torsion of the small bowel due to diffuse small intestinal lipomatosis. CASE REPORT A 58-year-old woman, who was otherwise in good health, arrived at our Emergency Department experiencing sudden, intense pain in the lower abdomen. She also reported abdominal swelling, feelings of nausea, vomiting, and reduced ability to defecate for at least 2 days. The next morning, contrast-enhanced abdominal computed tomography (CT) scan was performed, showing diffuse thickening of the small intestinal wall with hypodensity, fatty density, lumen narrowing, and wall thinning. The small intestine demonstrated a whirlpool-like distribution in the lower right abdomen and localized thickening of the small intestinal wall, suggesting acute intestinal torsion. An hour later, an emergency operation was performed to remove part of the small intestine. Three days later, pathological results showed a thin intestinal wall, expansion of the mucosal layer and submucosa, and hyperplasia of adipose tissue. CONCLUSIONS This report presents a rare case of torsion and small bowel obstruction caused by diffuse intestinal lipomatosis and focuses on the abdominal enhanced CT scan, which showed diffuse thickening of the small intestine, with multiple areas of fat density and torsion of the small intestine in the right lower abdomen. Histopathology is also presented, with the result showing intestinal lipomatosis.
Topics: Female; Humans; Middle Aged; Intestine, Small; Abdomen; Intestinal Obstruction; Tomography, X-Ray Computed; Lipomatosis
PubMed: 38519985
DOI: 10.12659/AJCR.942527 -
Indian Journal of Pathology &... Apr 2024Well-differentiated neuroendocrine tumors of the appendix (A-WDNET) are the most common neoplasms of the appendix but are rare and incidental. INSM1 is a novel...
Evaluation of immunohistochemical expression of novel neuroendocrine marker INSM1 and histological tumor growth pattern in well-differentiated neuroendocrine tumors of the appendix: 15-year single tertiary center experience.
INTRODUCTION
Well-differentiated neuroendocrine tumors of the appendix (A-WDNET) are the most common neoplasms of the appendix but are rare and incidental. INSM1 is a novel transcription factor marker with high sensitivity and specificity for neuroendocrine differentiation. It may display architecturally diverse tumor growth patterns including solid, nest, insular trabecular, and acinar.
AIMS
The aim of this study was to determine the staining expression of INSM1 in A-WDNETs and detail the morphological tumor growth patterns.
MATERIALS AND METHODS
INSM1 immunohistochemistry was performed on 35 A-WDNET patients. Tumors were histologically classified according to their growth patterns.
RESULTS
Thirty-five patients, 60% of whom were male, had a mean age of 30 years at diagnosis and a mean tumor size of 0.9 cm. Eight percent of the tumors invaded the mucosa/submucosa, 34.3% showed invasion into the muscularis propria, 57.1% showed invasion into the subserosa or mesoappendix, LN metastasis was observed in two patients, lymph-vascular invasion in two patients, and perineural invasion in five patients. Ninety-four percent of the tumors were grade 1, the mitotic rate was >2% in two cases, and Ki-67 PI was >3% in two cases. INSM1 was positive in all cases (100%), 1+ 8.6%, 2+ 5.7%, 3+ 17.1%, 4+ 68.6%, weak staining in 11.4%, moderate staining in 22.9%, and strong staining in 67.7%. Type A histological growth pattern was observed in 54.3%, type B in 31.4%, and type C in 14.3% architecturally.
CONCLUSIONS
INSM1 was positive in all A-WDNET morphological patterns and was 100% sensitive. INSM1 IHC can be used as an alternative to traditional neuroendocrine markers or in combination with the diagnosis of neuroendocrine tumors.
Topics: Humans; Male; Neuroendocrine Tumors; Female; Adult; Repressor Proteins; Immunohistochemistry; Biomarkers, Tumor; Middle Aged; Appendiceal Neoplasms; Young Adult; Adolescent; Tertiary Care Centers; Appendix; Aged
PubMed: 38427752
DOI: 10.4103/ijpm.ijpm_514_23 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Feb 2024
Topics: Female; Humans; Uterus; Uterine Diseases; Fallopian Tube Diseases
PubMed: 38281796
DOI: 10.3760/cma.j.cn112151-20230926-00219 -
Clinical Journal of Gastroenterology Apr 2024We herein describe the rare case of a patient with a gastric duplication cyst who underwent laparoscopic resection. A 67-year-old man was referred to our hospital with...
We herein describe the rare case of a patient with a gastric duplication cyst who underwent laparoscopic resection. A 67-year-old man was referred to our hospital with an intra-abdominal lesion incidentally diagnosed on abdominal computed tomography. Esophagogastroduodenoscopy revealed normal esophageal and gastric mucosa without any lesions. Abdominal contrast-enhanced computed tomography revealed an 18 mm well-defined mass adjacent to the lesser curvature side of the esophagogastric junction. Following clinical diagnosis as an intra-abdominal mass, the patient underwent laparoscopic surgery in a five-port setting. The lesion originated from the stomach, near the muscular layer. The stomach muscle layer was partially resected; however, no communication between the mass and gastric mucosa was identified. Macroscopically, the resected specimen was 19 × 18 mm with a smooth surface and distinct margins. Microscopic examination confirmed the diagnosis of a gastric duplication cyst. The inner surface was covered with gastric gland pit-type columnar epithelial cells without atypia or neoplastic changes. The cyst wall presented layers of mucosa, muscularis mucosae, submucosa, muscularis propria, and subserosa. The patient's course after the procedure was uneventful, and he was discharged 8 days postoperatively. Gastric duplication cysts are rare and mostly asymptomatic, and their laparoscopic partial resection is safe and effective.
Topics: Male; Humans; Aged; Stomach Neoplasms; Laparoscopy; Esophagogastric Junction; Gastric Mucosa; Cysts
PubMed: 38281287
DOI: 10.1007/s12328-023-01916-5 -
Virchows Archiv : An International... May 2024Gastroblastoma is a rare gastric biphasic tumor composed of mesenchymal and epithelial elements in variable proportions. These tumors usually arise in the gastric antrum...
Gastroblastoma is a rare gastric biphasic tumor composed of mesenchymal and epithelial elements in variable proportions. These tumors usually arise in the gastric antrum of children and young adults and are reported to harbor a recurrent MALAT1::GLI1 fusion. Herein we report a case of gastroblastoma in a 19-year-old male who presented with intermittent epigastric abdominal discomfort. Antrectomy revealed a 5.6-cm multi-lobulated, tan-pink mass with solid and focally cystic areas involving the submucosa, muscularis propria, and subserosa. All tumor cells demonstrated immunoreactivity for GLI-1, CD56, and vimentin; epithelial elements expressed pancytokeratins (AE1/AE3 and Oscar), and mesenchymal cells demonstrated focal positivity for CD10. Next generation sequencing revealed a novel ACTB::GLI1 fusion without evidence of the recurrent MALAT1::GLI1 fusion. Nine months after surgery, the patient is well without evidence of recurrence or metastases. To our knowledge, this is the first case of gastroblastoma harboring this novel ACTB::GLI1 fusion.
Topics: Humans; Male; Zinc Finger Protein GLI1; Young Adult; Stomach Neoplasms; Biomarkers, Tumor; Gene Fusion; Oncogene Proteins, Fusion; Treatment Outcome
PubMed: 38260988
DOI: 10.1007/s00428-024-03742-7 -
International Journal of Surgery Case... Feb 2024Pneumatosis cystoides intestinalis (PCI) is a condition characterized by the presence of gas-filled cyst-like structures in the submucosa and subserosa of the small or...
INTRODUCTION
Pneumatosis cystoides intestinalis (PCI) is a condition characterized by the presence of gas-filled cyst-like structures in the submucosa and subserosa of the small or large intestine and in some cases accompanied by pneumoperitoneum. PCI is commonly considered a benign condition as opposed to pneumatosis intestinalis in life-threatening conditions such as mesenteric ischemia. Only a minority of cases of PCI are assumed to be primary or idiopathic with the majority being caused by a variety of underlying conditions. Symptoms of PCI are non-specific or may be absent altogether. Provided that there is no suspicion of an underlying life-threatening disease, PCI can be treated non-operatively.
CASE PRESENTATION
We present the case of a 71-year-old patient with pneumatosis intestinalis with free intraperitoneal gas known for three years. Due to self-limiting symptoms and lack of evidence of a life-threatening underlying disease, no specific therapy had been carried out so far. No underlying diseases could be found. Because of recurrent worsening abdominal pain and newly diagnosed partial small bowel obstruction with radiological signs of mesenteric torsion, resection of the affected small bowel was successfully performed.
DISCUSSION
Non-surgical management of PCI is possible provided that life-threatening causes of pneumatosis have been ruled out. Bowel obstruction is a rare complication of PCI which requires surgical treatment.
CONCLUSION
Our case report illustrates that symptoms of PCI may worsen over time, and that complications requiring surgical intervention may occur. We recommend regular monitoring of patients who are primarily treated non-operatively.
PubMed: 38194864
DOI: 10.1016/j.ijscr.2024.109220 -
Journal of Surgical Case Reports Nov 2023Pneumatosis cystoides intestinalis is a rare and usually benign condition in which multiple thin-walled cysts develop in the submucosa or subserosa of the...
Pneumatosis cystoides intestinalis is a rare and usually benign condition in which multiple thin-walled cysts develop in the submucosa or subserosa of the gastrointestinal tract. While usually asymptomatic, severe cases can result in pneumoperitoneum, which can be managed surgically or medically depending on circumstances. A 35-year-old male patient presented with signs and symptoms of intestinal obstruction. Then the patient was diagnosed with pneumatosis cystoides intestinalis. The patient underwent surgery, and antibiotic treatment, and was discharged improved with no incident. Pneumatosis cystoides intestinalis is a surgical condition that resembles other life-threatening top surgical emergencies and affects clinicians' decisions on diagnosis and treatment plans substantially, mainly in low-income countries. So, surgeons have to consider such kind of conditions and avoid the costs and morbidities associated with unnecessary bowel resection or surgery.
PubMed: 38026738
DOI: 10.1093/jscr/rjad612 -
Journal of Comparative Pathology Jan 2024An 11-year-old female Persian cat underwent ovariohysterectomy due to dilation of the uterine cavity with irregular thickening of the wall. Macroscopically, the middle...
An 11-year-old female Persian cat underwent ovariohysterectomy due to dilation of the uterine cavity with irregular thickening of the wall. Macroscopically, the middle and distal regions of the left uterine horn were swollen and the uterine wall was irregularly thickened due to the development of multiple coalescent, variably sized nodules. Microscopically, the nodules had originated in the endometrium and were composed of round to polygonal neoplastic cells arranged in dense sheets or ill-defined fascicles. The neoplastic cells had locally invaded the myometrium and reached the subserosa, with lymphovascular invasion. Immunohistochemically, the neoplastic cell population was partially positive for CD10, an established marker of endometrial stromal sarcoma (ESS) in humans, with focal and diffuse nuclear immunopositivity for oestrogen and progesterone receptors and immunonegativity for desmin and α-smooth muscle actin. Based on these findings, the uterine tumour was diagnosed as ESS and was considered to correspond morphologically to high-grade ESS in humans.
Topics: Humans; Female; Cats; Animals; Sarcoma, Endometrial Stromal; Endometrial Neoplasms; Uterine Neoplasms; Receptors, Progesterone; Cat Diseases
PubMed: 38011771
DOI: 10.1016/j.jcpa.2023.10.011