Clinical Case Summary

A 52-year-old woman, already suffering from diabetes insipidus diagnosed 6 years earlier and on therapy with desmopressin, presented to our gastroenterology department for a routine screening colonoscopy after a positive FOBT. The patient did not complain of gastrointestinal symptoms. Subepithelial nodular formations with apical ulceration in the transverse colon were found. Pathological analysis revealed pseudonodular aggregates in the lamina propria composed of histiocytic elements (CD163+) morphologically compatible with Langerhans cells (CD1a+, Triptase-, MPO-, S100-/+, pan CK-). The diagnosis was confirmed by immunohistochemical analysis for Langherin, which turned positive.
Further outpatient evaluation with endocrinologist was scheduled, after which disease staging was initiated. Initially, PET-CT with FDG, EGDS, and thyroid FNA were performed, all of which were negative for additional disease localizations. Bone marrow aspiration and bone biopsy showed no infiltration, negative flow cytometry, and no evidence of V600E BRAF mutation in molecular biology.
A reassessment of the cerebral area was then performed by MRI, which revealed an expansive formation in the suprasellar region measuring 9x11x9 mm, compatible with an infundibulo-hypothalamic localization of the disease.
The patient then underwent gynecological evaluation, which revealed a vulvar lesion subjected to biopsy, with histological and immunohistochemical characteristics (CD1a+, S100+, Langherin+) consistent with the pathology.
A systemic therapy cycle was initiated for two months with vinblastine in 5 intravenous administrations of 3 mg, 6 mg, and then 8 mg weekly, along with a course of oral deltacortene 75 mg.
At the 2-month follow-up cerebral MRI after the end of therapy, the expansive posterior suprasellar formation appeared unchanged.
Twelve months after the previous colonoscopy, the lesions in the transverse colon previously described were no longer visible.

Clinical Case Summary

Langerhans cell histiocytosis (LCH) is a rare condition caused by the clonal proliferation of bone-marrow derived antigen presenting langerhan cells. Its incidence is prevalent in the pediatric population with 4-5 million cases per year in adults the incidence is even more rare with approximately 1-2 million cases per year. It can manifest as a unifocal, multifocal single-system, or even multi-system disease, which creates a true medical challenge in its diagnosis and management. LCH most commonly presents with osseous lesions, but is exceedingly rare in the GI tract with the prevalence limited to only a handful of cases–-approximately less than 30 in the English literature till date to the best of our knowledge. We present a 44-year-old Caucasian female with a past medical history significant for GERD, type 2 diabetes mellitus, gastroparesis, essential hypertension, and a family history of colon cancer in the patient’s maternal and paternal uncles was referred for evaluation of chronic abdominal pain and diarrhea via colonoscopy. Prior to the procedure, the patient admitted to chronic diarrhea and intermittent but self-resolving left lower quadrant abdominal pain, but otherwise denied any hematochezia, constipation, tenesmus, nausea or vomiting with oral intake, unintentional weight loss, fevers, chills, or recent illnesses. Colonoscopy showed erythema throughout the sigmoid colon, ulceration in the transverse colon, and a single sessile 2 mm polyp was found in the rectum. Transverse colon biopsy revealed a submucosal infiltrate of Langerhans cells with indented nuclei and pale eosinophilic cytoplasm and admixed inflammatory cells. Furthermore, immunohistochemical staining revealed cells strongly positive for S-100 protein, CD-1a, and CD56–confirming Langerhans cell histiocytosis. Our case is another rare presentation that contributes to the understanding of this highly variable disease and possible treatment with further clinical studies and trials.

References

-Image of the transverse colon biopsy with histiocytic infiltrate in the lamina propria
-Image of the CD-1a+ immunohistochemical staining

Clinical Case Summary

Enteropathy-associated T-cell lymphoma (EATL) is an intestinal tumour of intra-epithelial lymphocytes. It is most often, but not always, associated with celiac disease. It is a rare disease with an annual incidence rate of 0.5-1 per million. EATL Type I is a large cell lymphoma which is associated with celiac disease. EATL type II consists of small to medium-sized cells and has no known association with celiac disease.
The patient, a 60 year old female, presented with chronic diarrhea. Colonoscopy showed a small 3mm sessile polyp in the descending colon which was removed via cold snare polypectomy (insert pic). The colon mucosa was normal and random biopsies were taken. Histology did not have any abnormal features. The polyp histology showed lymphoid aggregates with a focal area of increased intraepithelial lymphocytes. This was inconclusive and not diagnostic of microscopic colitis. Celiac serologies were negative. The patient continued to have persistent diarrhea with electrolyte imbalances, and extensive evaluation was done. CT did not show any masses nor pancreatic lesions. Stool studies for bacterial infections, parasites were negative. She was treated presumptively for Small Intestinal Bacterial Overgrowth (SIBO) with rifaximin. However, her diarrhoea continued. Repeat colonoscopy was done two months later which showed mild erythema in the ascending colon (insert pic), and a 2mm transverse colon polyp and removed via polypectomy (insert pic). Random biopsies were again taken. Histology now showed monomorphic epitheliotrophic T-cell lymphoma (Insert pic).
Patient was diagnosed with aggressive monomorphic EATL type II. Although bone marrow examination did not show any evidence of lymphoma, she was managed with chemotherapy with cyclophosphamide, doxorubicin, vincristine, and prednisone.
This case highlights the importance of the approach to chronic diarrhea, and although rare, repeat endoscopy should be considered to ensure no worsening of lymphocytosis.

References

Delabie et al., Enteropathy-associated T-cell lymphoma: clinical and histological findings from the International Peripheral T-Cell Lymphoma Project. Blood 2011; 118 (1): 148–155.
Jolanda etal., Enteropathy associated T-cell lymphoma and its precursor lesions, Best Practice & Research Clinical Gastroenterology, Volume 24, Issue 1, 2010, Pages 43-56

Clinical Case Summary

Isolated cecal necrosis is a rare variant of ischemic colitis, more commonly seen in elderly patients with comorbidities. It is an uncommon cause of an acute abdomen and is a differential diagnosis to consider in patients with right lower quadrant abdominal pain.
Case report: A 51-year-old man, with a history of type 1 diabetes mellitus and end-stage chronic kidney disease, on a regular hemodialysis program, attended the emergency department for abdominal pain in the lower right quadrant and bloodless diarrhea, with a 12-hour evolution. On physical examination, he had a painful abdomen on palpation of the right quadrants. The analyses showed leukocytosis 12200/ul and C-reactive protein 190 mg/L. Abdominal computed tomography (CT) scan showed diffuse parietal thickening of the ascending colon measuring approximately 10 cm in length, associated with densification of the surrounding mesenteric fat and small locoregional ganglia, favoring the hypothesis of inflammatory pathology. Given the diagnostic doubt raised by the imaging examination and its impact on the therapy to be instituted, it was decided to perform a colonoscopy, which revealed the cecum mucosa and ileocecal valve with a black color, with superficial ulceration of the proximal limit with an abrupt transition to normal colic mucosa. Biopsies of the cecum were taken and histology confirmed the diagnosis of severe ischemic colitis (necrosis). Considering that CT did not reveal complications and the patient's surgical risk, conservative therapy was decided, with fluid therapy and antibiotic, and the patient had a favorable evolution.

References

Çakar E, Ersöz F, Bag M, Bayrak S, Çolak Ş, Bektaş H, Güneş ME, Çakar E. Isolated cecal necrosis: our surgical experience and a review of the literature. Ulus Cerrahi Derg. 2014 Dec 1;30(4):214-8.

Disclosure

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Clinical Case Summary

Introduction: Mastocytosis is an uncommon hematopoietic neoplasm characterized by clonal proliferation of atypical mast cells. The clinical manifestations of mastocytosis are heterogeneous,ranging from limited cutanous involvement to aggressive disease with various levels of extra cutanous multi-organ involvement. Most cases of mastocytosis are indolent, usually cutanous or indolent systemic mastocytosis (SM). Aggressive SM is a rare and often fatal disease. Gastrointestinal involvement in aggressive SM presents with non specific symptoms and the final diagnosis depends on the pathology. Herein, we present a special case of colonic mastocytosis
Clinical case: We report a case of 66 years old female patient who presented with chronic abdominal pain not responding to treatment. On physical examination showed abnormal abdominal pigmentation and reported that skin biopsy previously revealed urticaria pigmentosa. Laboratory investigations were unremarkable. Colonscopy was planned and showed diffuse reddish mottling of cecum and ascending colon. Multiple biopsies were taken and histopathological examination revealed focal crypt architectural distortion. The lamina showed moderate inflammatory cellular infiltrate. These are formed of lymphocytes and plasma cells with excess eosinophils > 100/HPF. Esinophilic cryptitis is seen. Subtle population of scattered ovoid cells with rounded ovoid nuclei are seen. Slide stained for CD117 revealed positive reaction highlighting frequent mast cells. Moderate diffuse colitis with frequent mast cells and excess eosinophils > 100/HPF. Picture is suggestive of mastocytosis involving colon. The patient started imatinib and prednisone and long term follow up showed complete relieve of abdominal pain.

Clinical Case Summary

A 76-year-old male patient was referred to our Centre for investigation of hematochezia since one month. He had a medical history of arterial hypertension, type 2 diabetes mellitus and hypercholesterolaemia. His daily therapy regimen includes dapaglifozin, metformin, ramipril and omegastatin. Except for mild, normochromic, normocytic anemia (haemoglobin 12.8 g/dL), elevated fibrinogen (531 mg/dL), glucose (136 mg/dL) and creatinine (1.6 mg/dL), his routine blood work was normal.
Colonoscopy revealed a 20 mm granular homogeneous lateral spreading tumor (LST) of the caecum, a 25 mm pedunculated polyp of the sigma and several flat, raised formations of brownish appearance, ranging between 5 and 30 mm of the rectum. All lesions were removed en bloc using diatermic and cold snare.
The histopathological examination revealed LST and the pedunculated polyp as tubulo-villous adenomas with high grade dysplasia; flat lesions were described as “flaps of colic mucosa with micronodular accumulations of histiocytes in the lamina propria and associated presence of calcific spheroid bodies with concentric lamellar architecture with a target arrangement (Michaelis-Gutman bodies), compatible with malacoplakia”. It is a rare inflammatory condition typically affecting diabetic or immunocompromised patients, caused by a macrophagic dysfunction that results in incomplete digestion of phagocytosed bacteria which, in turn, accumulate in the cell cytoplasm producing a granulomatous reaction. Apart from the genito-urinary tract, the gastrointestinal tract, particularly the sigmoid colon and rectum, represents the second most commonly affected area. Colorectal malakoplakia is usually an incidental finding, often found in association with adenomas and adenocarcinomas. Malacoplakia is a benign, self-limiting disease; however, its endoscopic aspect can range from polyps to lumps or plaques and it could enter in the differential diagnosis with other diseases or advanced cancers.

Clinical Case Summary

A 54-year-old man with no significant medical history underwent his first screening colonoscopy, during which four polyps were removed from the recto-sigmoid colon. Histopathologic analysis revealed adenocarcinoma arising in one of the polyps, prompting subsequent surgical resection of the sigmoid. While surgical pathology was negative for residual adenocarcinoma, incidental findings in regional lymph nodes revealed features consistent with chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). Flow cytometry revealed a kappa light chain-restricted B-cell population with immunophenotypic features of CLL/SLL, but the cell count was below the threshold required for a diagnosis of CLL. The patient had no symptoms, cytopenias, or lymphadenopathy, and he was ultimately diagnosed with monoclonal B-cell lymphocytosis (MBL). The patient required no immediate treatment and was placed under annual surveillance.
MBL is defined by the presence of a monoclonal B-cell population with a CLL immunophenotype that does not meet the diagnostic criteria for CLL. It is categorized as either low- or high-count based on B-cell count. Low-count MBL rarely progresses to CLL, while high-count MBL progresses to CLL requiring treatment at a rate of 1-2% annually. Signs of progression to CLL include doubling of white blood cell count, anemia, thrombocytopenia, night sweats, weight loss, enlarged lymph nodes or spleen, and recurrent infections. If a patient does not show any clinical evidence of progression to CLL, they can continue annual surveillance. In this case, the rare detection of neoplastic B-cells in the colon led to the early identification of MBL, which has not been previously reported as an incidental finding alongside adenocarcinoma. In summary, this case underscores the importance of thorough histopathological review and interdisciplinary collaboration with clinical correlation of incidental findings to guide monitoring of a premalignant hematologic condition.

References

There is no evidence of residual or metastatic adenocarcinoma in the tissue submitted from the resected sigmoid colon. Incidentally, the submitted lymph nodes have ill-defined capsular borders with loss of normal nodal architecture, suggestive of a clonal lymphoproliferative process. Immunohistochemistry performed on the lymph nodes demonstrates the following immunophenotype: the neoplastic B-cell population is positive for CD20, CD5, and CD23 and negative for CD3, CD10, and Cyclin D1. Overall, the findings are consistent with a diagnosis of CLL/SLL.