A Case of Cotyledonoid Dissecting Leiomyoma With Associated Disseminated Peritoneal Leiomyomatosis: The Significance of Frozen Section in Identification of This Unusual Entity.

Cotyledonoid dissecting leiomyoma (CDL) is a rare variant of uterine leiomyoma. The tumor is benign, but the appearance and growth pattern are unusual and alarming. Disseminated peritoneal leiomyomatosis (DPL) is another rare tumor that can mimic malignancy. The occurrence of these two tumors in a single case is even rarer and has not been found in the literature to the best of our knowledge. We report a case of CDL with DPL in a 43-year-old Nepalese woman who presented with abdominal pain and per vaginal bleeding. Ultrasound showed a heterogeneous hypoechoic mass of size 25.1 × 15.5 × 9.4 cm in the pelvic cavity. A CT scan of the abdomen and pelvis revealed an ill-defined, heterogeneously enhancing lesion in the pelvis around the uterine fundus with a peritoneal nodule. The intraoperative frozen section evaluated the peritoneal deposit to be benign. Due to the large size of the uterine mass, a total abdominal hysterectomy and a bilateral salpingo-oophorectomy were performed. Macroscopically, a large heterogeneous intramural and exophytic mass was observed, which, on histopathology and immunohistochemistry (IHC), revealed the benign smooth muscle origin of the tumor. In the seven-month follow-up period, no recurrence or any other related complications were found. It is important to recognize this rare variant of leiomyoma with the possibility of dissemination that can also happen in leiomyoma to prevent aggressive and inappropriate overdiagnosis and overtreatment. Whenever possible, it is advisable to perform a frozen section biopsy and IHC for the correct diagnosis.

Serrated adenocarcinoma of sigmoid colon with mismatch repair protein-proficient phenotype: Histopathological recognition of a new subtype of colorectal adenocarcinoma.

Serrated adenocarcinoma is a distinct subtype of colorectal carcinoma characterized by unique histological and molecular features. Here we present a case study of a 58-year-old female patient who presented with generalized weakness, abdominal discomfort, and per-rectal bleeding. This case report highlights the importance of understanding the histopathological features of serrated adenocarcinoma for accurate diagnosis which has impact on further management.

Ring Finger 43 Hot-spot Frameshift Mutation G659V in Colorectal Cancer Patients: Report from a Tertiary Cancer Care Hospital in North India.

Background: The Ring Finger 43 (RNF43) is a tumor suppressor gene that negatively regulates the Wnt/ß-catenin signaling. The p.G659fs is a recurrent RNF43 C-terminal truncating variant frequent in colorectal cancer (CRC) patients. We aimed to identify this hotspot variant in CRC patients and assessed the relationship between the mutation, clinical characteristics, and tumor ß-catenin localization. Materials and Methods: Formalin-fixed, paraffin-embedded tissue samples of upfront, surgically resected, sporadic colorectal adenocarcinoma cases were selected. The p.G659fs mutation was determined by capillary sequencing with sequence-specific primers. Tissue microarray and immunohistochemistry were employed to analyze nuclear ß-catenin expression and the expression of mismatch repair (MMR) proteins, respectively. In addition, clinical details were retrieved from the hospital medical records and data were analyzed. Results: The RNF43 p.G659fs mutation was observed in 8% of CRC patients. In total, 25% of tumors showed a loss of immunostaining for one or more MMR proteins and 14.6% of tumors showed positive nuclear ß-catenin staining. The p.G659fs variant was significantly enriched in MMR-deficient tumors (P = 0.04). Importantly, no correlation was observed between the variant and nuclear ß-catenin localization (P = 0.48), indicating a Wnt-independent role of this variant in CRC tumors. Conclusions: To the best of our knowledge, this is the first study from North India to show the involvement of RNF43 p.G659fs variant in CRC patients. The mutation correlated with MMR protein deficiency and seems to be conferring tumorigenicity independent of the Wnt pathway.

Lymphoepithelial carcinoma of tongue - Devil in garbs of Hodgkin lymphoma: A case report and review of literature.

Lymphoepithelial carcinoma (LEC) of head and neck region predominantly arises in salivary gland, oral cavity, oropharynx, nasal cavity, paranasal sinuses, and larynx; those arising from tongue are rare. Morphologically, it is a poorly differentiated squamous cell carcinoma, with early regional and distant metastasis. Diagnosis of LEC can sometimes be challenging especially in small biopsy and more so when seen at unusual location. Combination of morphology and immunohistochemistry (IHC) helps the diagnosis. Herein, we report a rare third case of LEC arising from lateral border tongue, diagnosed in a 36-year-old male. The presented case highlights challenges faced during diagnosis in small biopsy. Treatment of LECs comprises of surgery followed by radiotherapy or combined chemoradiation. Though, almost 70% of LEC of oral cavity region present with cervical nodal metastasis, their prognosis remains favorable.

Early transformation event from follicular lymphoma: our experience of four cases.

Follicular lymphoma (FL) is a mature B-cell lymphoma that can transform into a more aggressive disease such as diffuse large B-cell lymphoma, Burkitt lymphoma, or precursor B-lymphoblastic leukaemia/lymphoma. The process of transformation of FL occurs by the acquisition of additional genetic alterations, e.g. c-MYC rearrangement, TP53, and cyclin D1 inactivation. Herein, we describe four such cases of FL that transformed into more aggressive B-cell non-Hodgkin lymphomas within six months of their initial diagnosis. Subsequent testing of c-myc, P53 and cyclin D1 by immunohistochemistry and fluorescence in situ hybridization was done to further analyse their role in the process of transformation.

Tumor to Tumor Metastasis: A Case Report.

Colon carcinoma spreads locally around the intestine wall and can undergo distant metastasis via the hematogenous or lymphatic spread. It rarely metastasizes to the female genital tract and is not fully reported to involve a uterine leiomyoma. Herein we report such an unusual case of a 27 years female a known case of sigmoid colon adenocarcinoma who presented with abdominal pain with bilateral adnexal mass and per vaginal bleeding. Exploratory laparotomy with bilateral resection of ovaries with subsequent polypectomy was done, which on histopathology, it revealed metastatic adenocarcinoma in bilateral ovaries and submucosal leiomyoma. Hence, a lesion with dimorphic histomorphology should be carefully evaluated to rule out the possibility of malignant-to-benign tumor-to-tumor metastasis.

Leiomyosarcoma of the Inferior Venacava: A Case Report.

Leiomyosarcoma of inferior venacava is a rare tumor. Female are most commonly affected and middle segment of inferior vena cava is the commonest site. The diagnosis can sometimes be challenging as patients present with non-specific symptoms. We present a case of a 65-year-old female who presented with pain in right hypochondrium and epigastric region since 4 months along with weight loss, anorexia and vomiting. Histopathological examination revealed a capsulated, multilobated tumor arising from muscle layer of inferior venacava with extraluminal growth pattern and tumor cells showing cytoplasmic positivity for immuno-histochemical stain smooth muscle actin. With the diagnosis of leiomyosarcoma of inferior venacava, excision of tumor was done with tangential excision of 4 cm length of inferior venacava with primary repair. Keywords: inferior venacava; leiomyosarcoma; smooth muscle actin.