A diagnostic algorithm for sinonasal papillary non-keratinizing squamous cell carcinoma with DEK:: AFF2 fusion and mimickers / Algoritmo diagnóstico para carcinoma sinonasal papilar de células escamosas no queratinizante con fusión e imitadores de DEK:: AFF2

Sinonasal carcinomas represent a rare and diverse group of tumors, presenting diagnostic complexities due to their varied histological and molecular features. To ensure accurate differentiation among these malignancies, a systematic and stepwise approach is paramount. Even with the morphological similarities between poorly differentiated (non) keratinizing sinonasal squamous cell carcinoma (SNSCC) and DEK::AFF2 SNSCC, the two lesions are distinguishable using the surrogate immunohistochemical marker AFF2 or molecular testing for DEK::AFF2 mutation. We report a rare case of SMARCB1-retained DEK::AFF2 papillary non-keratinizing SNSCC in a 53-year-old female, who presented with a polypoid mass corresponding to the left middle turbinate. Following the surgical resection of the tumor and locoregional lymph nodes, adjuvant radiotherapy was administered to eradicate any residual cancer cells that may have remained after surgery. (AU)

Los carcinomas sinonasales representan un grupo diverso e infrecuente de tumores que presentan complejidades diagnósticas debidas a la variedad de sus características histológicas y moleculares. Para asegurar una diferenciación precisa entre estas neoplasias es esencial un enfoque sistemático paso a paso. Incluso con similitudes morfológicas entre carcinoma sinonasal escamoso pobremente diferenciado, no queratinizante (CSNE) y DEK::AFF2 se puede distinguir entre las lesiones con el uso del marcador inmunohistoquímico sustitutivo AFF2 o la mutación molecular DEK::AFF2. Comunicamos un raro caso de CSNE no queratinizante SMARCB1-retained DEK::AFF2 en una mujer de 53 años con una masa polipoide en pliegue turbinado medio izquierdo. Tras la resección quirúrgica del tumor y de los ganglios linfáticos, se administró radioterapia adyuvante para eliminar el tumor residual. (AU)

A diagnostic algorithm for sinonasal papillary non-keratinizing squamous cell carcinoma with DEK:: AFF2 fusion and mimickers / Algoritmo diagnóstico para carcinoma sinonasal papilar de células escamosas no queratinizante con fusión e imitadores de DEK:: AFF2

Sinonasal carcinomas represent a rare and diverse group of tumors, presenting diagnostic complexities due to their varied histological and molecular features. To ensure accurate differentiation among these malignancies, a systematic and stepwise approach is paramount. Even with the morphological similarities between poorly differentiated (non) keratinizing sinonasal squamous cell carcinoma (SNSCC) and DEK::AFF2 SNSCC, the two lesions are distinguishable using the surrogate immunohistochemical marker AFF2 or molecular testing for DEK::AFF2 mutation. We report a rare case of SMARCB1-retained DEK::AFF2 papillary non-keratinizing SNSCC in a 53-year-old female, who presented with a polypoid mass corresponding to the left middle turbinate. Following the surgical resection of the tumor and locoregional lymph nodes, adjuvant radiotherapy was administered to eradicate any residual cancer cells that may have remained after surgery. (AU)

Los carcinomas sinonasales representan un grupo diverso e infrecuente de tumores que presentan complejidades diagnósticas debidas a la variedad de sus características histológicas y moleculares. Para asegurar una diferenciación precisa entre estas neoplasias es esencial un enfoque sistemático paso a paso. Incluso con similitudes morfológicas entre carcinoma sinonasal escamoso pobremente diferenciado, no queratinizante (CSNE) y DEK::AFF2 se puede distinguir entre las lesiones con el uso del marcador inmunohistoquímico sustitutivo AFF2 o la mutación molecular DEK::AFF2. Comunicamos un raro caso de CSNE no queratinizante SMARCB1-retained DEK::AFF2 en una mujer de 53 años con una masa polipoide en pliegue turbinado medio izquierdo. Tras la resección quirúrgica del tumor y de los ganglios linfáticos, se administró radioterapia adyuvante para eliminar el tumor residual. (AU)

A diagnostic algorithm for sinonasal papillary non-keratinizing squamous cell carcinoma with DEK::AFF2 fusion and mimickers.

Sinonasal carcinomas represent a rare and diverse group of tumors, presenting diagnostic complexities due to their varied histological and molecular features. To ensure accurate differentiation among these malignancies, a systematic and stepwise approach is paramount. Even with the morphological similarities between poorly differentiated (non) keratinizing sinonasal squamous cell carcinoma (SNSCC) and DEK::AFF2 SNSCC, the two lesions are distinguishable using the surrogate immunohistochemical marker AFF2 or molecular testing for DEK::AFF2 mutation. We report a rare case of SMARCB1-retained DEK::AFF2 papillary non-keratinizing SNSCC in a 53-year-old female, who presented with a polypoid mass corresponding to the left middle turbinate. Following the surgical resection of the tumor and locoregional lymph nodes, adjuvant radiotherapy was administered to eradicate any residual cancer cells that may have remained after surgery.

Sinonasal DEK-rearranged Papillary Non-keratinizing Squamous Cell Carcinoma: Expanding the Emerging Entity.

The newly emerging sinonasal carcinomas have demonstrated diverse morphologies and specific molecular mutations along with deviant clinical behavior from conventional counterparts. Also, many sinonasal malignancies turned to be SMARCB1/SMARCA4-deficient. Even with the morphological similarities between poorly differentiated (non) keratinizing sinonasal squamous cell carcinoma (SNSCC) from DEK::AFF2 SNSCC, the two lesions are not distinguishable using the surrogate immunohistochemical marker AFF2 or molecular testing for DEK::AFF2 mutation. We report a rare case of SMARCB1-retained DEK-rearranged papillary non-keratinizing SNSCC in a 53-year-old female, who presented with a polypoid mass corresponding to the left middle turbinate. The tumor and locoregional lymph nodes were surgically resected, followed by adjuvant radiotherapy.

Diagnostic algorithm for challenging blue cell sinonasal carcinoma.

The newly emerging sinonasal carcinomas have demonstrated diverse morphologies and specific molecular rearrangements along with deviant clinical behavior from conventional counterparts. We aim to propose a diagnostic algorithm that is based on molecular findings of each sinonasal cancer and is considering the new entities has been called upon. Such a diagnostic algorithm should help diagnostic pathologists establish a diagnosis of a challenging sinonasal blue cell carcinomas and researchers performing retrospective analysis of archival cases. Along with consulting our archival cases, literature mining was conducted to retrieve the immunohistochemical and molecular findings regarding the newly emerging entities. Our proposed algorithm distinguishes poorly differentiated (non) keratinizing SNSCC, from anaplastic myoepithelial carcinoma, NUT midline carcinoma, SMARCB1/SMARCA4-deficient teratocarcinosarcoma, SMARCB1/SMARCA4-deficient carcinosarcoma, olfactory neuroblastoma, sinonasal undifferentiated carcinoma, HPV-related multiphenotypic sinonasal carcinoma and other adenocarcinomas. By incorporating morphologic features, immunohistochemical markers, and molecular investigations, the algorithm enhances the accuracy of diagnosis, particularly in cases where comprehensive molecular testing is not readily available. This algorithm serves as a valuable resource for pathologists, facilitating the proper diagnosis of sinonasal malignancies and guiding appropriate patient management.

Early recurrence of aggressive leiomyosarcoma of the vagina.

Malignant mesenchymal tumors of the female genital tract are uncommon gynecological cancers, particularly in the vagina. They are typically aggressive and often relapse, both locally and at distant sites. The treatment of choice for primary tumors is surgical excision as they are generally refractory to chemotherapy and radiotherapy. We describe the case of a vaginal leiomyosarcoma in a 43-year-old woman who presented with abnormal genital bleeding and discharge. The tumor was excised but recurred locally after just 11 months. It was removed by hysterectomy with double adnexectomy and partial vaginal excision.

Superficial spreading cervical squamous cell carcinoma in situ involving the endometrium: a case report and review of the literature.

BACKGROUND: The spread of cervical squamous cell carcinoma to the inner surface of the uterus with replacement of the endometrium is rare. Continuity of the lesion must be demonstrated to confirm superficial spread and rule out concomitant endometrial cancer. CASE PRESENTATION: We present the case of a 66-year-old white woman with superficial spreading squamous cell carcinoma of the cervix that involved the endometrium. Her relevant past history included conization of the cervix to treat cervical intraepithelial neoplasia III with positive margins. She subsequently had three negative cervical vaginal cytology results, each with a positive high-risk human papillomavirus test. Transvaginal ultrasound showed occupation of the entire uterine cavity by dense material consistent with pyometra in addition to myometrial thinning due to tension and cervical dilation. The patient presented with greenish vaginal discharge of 3 months' duration. The cervix was not visible during speculum examination. Access for endometrial sampling was not possible, raising suspicion of post-conization cervical stenosis. The patient was treated with laparoscopic hysterectomy with double adnexectomy. Histologic examination showed superficial squamous cell carcinoma invading the cervix to a depth of 2.8 mm; superficial spreading squamous cell carcinoma in situ was also observed in the lower uterine segment and endometrium. The patient was free of symptoms 12 months after surgery. CONCLUSIONS: Squamous cell carcinoma of the cervix with superficial spread to the endometrium is not included in the 2020 (fifth edition) World Health Organization Classification of Female Genital Tract Tumors or the 2018 International Federation of Gynecology and Obstetrics cervical cancer staging system. More clinical cases are needed to identify other prognostic factors and inform clinical practice guidelines on the management of this disease.

Fine-needle aspiration cytological findings in three cases of metastatic amelanotic melanoma to the parotid gland with divergent differentiation.

This report presents the clinical and pathologic findings of three cases of metastatic amelanotic melanoma to the parotid gland. Two of the patients had a primary cutaneous tumor. Fine-needle aspiration of the parotid showed clusters of epithelioid cells and/or spindle-shaped cells with vesicular nuclei, macronucleoli, and abundant eosinophilic cytoplasm. In addition, one had striking balloon-cell features. In the immunohistochemical study, the tumors expressed S-100, HMB-45 antigen, Melan-A, and SOX10, and focally smooth-muscle actin, cytokeratin, CD56, p63, and synaptophysin. The diagnosis was challenging because the tumors were clinically thought to be primary parotid lesion and showed unusual immunohistochemical labeling for SMA, cytokeratins, p63, and neuroendocrine markers. Furthermore, the long clinical history in two of the cases made the diagnosis of a metastatic lesion less likely. Diagnostic errors can be reduced by integrating cytomorphologic, histologic, immunohistochemical, and clinical findings.

Intestinal-type adenocarcinoma of the Bartholin gland: A case report and literature review.

PURPOSE: To report a case of intestinal-type adenocarcinoma of the Bartholin gland treated successfully with surgery and to review the current literature. METHODS: We report the case of a 45-year-old white woman with intestinal-type adenocarcinoma of the Bartholin gland treated with wide local excision followed by bilateral inguinal femoral lymph node dissection without adjuvant therapy. We also review the literature on the treatment and management of this rare tumor. We searched Pubmed / MEDLINE databases for previous case reports or series using the keywords "Bartholin gland", "adenocarcinoma" and "intestinal type". RESULTS: We found 19 cases of intestinal-type adenocarcinoma of the Bartholin gland published up to November 2020. The treatments described varied from case to case. CONCLUSION: Intestinal-type adenocarcinoma of the Bartholin gland has been treated and managed in the same way as squamous carcinoma. Treatment of these cancers is understudied and involves local resection with curative intent. More case reports are needed to determine the best treatment strategies.

Intestinal-type mucinous adenocarcinoma of the Bartholin gland in a perimenopausal woman. A case report and review of the literature.

We report the case of a 46-year-old woman who presented with a tumor on the left labium majus in the region of the Bartholin gland. Surgical excision revealed a mucinous adenocarcinoma of intestinal-type (CK20+, CDX-2+). Magnetic resonance imaging, computed tomography of the chest and abdomen and colonoscopy ruled out the presence of other tumors. A second immunohistochemical study showed negative results for GATA-3, mammaglobin and GCDFP-15. Molecular analysis revealed a mutation in exon 2 of the KRAS gene. We discuss its differential diagnosis and the importance of being aware of this unusual variant of a mucinous adenocarcinoma the Bartholin gland.

Breast metastasis from medullary thyroid carcinoma mimicking ductal carcinoma with neuroendocrine differentiation.

BACKGROUND: Medullary thyroid carcinoma very rarely metastasizes to the breast. Hematogenous spread to the liver, lungs, or mediastinum is more common. CASE: We describe the morphologic and immunohistochemical features of a 63-year-old woman who presented with a BIRADS-5 category nodule in the right breast and enlarged axillary lymph nodes. Core biopsy showed suggested breast cancer with neuroendocrine or apocrine differentiation. The immunohistochemical profile showed (RE-/RP-/HER-2-) and Ki67 10%. Chromogranin and synaptophysin were positive; AR and GCDFP-15 were negative. On reviewing the patient's clinical history, it was discovered that she had been treated for medullary thyroid carcinoma 15 years earlier. Additional stains showed positivity for TTF-1, CEA, and calcitonin. These findings were consistent with a diagnosis of breast metastasis from medullary thyroid carcinoma. We discuss briefly the morphologic features and the possible key features in order to make an accurate diagnosis. CONCLUSION: This case highlights the importance of investigating a history of cancer in patients with discordant or unusual histologic or immunohistochemical findings, as this can help avoid misdiagnosis and inappropriate treatment.

Uterine pleomorphic leiomyosarcoma with osteoclastic giant cells: case report with peritoneal washing cytology and cell block study / Leiomiosarcoma pleomórfico uterino con células gigantes osteoclásticas: descripción de un caso con estudio de lavado peritoneal y bloque celular

Uterine leiomyosarcoma (LMS) with osteoclastic giant cells (OGCs) is extremely rare. However, its morphological appearance and aggressive behavior may have resulted in its being diagnosed as so-called giant cell malignant fibrous histiocytoma (MFH) in the past. Effusions are not uncommon in LMS and may be indicative of an unfavorable prognosis. We report a case with the cytological appearance of a uterine LMS with OGCs metastatic to lower pelvic peritoneum. The pelvic washing specimen consisted of three-dimensional aggregates of atypical cells. The cytohistologic and immunohistochemical study obtained from the cell block and the tumor mass showed overlapping features such as bizarre pleomorphic spindle cells containing numerous evenly dispersed OGCs. The malignant tumor cells showed extensive positivity for desmin, h-caldesmon and multifocal positivity for smooth muscle actin (SMA) whereas OGCs stained with CD68. We stress the usefulness of performing cell block and subsequent immunohistochemistry in order to make an accurate cytohistologic correlation

El leiomiosarcoma uterino (LMS) con células gigantes osteoclásticas (OGCs) es extremadamente raro, morfológicamente remeda al antes así llamado FHM de células gigantes y muestra comportamiento agresivo. Describimos los hallazgos citológicos de un LMS uterino con OGCs metastático a peritoneo pélvico inferior. El lavado pélvico mostró agregados tridimensionales de células atípicas. El estudio citohistológico e inmunohistoquímico del bloque celular mostraron células fusiformes bizarras (desmina, h-caldesmón y SMA+) y OGCs dispersas (CD68+). Destacamos la utilidad de realizar bloque celular, que permite la aplicación de estudios inmunohistoquímicos para establecer una correlación citohistológica adecuada

Uterine pleomorphic leiomyosarcoma with osteoclastic giant cells: Case report with peritoneal washing cytology and cell block study.

Uterine leiomyosarcoma (LMS) with osteoclastic giant cells (OGCs) is extremely rare. However, its morphological appearance and aggressive behavior may have resulted in its being diagnosed as so-called giant cell malignant fibrous histiocytoma (MFH) in the past. Effusions are not uncommon in LMS and may be indicative of an unfavorable prognosis. We report a case with the cytological appearance of a uterine LMS with OGCs metastatic to lower pelvic peritoneum. The pelvic washing specimen consisted of three-dimensional aggregates of atypical cells. The cytohistologic and immunohistochemical study obtained from the cell block and the tumor mass showed overlapping features such as bizarre pleomorphic spindle cells containing numerous evenly dispersed OGCs. The malignant tumor cells showed extensive positivity for desmin, h-caldesmon and multifocal positivity for smooth muscle actin (SMA) whereas OGCs stained with CD68. We stress the usefulness of performing cell block and subsequent immunohistochemistry in order to make an accurate cytohistologic correlation.

Pulmonary metastasis of cribriform-morular variant of thyroid carcinoma mimicking primary adenocarcinoma of the lung: A potential pitfall.

Cribriform-morular variant of papillary thyroid carcinoma (CMV-TC) shows a peculiar mixture of follicular, cribriform, papillary, trabecular, and solid patterns with squamoid morules. Ocassionally, lung metastasis may be interpreted incorrectly as primary lung adenocarcinoma. We illustrate a case of pulmonary meastasis of CMV-TC mimicking a primary adenocarcinoma, 7 years after diagnosis of CMV-TC. The lung metastases may be easily missed if the pathologist is unaware of the patient's prior history and a limited immunohistochemical panel (CK7 and TTF-1) is used. The histologic and immunohistochemical (ß-catenin+, ER+, PR+, TTF-1 +, and CK7+) findings were diagnostic of CMV-TC and ensured adequate treatment.