ABSTRACT
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)
Subject(s)
Humans , Female , Middle Aged , Squamous Cell Carcinoma of Head and Neck/diagnosis , Paranasal Sinuses , Squamous Cell Carcinoma of Head and Neck/radiotherapy , Squamous Cell Carcinoma of Head and Neck/surgeryABSTRACT
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)
Subject(s)
Humans , Female , Middle Aged , Squamous Cell Carcinoma of Head and Neck/diagnosis , Paranasal Sinuses , Squamous Cell Carcinoma of Head and Neck/radiotherapy , Squamous Cell Carcinoma of Head and Neck/surgeryABSTRACT
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.
Subject(s)
Carcinoma, Squamous Cell , Paranasal Sinus Neoplasms , Female , Humans , Middle Aged , Paranasal Sinus Neoplasms/diagnosis , Paranasal Sinus Neoplasms/genetics , Cell Differentiation , Lymph Nodes , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/genetics , Algorithms , Nuclear ProteinsABSTRACT
Introduction: Ganglioneuromas (GNs) are slow-growing, benign tumors arising from Schwann cells, gangliocytes, and neuronal tissues. Case Presentation: We report a rare intraparotid ganglioneuroma in a 42-year-old female presented with a parotid mass. The onset of the lesion dated back to 2021, but the growth was remarkable only in November 2022. The FNA suggested a plexiform neurofibroma. The post-surgical microscopic examination of the excised lesion revealed neoplastic large, rounded cells with abundant, finely granular eosinophilic cytoplasm and a large, eccentric nucleus with a prominent nucleolus as well as fasciculated, with an elongated cytoplasm with fine fibrillar extensions. No mitosis or tumor necrosis was observed. The periphery of the tumor showed perineural entrapment. The immunohistochemical staining for S100 protein, synaptophysin, and chromogranin A were positive. However, the neoplastic cells showed no immunoreactivity for cytokeratin (CK5/6, CK7, AE1/AE3), epithelial membrane antigen, HMB45, Melan A, CD30, CD117 and p40. The case was signed out as mature intraparotid ganglioneuroma. Conclusion: The treatment of choice was surgical resection without adjuvant radiotherapy. No recurrence or post-surgical complications were hitherto reported. To the best of our knowledge, this is the first reported case of intraparotid ganglioneuroma. Caution should be taken not to diagnose this benign neoplasm as a metastasis (e.g. metastatic neuroblastoma) or to request unnecessary overtreatment (e.g., postoperative chemotherapy and radiotherapy).
ABSTRACT
Introduction: Metachronous mucoepidermoid carcinomas (MMEC) may occur in association with childhood leukemias and lymphomas. We compared molecular abnormalities of MMEC in patients with ALL with the abnormalities found in primary mucoepidermoid carcinomas (MECs) in pediatric cases and young adults. Materials and methods: Immunohistochemical stains for p63 and SOX10, molecular alterations in MAML2 and KMT2A genes detected by FISH and/or next-generation sequencing were studied in 12 pediatric MMECs secondary to ALL and six primary MECs in pediatric patients and young adults. Follow-up information of patients in both groups was obtained. Results: KMT2A rearrangements were detected in pediatric MMECs, and they were associated with remarkable histomorphological changes, including deposits of abundant stromal collagen and intratumoral lymphoid proliferations. No KMT2A rearrangements were found in primary MECs. The prognosis of MMEC in patients with ALL, especially in KMT2A-rearranged cases, was worse than in primary MECs. Kruskal-Wallis test showed a statistically significant difference in overall survival between KMT2A-rearranged MMECs and KMT2A-intact MMECs in cases with ALL (p = 0.027). Conclusion: KMT2A-rearranged MMECs in ALL patients may have inherently more aggressive behavior, even when the histomorphology of MMEC suggests a low-grade malignancy.