ABSTRACT:Lately, STK11 adnexal tumors have been described in patients with Peutz-Jeghers syndrome (PJS), showing overlap with other adnexal tumors, especially female adnexal tumor of probable Wolffian origin (FATWO). To date, there is no documentation of this tumor from the Indian subcontinent. A 25-year-old female with mucocutaneous pigmented macules presented with acute abdominal pain along with a family history of surgical resection for gastrointestinal polyps in her mother and sister. Imaging revealed a well-defined, cystic right adnexal mass, distinct from the ovary, measuring 4.1 cm. Her colonoscopic examination was unremarkable. She underwent paraovarian cystectomy. Histopathological examination revealed a tumor composed of epithelioid cells arranged in various growth patterns with mild nuclear atypia. Immunohistochemically, the tumor cells were positive for pan-keratin, calretinin, CD10, FOXL2, and androgen receptor, the latter in 50% of the tumor cell nuclei. Initially, a diagnosis of FATWO was considered. Targeted next-generation sequencing revealed a pathogenic STK11 exon 4 frameshift mutation (c. 574dup), which was subsequently confirmed as a germline alteration on peripheral blood testing by Sanger sequencing, thereby establishing the diagnosis of an STK11 tumor with PJS. The differential diagnoses of this tumor and the judicious application of immunohistochemical stains, along with genetic testing (including high-throughput molecular testing in a clinical context) for an exact diagnosis, are discussed herein. A literature review including the molecular results of this rare tumor is also presented.
ABSTRACT:Meissnerian neurofibroma is an extremely rare histological variant of neurofibroma, with less than ten reported cases of prominent differentiation toward pseudo-meissnerian bodies in the literature. The presence of focal or sparsely scattered pseudo-meissnerian bodies in neurofibromas is well documented in diffuse and plexiform types. It is also seen in various peripheral nerve sheath tumors, including schwannomas, as well as in congenital melanocytic nevi and neural crest hamartomas. The complete excision of the lesion is considered to be curative. We hereby present a rare case of prominent meissnerian differentiation in neurofibroma in a 26-year-old female.
ABSTRACT:Extranodal NK/T-cell lymphoma (ENKTL) of the central nervous system (CNS) is very rare. We herein report a case of ENKTL originating from the CNS in a 79-year-old woman. The patient presented with episodic seizures, left-sided limb weakness, altered mental status, and dysarthria for more than 1 month. Radiological examination revealed a solitary mass in the (laterality) frontal lobe of the brain, which was surgically removed. Histopathology revealed a tumor showing diffuse growth of large anaplastic cells with multiple reniform nuclei, horseshoe nuclei, and doughnut-like nuclei. Immunohistochemically, the tumor cells were diffusely positive for CD3, CD30, Gramazyme B, and TIA1 and negative for ALK and CD56. It was almost misdiagnosed as ALK-negative anaplastic large cell lymphoma, but positivity for cytotoxic markers and EBER-ISH helped establish the diagnosis of ENKTL. To the best of our knowledge, this anaplastic variant of ENKTL has not been reported in the CNS. We present this case to describe an uncommon aggressive variant of ENKTL at CNS as a rare location with diagnostic pitfalls.
ABSTRACT:Paraquat, a toxic herbicide, continues to be widely used in developing nations despite restrictions and severe health risks. Several cases of poisoning have been reported due to intentional ingestion, producing dose-dependent clinical manifestations, chiefly targeting the lungs and kidneys. However, only a few cases have been reported in pregnancy. We report mortality due to paraquat-induced lung injury in a young pregnant woman, in whom the poisoning occurred following the ingestion of paraquat-contaminated soil as part of pregnancy-induced pica. The case underscores the critical need for early recognition and intervention.
