Clinical Neuropathology最新文献

Introduction: Medulloblastoma is the most common pediatric malignant embryonal tumor of the cerebellum. In the absence of radiologically proven metastasis, lumbar puncture with cytological examination of the cerebrospinal fluid (CSF) is mandatory for identification of the M1 stage. This study aims to evaluate CSF cytomorphology and prognosis of the M1 stage.

Materials and methods: A retrospective 6-year audit (2017 - 2023) was performed for all cases of medulloblastoma on histopathology (n = 303). CSF cytology was evaluated in 177 cases on 2 routinely prepared smears after cytocentrifugation. A detailed evaluation of cytomorphological features and corresponding histopathology was performed and correlated with outcome in M1 stage cases (n = 18).

Results: Out of 177 cases of histopathology-proven medulloblastoma, CSF cytology was reported as positive for infiltration in 18 cases (14 classical and 4 desmoplastic variants) and were assigned M1 stage. The median age of the patients was 7.5 years. CSF smear showed high cellularity with malignant cell clusters of more than 200 cells in 8 cases, whereas 4 cases had low cellularity with scattered cells and admixed with inflammatory cells. Tumor cells showed a high nucleocytoplasmic ratio, coarse chromatin, and prominent nuclear molding. Nucleoli were inconspicuous in 9 cases but were prominent and eosinophilic in 9 cases. The median overall survival (OS) and progression-free survival (PFS) in M1 stage medulloblastoma was poor, 2 months and 1 month, respectively. There was a difference in age and tumor histology among the M0, M1, and M2/3 stage medulloblastomas.

Conclusion: CSF infiltration by medulloblastoma cells characterized by high nucleocytoplasmic ratio, nuclear molding, and coarse chromatin, represents the M1 stage and portends a poor prognosis.

Pituicytomas are rare tumors of the pituitary gland arising along the distribution of the neurohypophysis in adults. Due to their rarity and varied radiological appearances, they are difficult to diagnose preoperatively. This is a small case series of 3 cases of pituicytoma, wherein, we highlight a rare case of ependymal pituicytoma in a 46-year-old man who presented with progressive loss of vision on both eyes. The patient presented with a suprasellar mass that on histopathological examinations was diagnosed as ependymal pituicytoma. Both histopathological and radiological diagnostic challenges are discussed of this rare case along with the other two cases of pituicytoma for comparison.

Aims: Histologic differentiation between primary brain tumors and metastases is an important aspect of intraoperative consultation. We present a case of metastatic carcinoma with microscopic features overlapping with that of an infiltrative glioma.

Materials and methods: We present a case of a 51-year-old female with a history of recurrent metastatic non-small cell lung carcinoma (NSCLC). We developed a morphometric approach to contrast the pattern of brain invasion of our index case to that of CNS WHO grade 4, IDH1 R132H mutant astrocytoma, diffuse large B-cell lymphoma (DLBCL), melanoma, and other adenocarcinomas of the lung primary. We designed two novel parameters: number of tumor cells per cluster and percentage of mutual overlap by tumor cells, to quantitatively assess the degree of brain infiltration and invasion of each malignancy. Next, we analyzed our Institutional Database of the molecular findings for all primary lung metastasis to the brain with in-house next-generation sequencing (NGS) panel.

Results and conclusion: Carcinoma and melanoma showed the largest cluster sizes of cells with an average cluster size of 238 ± 32 and 41 ± 5 cells, and DLBCL had an average of 3.2 ± 0.3 cells per cluster. When we compared extent of cell-to-cell coverage, DLBCL had the largest coverage with an average of 90 ± 8%, adenocarcinoma of the lung had 85 ± 7%, and melanoma had 55 ± 5%. The infiltrative features in this case are commonly seen in diffuse gliomas and are not characteristic of metastases. The molecular findings of co-mutation of RET and TP53 suggest these could emerge as possible drivers of a more infiltrative growth pattern.

Background: Symptomatic sellar salivary gland-like lesions (SSGLs) are uncommon, with fewer than two dozen case reports. Prior case reports have also not detailed pre- or postoperative endocrinopathies to determine if these lesions can be clinically distinguished prior to biopsy from Rathke cleft cysts (RCCs). In addition, prior molecular testing was attempted to provide further insights as to whether these might be developmental lesions or true neoplasms, but testing was unsuccessful.

Materials and methods: Report of 2 new cases of SSGLs with molecular testing to assess for potential gene mutations, copy number alterations, and fusions with literature review detailing demographic, clinical, endocrinological, neuroimaging, histological, and outcome features.

Results: A 53-year-old female and 33-year-old male developed large sellar lesions. The woman presented with fatigue and sudden-onset visual changes and the man with apoplectic-like severe headache. Biopsy specimens for both patients demonstrated clusters of histologically benign salivary gland-like acini accompanied by varying amounts of mucin and lymphocytic inflammation. None showed pituitary tumor. Postoperatively, one case developed persistent diabetes insipidus. Molecular testing revealed a lack of pathogenic mutations, copy number alterations, or gene fusions in both cases.

Conclusion: SGGLs differ histologically and sometimes in size from RCCs, although both can be cystic, contain abundant mucin, and may result in postoperative transient or permanent diabetes insipidus; they cannot be completely distinguished preoperatively from RCCs. Molecular testing did not demonstrate any mutations, copy number changes, or fusions for either case. Lack of pathogenic genetic alterations suggest these lesions may not be true neoplasms.

Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare benign entity with an increasingly heterogenous clinical presentation that is histologically characterized as a lesion with variably distributed elements within the dermis and subcutaneous tissues including mature adipose tissue, skeletal muscle, adnexal elements, and nerve bundles. It is associated with a range of syndromes and anomalies and has very rarely been identified in association with spinal dysraphism. Here we present one of only four cases reported in the literature of this entity occurring in association with a closed spinal dysraphism which is further differentiated by its presentation with an overlying dimple in the sacral skin as opposed to the previously reported cases of sacral skin tags and an atrophic plaque. On histological examination of the resected lesion, it was identified as an RMH.

Synchronous multiple pituitary neuroendocrine tumors (PitNETs)/adenomas are rare tumors of the anterior pituitary that are characterized by the expression of more than one pituitary transcription factor. Here, we describe and discuss an unusual case of synchronous multiple PitNETs/adenomas of triple SF1/PIT1/TPIT cell lineages. Clinical case presentation was that of a pituitary macroadenoma in a 69-year-old male patient suffering from visual impairment and high prolactin levels. Radiology featured a large, 3 × 2.5 × 3.5 cm suprasellar mass with a biphasic growth pattern. Transsphenoidal resection showed varying macroscopic appearances between anterior and posterior aspects of the tumor, which was confirmed on histology. Immunohistochemistry demonstrated varying expression of steroidogenic factor 1 (SF1) and T-box transcription factor (TPIT) in the anterior part of the tumor, while the posterior aspect of the tumor showed predominant expression of pituitary transcription factor 1 (PIT1). Immunofluorescence showed no colocalization of the different transcription factors in individual tumor cells. Hormone expression comprised FSH and α-subunit (in the SF1-positive components), prolactin (in the PIT1-positive components), and ACTH (in the TPIT-positive components). 6-months post-operative follow-up under treatment with cabergoline led further tumor mass reduction and significant decrease in prolactin levels. In sum, our case study expands existing data on synchronous PitNETs/adenomas of triple SF1/PIT1/TPIT cell lineages, and underscores the importance of comprehensive clinicopathological data assessment and synoptic interpretation. Further, we address so-far published literature on multilineage PitNETs, and suggest that existing pathophysiological knowledge would argue to interpret the findings in our case as synchronous PitNETs / adenomas of different cell lineages with multiple hormone expression.