Case Reports in Pathology最新文献

Introduction and importance: Mucinous micropapillary carcinoma breast (MMPC) is one of the rarest subtypes of breast cancer (BC) with clinicopathologic features correlated with poor prognosis. We are aimed at identifying MMPC cases and correlate them with histopathological features, overall survival (OS), and recurrence-free survival (RFS).

Case presentation/materials and methods: We retrospectively identified cases of MMPC from our institutional repository from 2017 to 2022. Data were collected regarding age, stage of BC at the time of diagnosis, tumor size, lymphovascular invasion (LVI), extranodal extension (ENE), lymph node (LN) metastasis, tumor biology, recurrence, and OS. Quantitative variables are calculated as median with range (IQR), whereas qualitative variables are presented in percentages.

Clinical discussion/results: Nine MMPC cases were reported in the last 6 years, with a median age at diagnosis of 49 years. At diagnosis, 66.67% (6/9) were Stage III followed by Stage II; the average tumor size was 4.5 cm and the majority of tumors were Grade II (77.78%) followed by Grade III. LVI was seen in 66.67%, ENE in 33.33%, and LN metastases in 66.67%. Estrogen receptor (ER)/progesterone receptor (PR) was positive in 77.78%. The OS was 7/9 (77.78%) at the median follow-up of 3.5 years; recurrence was reported in two patients with an RFS of 77.78% (7/9).

Conclusion: Our results demonstrate that MMPC is a rare entity that presented at a younger age with more advanced disease. Patients presented with larger tumor size, intermediate- to high-grade tumor morphology, LVI, ENE, and LN metastasis. These tumors also overexpressed ER and PR. Despite this, clinical outcomes in our cohort were relatively favorable, which is also reflected in OS (77.78%) and RFS (77.78%) at a median follow-up of 3.5 years.

B/T-lymphoblastic lymphoma (LBL), not otherwise specified (NOS), is a rare precursor lymphoid neoplasm that exists along a biological spectrum with acute lymphoblastic leukaemia (ALL). Although traditionally distinguished by the extent of bone marrow involvement, this separation becomes increasingly blurred in advanced or leukaemic presentations. Central nervous system (CNS) haemorrhage is a recognised but uncommon complication of acute leukaemia and is exceptionally rare as an initial manifestation within the LBL-ALL spectrum. We report a 58-year-old man with a 6-month history of recurrent constitutional symptoms and anaemia, partially relieved by supportive therapy, a clinical course more suggestive of an LBL than de novo ALL. On admission, he was febrile, anaemic, thrombocytopenic and hypoxic, with hepatomegaly and mild lymphadenopathy, and deteriorated rapidly, dying within 24 h. Post-mortem examination revealed a hypercellular bone marrow extensively replaced by lymphoblasts, widespread multiorgan infiltration and a large intracerebral haemorrhage with ventricular and subarachnoid extension. Histological examination demonstrated leukostasis, perivascular lymphoblast infiltration, leukaemic nodules and areas of both acute and chronic haemorrhage. The chronic clinical course, limited nodal disease and extensive marrow and extranodal involvement support an interpretation of advanced LBL, NOS in the leukaemic phase. This presentation also highlights the substantial biological overlap with ALL. This case highlights the risk of catastrophic CNS haemorrhage across the LBL-ALL spectrum and reinforces the need for vigilance, timely diagnostics and the enduring value of autopsy in clarifying unexpected deaths.

Ewing's sarcoma (EWS) is a highly aggressive tumor of neuroectodermal origin, rarely occurring in the sinonasal tract, particularly in adults. We report a 27-year-old male with long-standing nasal obstruction, initially misdiagnosed as nasal chondromesenchymal hamartoma. Surgical excision revealed a destructive, vascular sinonasal mass. Histology showed sheets of small round cells within a sclerotic stroma, and immunohistochemistry positivity for CD99, vimentin, cyclin D1, BCL2, and NKX2.2 confirmed EWS. This case underscores the diagnostic difficulty of sinonasal small round cell tumors and the necessity of thorough histopathological and immunohistochemical analysis.

Pericardial disease can present clinically as acute pericarditis, pericardial effusion, cardiac tamponade, and constrictive pericarditis (CP). Pericardial calcification is present in less than 25% of all cases of CP, and patients with this finding are at risk for developing additional cardiac complications. A case of extensive pericardial ossification in a 65-year-old male presenting with pericardial effusion is reported. The patient had several episodes of pericardial effusion and was diagnosed with CP and subsequently managed on medical therapy. Due to worsening symptoms, additional investigations were completed, including echocardiogram, which revealed diastolic dysfunction with constrictive physiology. He underwent bilateral anterior pericardiectomy, and during the surgery, thickened, calcified, and adherent pericardium was identified, along with pockets of effusion. Cytology of pericardial fluid was negative for malignant cells. Histologic sections of the pericardium demonstrated extensive pericardial ossification with widespread bone formation in pericardial/epicardial adipose tissue. Idiopathic pericardial ossification, as identified in our case, is a rare phenomenon only described several times in the literature and may cause CP. Early intervention with pericardiectomy is a predictor of good outcome in CP, and thus, it is important to include rare entities such as metaplastic ossification in the differential for pericardial disease, to facilitate prompt diagnosis and surgical intervention.

Solid-basaloid adenoid cystic carcinoma (SB-AdCC) of the breast is a rare neoplasm. We report the case of a 78-year-old woman who presented with a progressively enlarging right breast mass over 3 years. Clinical examination revealed a 6-cm mass with visible skin ulceration and right axillary lymphadenopathy. Imaging suggested malignancy, and biopsy showed a poorly differentiated tumor composed of basaloid cells arranged in solid nests with focal cribriform areas and necrosis. Immunohistochemically, the epithelial cells were positive for CD117 and CK7, whereas the myoepithelial component showed focal positivity for p63, CK5/6, and S100, and the tumor was negative for ER, PR, and HER2, with a Ki-67 index of approximately 40%. These findings supported a diagnosis of SB-AdCC of the breast with nodal metastasis. After multidisciplinary discussion, the patient underwent palliative mastectomy. At 12-month follow-up, local recurrence and bilateral axillary metastases were identified. This case emphasizes the diagnostic challenge of SB-AdCC, its overlap with basaloid carcinoma, and the importance of recognizing its distinct morphological and molecular features.

Mesenchymal proliferations involving the gastrointestinal tract are uncommon and often unexpected upon initial clinical presentation. Here, we are reporting a case of a 20-year-old male patient presenting to the hospital with abdominal pain and vomiting. Upon evaluation, the patient was initially discharged home on antacid therapy. The symptoms progressed in intensity, and a subsequent CT scan was remarkable for marked gastric expansion and a prepyloric mass. The macroscopic examination of the resected lesion revealed a 5.6 cm multilobular fibrotic mass involving the gastric wall. Microscopic analysis was notable for a spindle-cell lesion with admixed lymphoplasmacytic inflammation, patchy necrosis, and calcifications. The immunohistochemical workup was suggestive of a reactive nodular fibrous pseudotumor. This case is notable for several aspects, including the acute clinical presentation, intralesional calcifications, abundant IgG4-positive plasma cells, and lack of CD117 immunohistochemical expression. The peculiarities of the case and a review of the medical literature will be presented.

Male breast cancer (MBC) is a rare condition, accounting for < 1% of all breast cancer cases. Reports of bilateral synchronous MBC are even more uncommon. Although lobular carcinoma is generally absent in the male mammary gland, a few cases of lobular carcinoma in MBC have been documented, comprising 1%-2% of all MBC cases. A man in his 80s presented to our hospital with a mass on his left nipple. After detailed examination, he was diagnosed with invasive ductal carcinoma of the left breast and invasive lobular carcinoma of the right breast. Because he had a family history of breast cancer, he underwent genetic testing and was found to have a BRCA2 gene mutation (c.331_347delinsC [p.Asn111Leufs∗5]). Simultaneous surgery was performed for bilateral breast cancer. Although drug therapy and radiation therapy were recommended after the operation, the patient was under observation due to his advanced age. A brief literature review is presented in this section.

Meningioma, one of the most common neoplasms of the central nervous system in adults, is most likely derived from the meningothelial cells of the arachnoid matter. Although most meningiomas have a benign clinical course and a relatively good prognosis, some can demonstrate more aggressive biological features, including local invasion and distant metastases. Extracranial meningioma metastases are rare, occurring in less than 1% of cases. We present a case of atypical meningioma status post resection with intracranial recurrence followed by multiple radiation therapies who developed extracranial metastases 14 years after primary tumor resection.

Perivascular epithelioid cell tumors (PEComas) of the uterus are rare mesenchymal neoplasms characterized by myogenic and melanocytic differentiation. These tumors can mimic other uterine mesenchymal tumors in their clinical presentation and morphology. We report a case of a 58-year-old woman who presented with abnormal uterine bleeding. Initial imaging revealed an endometrial polyp, which was later diagnosed as a leiomyoma on excision biopsy. A subsequent hysterectomy with bilateral salpingectomy revealed a uterine neoplasm composed of spindled to epithelioid cells with low-grade cytologic atypia, infiltrative edges, and extensive lymphovascular invasions, initially suggestive of low-grade endometrial stromal sarcoma. However, immunohistochemical stains demonstrated tumor positivity for HMB45, desmin, and Cathepsin K, and genetic testing revealed a TSC1 variant, leading to a definite diagnosis of uterine PEComa with lymphangioleiomyomatosis (LAM)-like features. The patient's postoperative course was uneventful, and follow-up imaging showed no evidence of metastatic disease. This case highlights the importance of integrated morphological, immunohistochemical, and molecular assessment in differentiating uterine mesenchymal neoplasms to guide appropriate clinical management.

Introduction: Metastatic melanoma to the breast is rare and may be misdiagnosed as primary breast carcinoma. Histological, immunohistochemical, and clinical correlations, such as a history of previous melanoma, are essential for diagnosis.

Patient presentation: A female patient presented with melanoma in the left gluteal region. Five years later, a palpable nodule was detected in the right breast on routine mammography. Microscopic and immunohistochemical examination confirmed the diagnosis of metastatic melanoma. The patient passed away 3 years later.

Conclusion: The findings in this case indicate that metastatic melanoma can present in atypical ways and that specialists should pay attention to metastases in unusual locations in cases of melanoma.