Human Pathology: Case Reports最新文献

Background

Primary splenic lymphoma (PSL) is rare anatomical subtype of non-Hodgkin lymphoma which primarily originated from and limited to the spleen without other sites invasion, with a 6 months interval before lymphoma appearance in other locations.

Case presentation

In the present report we described a case of a female patient aged 59 years old with pathologically confirmed PSL.

The patient was with a left upper quadrant abdominal pain since 3 month. Radiological evaluation revealed diffuse splenomegaly. The patient underwent splenectomy and the histopathological examination of the spleen revealed high-grade non-Hodgkin B-cell lymphoma.

Conclusions

It is important to put in consideration that PSL although a rare, but must be considered as a differential diagnosis, in a patient with splenomegaly and abdominal pain in absence of specific clinical findings.

Background

SMARCA4-deficient thoracic sarcoma (SDTS) is a recently described high grade malignancy which occurs exclusively in the thoracic cavity. Extra-thoracic involvement has been rarely described.

Case presentation

We describe here a unique case of SMARCA4-deficient undifferentiated sarcomatoid tumor (SDUST) arising primarily in the gastroesophageal junction of a 40-year-old female who is a never smoker. Histologically, the lesion showed a composite tumor composed of an undifferentiated round cell tumor and a well-differentiated spindle cell tumor, which was initially interpreted as a poorly differentiated neuroendocrine carcinoma (NEC) combined with a gastrointestinal stromal tumor (GIST) respectively. However, a comprehensive reevaluation of the submitted slides demonstrated an undifferentiated sarcomatoid tumor with striking rhabdoid morphology combined with a benign leiomyoma. Immunohistochemically, the undifferentiated sarcomatoid tumor showed a complete loss of SMARCA4 and SMARCA2, negativity for claudin-4, overexpression of SOX2, strong and diffuse expression of CD34, consistent with the phenotype of SDUST. By next-generation sequencing (NGS) analysis, tumor cells harbored TP53 gene mutation.

Conclusion

This case demonstrates that SDUST may also develop in the gastrointestinal tract. Recognizing this distinct entity is important for both prognostic and therapeutic considerations.

A middle-aged woman with unrepaired congenital heart disease died suddenly from asphyxia due to hemoptysis. Postmortem computed tomography, autopsy, and histological examinations revealed the presence of an aneurysm and dissection of the right main pulmonary artery with intraluminal thrombus. The observed congenital heart diseases included patent ductus arteriosus, ventricular septal defect, and right-sided aorta. These anomalies predisposed her to left to right shunt, resulting not only in pulmonary artery hypertension and right ventricular hypertrophy, but also pulmonary artery aneurysm and dissection. Histological examinations confirmed the presence of medial degeneration and elastic fiber disruption, as well as muscular hyperplasia of the vasa vasorum and follicular infiltration of the lymphocytes and plasma cells in the main pulmonary artery. These changes may have contributed to the pathogenesis of the aneurysm and dissection through the induction of arterial wall fragility. Histology demonstrated, in addition to findings of pulmonary hypertension, such as plexiform lesions, medial-intimal hyperplasia, and veno-occlusive lesion, unique findings related to multiple dissections of the intra-pulmonary elastic arteries, which may have caused the lethal hemoptysis.

Background

Gastrointestinal stromal tumors are the most common mesenchymal tumors of the stomach and small bowel. Their myriad morphology sometimes renders the diagnosis very challenging.

Case presentation

The 57 years old man was admitted to hospital for a gastric mass found in a routine physical examination. Gastroscopy examination showed scattered mucosa congestion and edema, there were no ulcer or mass. Computed tomography scan uncovered a round shadow in the right upper abdominal cavity, closely related to the gastric antrum. The patient underwent tumor resection and partial gastrectomy. On gross examination of the specimen the tumor was 7 cm × 5 cm × 5 cm and the cut surface was greyish white with multifocal small cysts. Microscopically, there are two sharply separated morphologic pattern. One side was hypocellular with short spindle cell randomly distributed in sclerosing stroma in which are some branched staghorn-like vessels, mimicking solitary fibrous tumor. The other side was cellular with loose bundle-like growth of spindle cells in fibromyxoid stroma with lymphocytes infiltration, mimicking inflammatory myofibroblastic tumor. The number of mitosis was less than 5 per 5 mm² field. There was no necrosis. Immunophenotypically, the spindle cells were focally CD117 weakly positive and Dog1 positive. They were negative for S100, MDM2, ALK, CK-pan, CD34, CDK4, STAT6, SMA, desmin. SDHB expression was intact. Gene sequencing revealed PDGFRA exon 18 mutation (D842V). The final diagnosis was gastrointestinal stromal tumor, low risk. The patient was followed up with 10 months after operation, no recurrence or metastasis was found.

Conclusion

We present an unusual case of gastrointestinal stromal tumor harboring PDGFRA p.D842 mutation with unusual morphology. Our case expanded the morphological spectrum of those tumors, recognizing this rare morphological variation of the tumor would avoid misdiagnosis and inappropriate treatment.

Microcystic stromal tumor (MST) of the ovary is a rare, recently established disease entity. Histologically, MST is characterized by intercellular microcysts and solid proliferation of stromal tumor cells with eosinophilic cytoplasm and bland nuclei separated by hyalinized fibrous bands. We report a case of an ovarian tumor that we believe fulfills the histologic and immunophenotypic characteristics of MST in a woman with familial adenomatous polyposis. Peculiar histologic findings in our case included additional features such as extensive intracytoplasmic vacuoles—signet ring cell features—with occasional psammomatous calcification. Although the presence of the signet ring cell features has been reported in other ovarian stromal tumors, we believe our case should be classified as MST due to the histologic and immunohistochemical findings along with the genetic background of the patient. Histological descriptions of MSTs with signet ring cell features with or without calcification have been reported, albeit briefly, in several articles and gynecology textbooks, but are not commonly the focus of much attention. This report might broaden the description of the morphologic spectrum of MST to include signet ring cell-rich features with or without calcification as morphologic characteristics of MST.

We experienced a 70-year-old female with brain and liver tumors. She underwent surgical operations for rectal cancer 8 year ago and lung cancer 16 years ago. Surgical removal of a brain tumor and a liver biopsy were performed. The brain tumor consisted of an adenocarcinoma with a solid signet-ring cell pattern. Under the possibility of metastatic anaplastic lymphoma kinase (ALK)-rearranged lung cancer in the brain and liver, immunohistochemistries (IHCs) for ALK were performed, returning positive results. Thus, metastasis of ALK-rearranged lung adenocarcinoma in the brain and liver had been confirmed. The patient was administered alectinib, which was well tolerated and has been in partial response for about one year and a half. By the genetic analyses for EML4-ALK variants, both the previous lung cancer and metastatic brain tumor were shown to harbor the same EML4-ALK variant 3 fusion. We thus concluded that ALK-rearranged lung adenocarcinoma has recurred as liver and brain metastases 16 years after curative surgery.

Introduction

Synovial hemangiomas are a rare benign vascular malformation that most commonly affects the knee joint, usually involving the anterior compartment. Histopathology examination is considered the gold standard for the diagnosis of synovial hemangioma. Surgical excision, either done per arthroscopy or per arthrotomy, is the treatment of choice.

Presentation of case

This study presents a 29-year-old female admitted to our hospital in March 2020 who complained of continuous pain, swelling, and recurrent haemarthroses without a history of trauma for six months. The anteroposterior and lateral plain radiographs of the left knee showed no abnormality. An ultrasound of the left knee showed lobulated hypoechoic lesions in intra-articular and infra-suprapatellar pouches. Multiple vessels within the lesion with the low-velocity venous flow have appeared in color-Doppler imaging. Magnetic resonance imaging (MRI) of the left knee showed an irregular soft tissue mass in intra-articular fossa that infiltrating infra-suprapatellar pouches along to vastus medialis muscle (juxta-articular areas) measuring about 87 × 72 × 75 mm. Synovial effusion and bone erosions were notable. Fine-needle aspiration cytology (FNAC) offered hemarthrosis.

The excisional biopsy obtained from the lesion and imprint cytology performed immediately after tissue removal. The cytologic diagnosis was compatible with a benign vascular neoplasm. The histologic exam confirmed synovial hemangioma.

Discussion

Synovial hemangioma is a rare benign tumor of vascular origin arising from synovium-lined tissues, and often affects adolescents and young adults. Synovial hemangioma is often associated with an adjacent cutaneous or deep soft tissue hemangioma. It is a vascular malformation that contains variable amounts of adipose, fibrous, and muscle tissue, as well as thrombi in the vessels. At present, MRI has become the modality of choice for the evaluation of hemangiomas. The final diagnosis established with the histologic examination. The choice treatment is surgical excision.

Conclusion

Although synovial hemangioma is a rare condition, be considered for non-specific clinical symptoms. However, an early diagnosis of synovial hemangioma is fundamental for adequate treatment.

Factor V Leiden (FVL) and factor II c.*97G > A mutation are the two most common genetic factors predisposing to hereditary thrombophilia. Being extremely rare, it used to be thought that double homozygosity for both variants is inconsistent with life. Only two cases describing double-homozygous patients with venous thrombosis were reported about two decades ago. However, to the best of our knowledge, there has been no reported case of double-homozygous individuals presenting with recurrent fetal losses rather than venous thrombosis. Herein, we present the case of a 36-year-old female who presented with recurrent first trimester miscarriages without developing venous thromboembolism. Testing with allele-specific polymerase chain reaction showed double-homozygous pattern for both FVL and factor II c.*97G > A mutation, both of which were confirmed by next generation DNA sequencing. With a population prevalence of less than one per ten million individuals, double-homozygotes’ actual increase in risk for venous thromboembolism or fetal loss is unknown.

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract (GIT). Extraintestinal GIST is a tumor with identical morphology and immunohistochemical profile that occurs outside the GIT. Primary prostatic GIST is a rare entity, and the diagnosis of such a case is usually confused with rectal GIST due to the anatomical proximity of these two organs. Here, we present a case of a 62 years old male patient who presented with a pelvic mass that was diagnosed as GIST after histological examination.

Intravenous location of lobular capillary haemangioma/ pyogenic granuloma is rare with less than 50 cases reported. It is extremely unusual to get a metastatic carcinoma within an intravascular lobular capillary haemangioma (IVLCH). To our knowledge, there are no reported cases of intravenous lobular capillary haemangioma harbouring a metastatic carcinoma. Here we discuss a case of metastatic prostatic carcinoma within an IVLCH along with a review of literature of intravenous pyogenic granuloma and analysis of the possible aetiological factors for the development of lobular capillary haemangioma in our patient.