Rare presentation of mucinous ovarian cancer with aggressive features and unusual metastatic pattern.

Hybrid capture-based next-generation DNA sequencing assays can provide diagnostic clarity in patients with unusual patterns of metastasis and recurrence in which the pathologic diagnosis is ambiguous.To our knowledge, this is the first reported case of a YWHAZ-BRAF fusion in pancreaticobiliary cancer, and a very rare case of cholangiocarcinoma in the setting of a germline BRCA1 mutation.The patient's BRCA1 mutation and YWHAZ-BRAF fusion constitute potential targets for future therapy.

This article reviews unusual distant metastatic patterns of infiltrating lobular carcinoma (ILC) of the breast. ILC of the breast tends to spread to the gastrointestinal tract, genitourinary tract, peritoneum, retroperitoneum, and leptomeninges in addition to common visceral sites such as the liver, bone, and lung. Knowledge of these unusual metastatic manifestations and disease patterns may aid in differentiating distant metastatic disease from secondary primary cancers and help plan appropriate therapy.

Extremity soft tissue sarcoma (STS) metastasizes preferentially to the lungs via the hematogenous route. Metastases in extrapulmonary sites such as bone, brain, and subcutaneous tissues are observed less frequently. To the authors' knowledge, limb STS primarily metastasizing to the retroperitoneum has not been described to date. The current study reviews the clinical course, management, and patient prognosis in such a pattern of metastasis. Records of patients with retroperitoneal metastases originating from an extremity STS between 1994-1998 were reviewed. Patient demographics, primary tumor site, other tumor sites, local recurrence, distant metastasis, treatment, and survival were analyzed. Ten patients were included in the study. All had primary STS of different histologic types and high histologic grade confined to a lower limb. The retroperitoneal metastases were diagnosed between 6-120 months (mean, 45 months) after diagnosis of the primary sarcoma. At that time, one patient had evidence of local recurrence of the primary tumor site, two patients had lung metastases, and one patient had diffuse bone metastases. Eight patients were eligible for surgery. In six of these patients the metastases were excised completely. The median follow up was 12 months. Of the six patients who underwent complete resection, 3 were alive at last follow-up with no evidence of disease after 12 months, 14 months, and 24 months, respectively. Two patients with recurrent retroperitoneal disease and one patient with retroperitoneal and lung metastases died despite systemic chemotherapy. Extremity STS can metastasize hematogenously to the retroperitoneum, a fact that mandates a high index of suspicion and abdominal imaging studies during the follow-up of such patients. Retroperitoneal metastases necessitate aggressive surgical resection to enable prolongation of survival.

Isolated muscle metastasis from early-stage endometrial carcinoma six years after diagnosis: A case report and literature review.

Approximately 5% to 10% of patients will harbor distant metastasis at the time of breast cancer diagnosis, with about a third of these patients developing distant recurrence after optimal therapy. Breast cancer has an unusual metastatic pattern to the colon and rectum with incidence that may be underappreciated. Lobular breast cancer has a higher preponderance to this unusual metastatic pattern. Clinical manifestation is nonspecific with a long latency period, and diagnosis requires a high index of suspicion. The management is not clearly defined. However, medical management with chemo and hormonal therapy seem to be favored, likely because of overall metastatic burden at time of diagnosis. Radical colonic resection in selected patients with isolated colorectal metastasis has been well tolerated and may influence survival. A regimented screening colonoscopy in breast cancer patients with high-risk features may offer early diagnosis and management.

A 25-year-old patient with osteosarcoma of the right distal femur underwent a bone scintigraphy with Tc-99m methylene diphosphonate (MDP). Whole-body bone scan revealed extensive metastatic disease in the abdominal region. Abdominal computerized tomography confirmed the presence of ascites and calcified masses on the greater omentum and peritoneal surfaces. Here we describe a case of unusual metastatic pattern of an osteosarcoma showing extensive intraabdominal metastases without prominent lung involvement after intensive chemotherapy.

EML4-ALK-positive lung adenocarcinoma presenting an unusual metastatic pattern in a 29-year-old woman who is alive and well in her third year follow up:A case report

Unusual metastatic pattern of endometrial carcinoma with distal foot involvement

Background: Non-small cell adenocarcinoma is a frequent tumour entity with a high mortality. Insight into molecular mechanisms has led to the development of promising therapeutic options, which improve the prognosis of affected patients. There are only a few reports on molecular tumour subtypes and clinical presentation of the disease. We present the case of a patient with anaplastic lymphoma kinase (ALK)-positive adenocarcinoma of the lung with an unusual metastatic pattern. Conclusion: The metastatic pattern of non-small cell lung cancer with ALK translocation may be different from other lung cancers. An uncommon clinical presentation may sensitize treating physicians to perform corresponding molecular testing in order to offer the best treatment options.

Invasive lobular carcinoma (ILC) is the second most common subtype of invasive breast cancer and sometimes presents with an unusual metastatic pattern. Its gastric metastasis is difficult to differentiate from primary adenocarcinoma. This report presents a case of breast ILC for which the initial presentation was gastric metastasis. A 62-y-old woman presented with gastric outlet obstruction secondary to a gastric mass that had been diagnosed on upper gastrointestinal endoscopy and biopsy. The patient had been referred for 18F-FDG PET/CT for staging. The baseline 18F-FDG PET/CT scan demonstrated extensive axillary nodal and gastric metastases with a breast mass, which raised suspicion of a primary breast carcinoma. Distinguishing primary gastric adenocarcinoma from metastatic breast ILC is essential, considering that the 2 diagnoses lead to divergent treatments. Therefore, this entity needs to be considered in the differential diagnosis in clinical practice.

Low-grade endometrial stromal sarcoma (LG-ESS) is a rare, indolent subtype of uterine malignancy, typically manifesting in women aged 40–55 years. Despite a generally favorable prognosis, there is a significant risk of late recurrence, often presenting with atypical uterine bleeding (AUB) and pelvic pain. This case report describes a 31-year-old Iranian woman, initially presenting with AUB and treated for presumed benign conditions, who was later diagnosed with LG-ESS following surgical intervention. A year postdiagnosis, the patient experienced recurrence with extensive intravascular and intracardiac tumor thrombosis involving the inferior vena cava and cardiac chambers, a rare and challenging complication. Surgical options were deemed too risky due to the tumor’s extent; thus, palliative chemotherapy was initiated. The treatment included doxorubicin and ifosfamide, supported by mesna and pegfilgrastim, and enoxaparin for thrombosis management. Follow-up imaging showed partial regression of the tumor mass. This case underscores the diagnostic challenges and management complexities associated with recurrent LG-ESS, especially with unusual metastatic patterns, emphasizing the need for vigilant long-term follow-up and a personalized multidisciplinary approach to treatment.

The FIGO scheme is currently applied for tumor grading of endometrioid adenocarcinoma. The current report presents a series of ten cases of endometrioid carcinomas that when applying the FIGO grading does not fully convey the true biological nature of the disease. The squamous component of these tumors is malignant; it constitutes the predominant invasive component, and it often metastasizes to unconventional sites. Half of the cohort developed distant disease recurrence within 2 years, even those with early-stage disease. Somatic mutations were analyzed, targeting 101 genes in all ten cases, and mutations in PTEN, MMR, PIK3CA, ATM, RB1, and TP53 genes were detected, often multiple mutations in the same case. None of the cases revealed unique molecular signatures or previously unreported gene mutations. Immunohistochemical staining for beta-catenin showed aberrant nuclear staining in eight of ten cases and remaining two showed cytoplasmic and membranous staining. Aggressive behavior and unusual sites of metastases are observed in this series even in low-grade tumor. The FIGO grading on smaller samples may be deceptive for these cases. Even if FIGO is applied, the pathology report should emphasize the malignant squamous component and its potential significance so that the gynecologic oncology team can formulate appropriate adjuvant treatment upfront. This case series argues that this histology should be regarded as a high-grade endometrioid carcinoma and can show unusual metastatic patterns. Further research is needed with more cases within this histologic subtype to guide recommendations on adjuvant therapies for this aggressive tumor type.

Multiorgan metastatic invasive lobular Carcinoma initially presenting as diplopia.

Cancer of unknown primary (CUP) defines a heterogeneous group of metastatic tumors that lack an identifiable primary tumor, despite a standardized diagnostic work‐up (Fizazi et al, 2015). CUPs are characterized by an aggressive clinical course, unusual metastatic pattern, and poor prognosis. Research in this field has been encouraged to unravel the complexity of this enigmatic entity and improve clinical management and survival of CUP patients. In this issue of EMBO Molecular Medicine, Benvenuti et al (2020) describe the molecular characterization of multiple synchronous and spatially distinct metastases from a CUP patient, shedding light on the evolutionary dynamic and distinctive features of CUP.

Introduction and importance:The most prevalent malignant bone tumor that typically impacts young adults is osteosarcoma. Synchronous multifocal osteosarcoma (SMOS) with metastasis is extremely rare, defined by the occurrence of various bone lesions being presented at the time of diagnosis. This report describes a rare case of SMOS with adrenal involvement and a simultaneous abdominal aortic aneurysm (AAA).Case presentation:We report a case of a 34-year-old Palestinian male with a history of hypertension and gout who presented with lower back and right leg pain. Imaging studies showed multiple lytic lesions in the lumbar spine, pelvis, and femur, confirming the presence of a metastatic disease. A whole-body CT scan revealed an adrenal mass and an AAA. A core needle biopsy confirmed the diagnosis of high-grade SMOS with metastasis.Clinical discussion:Osteosarcoma is the primary cancerous bone tumor that frequently impacts teenagers and young adults. Although multifocal osteosarcoma is rare, it is characterized by its aggressive nature and its possibility to metastasize. SMOS, which is a less common type, makes up only 0.6% of cases. Metastatic SMOS commonly impacts bones, including the pelvis, spine, and femur. While it is typical for cancer to spread to places like the lungs, the rare occurrence of metastasis to organs like the adrenal glands makes diagnosis and treatment more challenging.Conclusion:This case highlights the challenges in diagnosing and managing SMOS with unusual metastatic patterns and significant comorbidities. It emphasizes the importance of using interdisciplinary, comprehensive methods to optimize patient outcomes in such clinical scenarios.