Congenital thymoma.

Thymomas are a heterogeneous group of tumors arising from the epithelium of the thymus. They are categorized by the proportion of neoplastic epithelia to lymphocytes and by the degree of cytologic atypia. Thymomas constitute 0.2-1.5% of all malignancies and nearly all occur in patients over 20 years. We reviewed the available literature and found less than 50 cases of thymoma reported in children (<18 years of age), the youngest being 4 years old, and no cases in newborns. They represent less than 1% of all mediastinal tumors in children. Due to the limited number of cases in the pediatric population, the diagnosis and treatment in this population is extremely challenging. Thymomas in all age groups may be associated with paraneoplastic syndromes, being myasthenia gravis the most common, which is associated with a worse prognosis in the pediatric population. We present the first case of a newborn infant with congenital thymoma. This case demonstrates a rare tumor in an unusual age group and emphasizes the importance of multidisciplinary teamwork in the decision-making and management of this condition.

Practical diagnostic utility of thyroid fine-needle aspiration cell blocks: is always too much?

INTRODUCTION: Thyroid fine-needle aspiration (tFNA) is a powerful screening tool for assessing solitary thyroid nodules. Generally, morphologic evaluation of smears yields an accurate diagnosis; but, in some cases it is useful to have a cell block (CB) to conduct ancillary studies such as immunohistochemistry (IHC). Cytologic diagnoses guide clinical decisions, so it is important that accurate and efficient diagnoses be rendered. Our study evaluates the diagnostic utility of the CB in the evaluation of tFNAs. MATERIALS AND METHODS: We performed a retrospective chart review of all tFNA specimens from January 2014 to July 2019. Data collected included TAT (in days), diagnosis, if a CB was prepared, and if it was diagnostically contributory. Descriptive statistics were calculated. Data were analyzed using the χ2 test and the Mann-Whitney U-test. RESULTS: Of the 2321 specimens, 40.2% (933) had CB and only 0.3% (7) were diagnostically contributory. IHC was used for 2 cases. For cases with CB, the median TAT was one day [0-18 days] and the median TAT without CB was 0 [0-9 days]. There was a significant difference in TAT between cases with a CB and those without. Most cases without a CB had same-day TAT (66.4%), whereas only 1.1% of those with a CB had same day TAT. Cases with CB were more likely to have a TAT >1 day (65% versus 12.1%) or >3 days (25.4% versus 10%) than those without a CB (P < 0.0001). CONCLUSIONS: We found the diagnostic utility of CB for tFNAs to be very low. The addition of a CB added at least 1 day to the TAT in all diagnostic strata. The additional time causes patients to wait for results, even for nondiagnostic studies. The increased TAT, resources, and manpower use may be reduced if CB were produced only as needed-if the results of the smear were ambiguous or if ancillary tests were needed to confirm the diagnosis.

Congenital thymoma

Thymomas are a heterogeneous group of tumors arising from the epithelium of the thymus. They are categorized by the proportion of neoplastic epithelia to lymphocytes and by the degree of cytologic atypia. Thymomas constitute 0.2-1.5% of all malignancies and nearly all occur in patients over 20 years. We reviewed the available literature and found less than 50 cases of thymoma reported in children (<18 years of age), the youngest being 4 years old, and no cases in newborns. They represent less than 1% of all mediastinal tumors in children. Due to the limited number of cases in the pediatric population, the diagnosis and treatment in this population is extremely challenging. Thymomas in all age groups may be associated with paraneoplastic syndromes, being myasthenia gravis the most common, which is associated with a worse prognosis in the pediatric population. We present the first case of a newborn infant with congenital thymoma. This case demonstrates a rare tumor in an unusual age group and emphasizes the importance of multidisciplinary teamwork in the decision-making and management of this condition.

Hyalinizing clear cell carcinoma of the soft palate: a review of literature review.

Hyalinizing clear cell carcinoma (HCCC), also known as clear cell carcinoma, not otherwise specified [CCC, (NOS)], is a rare minor salivary gland tumor characterized by proliferation of clear cells, organized in trabecular cords, or solid nests within loose to densely hyalinized stroma. It is considered a diagnosis of exclusion by the World Health Organization (WHO) because other salivary tumors may also have a clear cell component. Hence, there is a wide differential diagnosis. EWSR1-ATF1 gene rearrangements are fairly specific for this tumor, however, one of the recent studies have described its presence in clear cell odontogenic carcinoma (CCOC) one of its histologic mimickers. EWSR1 and CREM fusions have recently been described in these tumors but its importance is still not well described. Here we present a case of a 33-year-old woman who presented with a recurrent lesion of the soft palate. Her initial lesion was resected and diagnosed as low-grade myoepithelial tumor. Surgical margins at the time of initial resection were positive and the re-excision was recommended but the patient did not undergo surgery. Two years later, local recurrence at the same site was found and an excision was performed yielding negative margins. Histopathologic examination revealed features consistent with hyalinizing clear cell carcinoma. The patient remains disease free 1 year after the re-excision. The pathology, clinical characteristics, differential diagnosis and treatment of hyalinizing clear cell carcinoma are reviewed.

Benign multicystic peritoneal mesothelioma: literature review and update.

Benign multicystic peritoneal mesothelioma (BMPM) is a rare peritoneal tumor diagnosed predominantly in pre-menopausal women. Associated risk factors include endometriosis and pelvic inflammatory disease in women, and prior abdominal surgery in both genders. To date, the pathogenesis of this disease remains controversial with possible etiologies, including a neoplastic versus a reactive process. Given the risk factors, some authors believe that this disease is secondary to a reactive process. However, because some studies describe cases where there is no prior surgical history or inflammatory milieu present, and because of this entity's predilection for recurrence, some authors believe the origin to be neoplastic. Some genetic and familial associations have also been reported. Malignant transformation is extremely rare, with only two cases reported in the literature, despite the recurrence potential. Like the etiology, the name of this entity is also controversial. Some authors prefer the term "peritoneal inclusion cyst (PCM)" instead of "benign cystic mesothelioma" and argue that the term mesothelioma should only be used when there is evidence of atypia. Most cases of BMPM are discovered incidentally. Others reflect sequela of tumor mass effect. It appears intra-operatively as large, multi-focal, cystic lesions in the peritoneal and pelvic cavity. Diagnosis is achieved through surgical sampling with histopathological examination. Immunobiologically, BMPM exhibits multiple small cystic spaces with flattened lining containing calretinin positive cells without atypical features, mitotic figures, or tissue invasion. Treatment includes cytoreductive surgery. Here we present a case of BMPM in a 60-year-old male - a rare disease in an uncommon patient population.

Hyalinizing clear cell carcinoma of the soft palate: a review of literature review

Hyalinizing clear cell carcinoma (HCCC), also known as clear cell carcinoma, not otherwise specified [CCC, (NOS)], is a rare minor salivary gland tumor characterized by proliferation of clear cells, organized in trabecular cords, or solid nests within loose to densely hyalinized stroma. It is considered a diagnosis of exclusion by the World Health Organization (WHO) because other salivary tumors may also have a clear cell component. Hence, there is a wide differential diagnosis. EWSR1-ATF1 gene rearrangements are fairly specific for this tumor, however, one of the recent studies have described its presence in clear cell odontogenic carcinoma (CCOC) one of its histologic mimickers. EWSR1 and CREM fusions have recently been described in these tumors but its importance is still not well described. Here we present a case of a 33-year-old woman who presented with a recurrent lesion of the soft palate. Her initial lesion was resected and diagnosed as low-grade myoepithelial tumor. Surgical margins at the time of initial resection were positive and the re-excision was recommended but the patient did not undergo surgery. Two years later, local recurrence at the same site was found and an excision was performed yielding negative margins. Histopathologic examination revealed features consistent with hyalinizing clear cell carcinoma. The patient remains disease free 1 year after the re-excision. The pathology, clinical characteristics, differential diagnosis and treatment of hyalinizing clear cell carcinoma are reviewed.

Benign multicystic peritoneal mesothelioma: literature review and update

Benign multicystic peritoneal mesothelioma (BMPM) is a rare peritoneal tumor diagnosed predominantly in pre-menopausal women. Associated risk factors include endometriosis and pelvic inflammatory disease in women, and prior abdominal surgery in both genders. To date, the pathogenesis of this disease remains controversial with possible etiologies, including a neoplastic versus a reactive process. Given the risk factors, some authors believe that this disease is secondary to a reactive process. However, because some studies describe cases where there is no prior surgical history or inflammatory milieu present, and because of this entity's predilection for recurrence, some authors believe the origin to be neoplastic. Some genetic and familial associations have also been reported. Malignant transformation is extremely rare, with only two cases reported in the literature, despite the recurrence potential. Like the etiology, the name of this entity is also controversial. Some authors prefer the term "peritoneal inclusion cyst (PCM)" instead of "benign cystic mesothelioma" and argue that the term mesothelioma should only be used when there is evidence of atypia. Most cases of BMPM are discovered incidentally. Others reflect sequela of tumor mass effect. It appears intra-operatively as large, multi-focal, cystic lesions in the peritoneal and pelvic cavity. Diagnosis is achieved through surgical sampling with histopathological examination. Immunobiologically, BMPM exhibits multiple small cystic spaces with flattened lining containing calretinin positive cells without atypical features, mitotic figures, or tissue invasion. Treatment includes cytoreductive surgery. Here we present a case of BMPM in a 60-year-old male - a rare disease in an uncommon patient population.

Factors affecting the concordance of radiologic and pathologic tumor size in breast carcinoma.

BACKGROUND: Radiologic assessment of tumor size is an integral part of the work-up for breast carcinoma. With improved radiologic equipment, surgical decision relies profoundly upon radiologic/clinical stage. We wanted to see the concordance between radiologic and pathologic tumor size to infer how accurate radiologic/clinical staging is. MATERIALS AND METHODS: The surgical pathology and ultrasonography reports of patients with breast carcinoma were reviewed. Data were collected for 406 cases. Concordance was defined as a size difference within ±2 mm. RESULTS: The difference between radiologic and pathologic tumor size was within ±2 mm in 40.4% cases. The mean radiologic size was 1.73 ± 1.06 cm. The mean pathologic size was 1.84 ± 1.24 cm. A paired t-test showed a significant mean difference between radiologic and pathologic measurements (0.12 ± 1.03 cm, p = 0.03). Despite the size difference, stage classification was the same in 59.9% of cases. Radiologic size overestimated stage in 14.5% of cases and underestimated stage in 25.6% of cases. The concordance rate was significantly higher for tumors ≤2 cm (pT1) (51.1%) as compared to those greater than 2 cm (≥pT2) (19.7%) (p < 0.0001). Significantly more lumpectomy specimens (47.5%) had concordance when compared to mastectomy specimens (29.8%) (p < 0.0001). Invasive ductal carcinoma had better concordance compared to other tumors (p = 0.02). CONCLUSION: Mean pathologic tumor size was significantly different from mean radiologic tumor size. Concordance was in just over 40% of cases and the stage classification was the same in about 60% of cases only. Therefore, surgical decision of lumpectomy versus mastectomy based on radiologic tumor size may not always be accurate.

Role of "Second Look" Lymph Node Search in Harvesting Optimal Number of Lymph Nodes for Staging of Colorectal Carcinoma.

As with other malignancies, lymph node metastasis is an important staging element and prognostic factor in colorectal carcinomas. The number of involved lymph nodes is directly related to decreased 5-year overall survival for all pT stages according to United States Surveillance, Epidemiology, and End Results (SEER) cancer registry database. The National Quality Forum specifies that the presence of at least 12 lymph nodes in a surgical resection is one of the key quality measures for the evaluation of colorectal cancer. Therefore, the harvesting of a minimum of twelve lymph nodes is the most widely accepted standard for evaluating colorectal cancer. Since this is an accepted quality standard, a second attempt at lymph node dissection in the gross specimen is often performed when the initial lymph node count is less than 12, incurring a delay in reporting and additional expense. However, this is an arbitrary number and not based on any hard scientific evidence. We decided to investigate whether the additional effort and expense of submitting additional lymph nodes had any effect on pathologic lymph node staging (pN). We identified a total of 99 colectomies for colorectal cancer in which the prosector subsequently submitted additional lymph nodes following initial review. The mean lymph node count increased from 8.3 ± 7.5 on initial search to 14.6 ± 8.0 following submission of additional sections. The number of cases meeting the target of 12 lymph nodes increased from 14 to 69. Examination of the additional lymph nodes resulted in pathologic upstaging (pN) of five cases. Gross reexamination and submission of additional lymph nodes may provide more accurate staging in a limited number of cases. Whether exhaustive submission of mesenteric fat or fat-clearing methods is justified will need to be further investigated.

Tumor Size in Breast Carcinoma: Gross Measurement Is Important!

INTRODUCTION: The staging of breast carcinoma is mainly dependent on tumor size and lymph node status. Small increments in tumor size upstage the patient. An accurate determination of the tumor size is therefore critically important. Although the final staging is based on microscopic size, pathologists rely on gross measurements in a considerable number of cases. METHODS: We investigated the concordance between gross and microscopic measurements of breast carcinoma as well as factors affecting this concordance. This study is a retrospective review of surgical pathology reports of invasive breast carcinomas. Data were collected for 411 cases. Concordance was defined as a size difference within ±2 mm. RESULTS: Gross and microscopic sizes were identical in 33.1% of cases. Gross and microscopic size difference was within ±2 mm in 56% of cases. Despite the size difference, stage classification ended up being the same in 68.6% of cases. Tumor stage was over estimated by gross measurement in 17.0% of cases and underestimated in 14.4% of cases. The concordance was significantly higher for those tumors in which final pathologic tumor (pT) size was greater than 2 cm (≥pT2) as compared with those less than or equal to 2 cm (≤pT1; P < .0001). A higher proportion of mastectomy specimens (61.4%) were concordant as compared with lumpectomy specimens (52.1%). CONCLUSION: Gross and microscopic tumor sizes were concordant in 56% of cases. Stage classification based on gross and microscopic tumor size was different in nearly one third (31.4%) of cases. Gross tumor size is critically important in accurate staging at least in cases where tumor size cannot be confirmed microscopically.

Utility of Additional Tissue Sections in Surgical Pathology.

BACKGROUND: To avoid diagnostic errors such as missed diagnosis and errors in staging tumors due to inadequate tissue sampling, pathologists submit additional sections (AS). OBJECTIVE: This study assessed frequency, diagnostic yield, distribution, and cost of AS. METHOD: Among 1542 AS cases, we calculated mean AS per case; fraction of AS that altered diagnosis or stage; AS variation by tissue, malignant versus benign lesions, presence or absence of neoadjuvant therapy, mass, margin, lymph nodes, or other source, resident versus pathologist assistant (PA) dissector; and AS cost per case. RESULTS: Overall 9.2 ± 8.8 AS were collected per case. In only 3.8% (58/1542) of cases AS altered diagnosis or stage. Urinary bladder cases provoked the most AS: 19.5 ± 15.1 per case. Significantly more AS came from malignant versus benign lesions (10.8 ± 9.7 vs 7.6 ± 7.5, P = <.0001) and from specimens treated with neoadjuvant therapy versus malignant lesions not so treated (12.3 ± 9.4 vs 10.3 ± 9.8, P = .02). Lymph nodes were sampled more heavily compared with mass, margin, and other sites combined (11.8 ± 11.4 vs 8.9 ± 8.4, P = .003), but in 78.4% (1209/1542) of cases, AS were from mass. Of diagnosis or stage altering AS cases, two thirds (38/58) were from masses, one fifth (11/58) from lymph nodes, a 10th (6/58) from margins, and a 20th (3/58) from other specimen sites. Resident versus pathologist assistant dissection caused no significant AS difference. AS contributed 40% cost per case. CONCLUSIONS: AS per case ranged widely; their diagnostic yield was low; they were highest in urinary bladder specimens, in malignant and particularly neoadjuvant-treated lesions. Although lymph nodes were most heavily sampled, most AS were from masses. Resident dissection did not increase AS and cost of AS was high.

Cisplatin-Induced Nephrotoxicity and HIV Associated Nephropathy: Mimickers of Myeloma-Like Cast Nephropathy.

Myeloma cast nephropathy is an obstructing disorder of renal tubules, caused by precipitation of Bence Jones proteins. Myeloma-like cast nephropathy (MLCN) has been reported in the literature to occur in various primary renal and nonrenal diseases. We present a series of three rare cases of cast nephropathy, two of which are HIV patients, and the third patient is receiving cisplatin-based chemotherapy. However, in all three patients plasma cell dyscrasia has been ruled out. A 30-year-old male was admitted to the hospital with facial cellulitis. The second patient is a 31-year-old male who presented with Pneumocystis jiroveci pneumonia. The third patient was treated with cisplatin-based chemotherapy for carcinoma. First two cases revealed foci of diffuse tubular dilatation containing hyaline casts and interstitial inflammatory infiltrate, in addition to globally sclerotic glomeruli with ultrastructural foot process fusion and mesangium expansion. The third case showed acute tubular injury and cast formation of irregular casts composed of amorphous or granular material of low density admixed with scattered high electron-dense globules. Myeloma-like cast nephropathy and true myeloma cast nephropathy pose similar destructive effects on renal parenchyma. This new pattern of HIV-related nephropathy should be considered in HIV patients with MLCN, once monoclonal gammopathy is ruled out.

A second reported malignancy in a patient with Morquio syndrome.

Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.

Benign Multicystic Peritoneal Mesothelioma: A Rare Condition in an Uncommon Gender.

Benign Multicystic Peritoneal Mesothelioma (BMPM) is a rare condition that arises from the abdominal peritoneum. Fewer than 200 cases have been reported worldwide. BMPM usually affects premenopausal women and is extremely rare in men. Many factors are suspected to contribute to its development, such as previous surgery, endometriosis, and familial Mediterranean fever. The main management is surgical resection; however, it is estimated that the recurrence rate is up to 50%. Malignant transformation is rare. We report a case series of three male patients who were diagnosed with BMPM and were treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC).

A second reported malignancy in a patient with Morquio syndrome

Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.