Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome

Shaukat, Zunaira; Wali, Rabia

doi:10.7759/cureus.12092

Cited by 2 publications

(3 citation statements)

References 16 publications

(24 reference statements)

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“…Adjuvant chemotherapy in the presence of locally advanced rectal cancer might not change the prognosis as there has been inconsistency in its benefits. Education and increasing the awareness of parents and health workers in primary care or pediatricians play a major role in dealing with this syndrome [ 1 , 12 , 14 - 16 ].…”

Section: Discussionmentioning

confidence: 99%

A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review

Alali¹,

Zikry²,

Zayed³

et al. 2022

Cureus

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The constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and challenging condition with a poor prognosis. It results from biallelic mismatch repair gene mutations and leads to multiorgan cancers. Therefore, we report the first case of advanced juvenile rectal cancer related to CMMRD syndrome in the Gulf region. She is a 13-year-old female, born to non-consanguineous parents with a positive family history of malignancy, presented with an eight-month history of a retractable bulging anal mass associated with diarrhea mixed with blood and constitutional symptoms. She was cachectic with café au lait spots all over her body. Upon investigation, she was found to have invasive rectal adenocarcinoma. The case was started on neoadjuvant chemoradiotherapy in addition to genetic testing which showed a homozygous pathogenic variant in PMS2, indicating CMMRD syndrome. The patient underwent pre-operative post-neoadjuvant reassessment followed by laparoscopic total proctocolectomy with ileal J-pouch creation and ileoanal anastomosis with temporary diverting loop ileostomy which later on was reversed with no complications or recurrence. The family declined to continue the adjuvant therapy but accepted the surveillance programs and genetic testing. Unusual or late presentation secondary to a very rare syndrome like CMMRD is a major challenge to clinicians, hence a high index of suspicion and proper utilization of genetics programs might be the best available solutions.

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Section: Discussionmentioning

confidence: 99%

A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review

Alali¹,

Zikry²,

Zayed³

et al. 2022

Cureus

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“…As CMMRD is still poorly recognized and under-diagnosed, it is rarely suspected at the diagnosis of the first malignancy [6,7]. There are a limited number of cases of CMMRD reported from Pakistan [8,9]. We report the case of a patient with CMMRD syndrome who developed three unusual tumors (anaplastic astrocytoma, Burkitt lymphoma, and colorectal carcinoma) and a benign bone tumor (osteochondroma).…”

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies

Naeem¹,

Ullah²,

Jhatial³

et al. 2023

Cureus

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Defective repair of DNA when heterozygous leads to Lynch syndrome (LS) which is inherited in an autosomal dominant fashion. When homozygous, defective repair of DNA leads to constitutional mismatch repair deficiency syndrome (CMMRD), inherited in an autosomal recessive fashion with a predisposition to develop a pattern of childhood malignancies including hematological and solid cancers. We report such a case of a 21-year-old male who developed anaplastic astrocytoma, Burkitt lymphoma, osteochondroma, and colon cancer successively. Each cancer was treated successfully except for colon cancer which developed liver metastasis after the initial treatment with curative intent. However, the patient has been treated for liver metastasis with curative intent and is currently on follow-up. This case report highlights the importance of maintaining a low threshold for investigating CMMRD and other potential cancer predisposition syndromes when a patient presents with multiple cancers in the early years of their life.

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Non-Hodgkin’s Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome

Cited by 2 publications

References 16 publications

A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review

A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review

Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies

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